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Sample records for congenital vertebral malformations

  1. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.)

  2. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  3. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  4. METHODS TO DIAGNOSE CONGENITAL MALFORMATIONS IN NEWBORNS

    OpenAIRE

    Daniela Iacob; RE Iacob; Marioara Boia; C Ilie; Aniko Manea

    2009-01-01

    Congenital malformations, congenital anomalies and innate defects (present at birth) are synonymous terms used to describe structural, functional or metabolic disorders present at birth. The science that studies the causes of these disorders is called teratology (Greek teratos = monster). As genetic and malformative disorders are very diverse, appear at different ages and affect any system or organ, the patients who suffer of these diseases can be examined by a specialist doctor, all the medi...

  5. Congenital pancreas malformations: a clinical case report

    OpenAIRE

    Bento, A.; Baptista, H; Oliveira, FJ

    2013-01-01

    OBJECTIVE: This study aimed to review the congenital malformation known as agenesis of the dorsal pancreas (ADP) and other pancreatic birth defects, based on a rare and exemplary clinical case of pancreatic malformations. The intent was to review the latest information published in the national and international literature on pancreatic birth defects, and to investigate the diversity of clinical presentations of ADP and other congenital pancreas abnormalities. The purpose was to identify w...

  6. Complex Vertebral Malformation (CVM) in an Italian Holstein calf

    International Nuclear Information System (INIS)

    Complex Vertebral Malformation, a congenital and lethal genetic defect of Holstein breed, has been recently observed in different Countries all over the world. In this paper the AA describe the clinical and radiological aspects of CVM in a two day old female calf. The disease was characterized by low body weight, symmetrical arthrogryposis and partial rotation of all legs and scoliosis. Calf was alert and showed physiological appetite, but was not able to maintain the quadrupedal stance. Radiographs of the vertebral column showed multiple vertebral anomalies, including hemivertebrae, fused and misshapen vertebrae and ribs and scoliosis, that affected mainly the caudal, cervical and thoracic regions. At necropsy, besides the skeleton anomalies, complex malformation of the heart was observed, which included atrial and interventricular defects and patent ductus arteriosus. This is the first case of CVM completely documented and genetically tested in Italy

  7. Rare Lung Diseases: Congenital Malformations.

    Science.gov (United States)

    Bush, Andrew

    2015-09-01

    Increasingly, congenital thoracic malformations (CTMs) are diagnosed on antenatal ultrasound, but we lack the evidence to suggest rational management, not least because descriptive terms are used inconsistently. This review describes a simplified clinical classification of CTMs, and contrasts it with pathological descriptions. The age related presentations of CTM are described, together with the differential diagnoses of cystic masses presenting both antenatally and postnatally. Antenatally diagnosed CTMs rarely require intervention before birth; and urgent treatment is only required postnatally if the baby is symptomatic and does not respond to medical management. The asymptomatic baby with an antenatal diagnosis of a CTM presents a management conundrum. Definitive imaging is with high-resolution computed tomography (HRCT), but the optimal timing of imaging is unclear. Whether surgery should be offered to asymptomatic infants is also unclear; in the medium term, 5 % of asymptomatic babies will require surgery for complications of the disease. The most vexed question is malignant change; the risk in the medium term is probably less than 5 %, but we have no way of delineating a high-risk group. Indeed, malignancy has been described even after complete resection of a CTM. The author's personal management is to advocate surgery in the second year of life for all except for the most trivial CTMs, but many would differ and advocate conservative management. More data are needed if we are to rationalise our approach to these infants. PMID:26096865

  8. Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

    Energy Technology Data Exchange (ETDEWEB)

    Breitling, Magnus; Rabin, Michael [University of Saskatchewan, Department of Medical Imaging, Saskatoon, Saskatchewan (Canada); Lemire, Edmond G. [University of Saskatchewan, Division of Medical Genetics, Department of Pediatrics, Saskatoon (Canada)

    2006-08-15

    Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. Differentiating SSS from other congenital scoliosis syndromes requires evaluation of the vertebrae, ribs, soft tissues, and spinal cord. The enhanced resolution over plain radiographs seen with MRI allows more detailed assessment of vertebral malformation and surrounding anatomy. Diagnosis of the underlying cause of congenital scoliosis might be enhanced using this technology. We report on a 12-year-old girl of unaffected parents with SSS who was evaluated with MRI sequences of the spine to show various types of malsegmentation. Additionally, there is the new finding of fusion of teeth, with developmental failure of a canine incisor. (orig.)

  9. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

    Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

  10. Congenital malformations in newborns of alcoholic mothers

    Directory of Open Access Journals (Sweden)

    Maria dos Anjos Mesquita

    2010-12-01

    Full Text Available Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births, 6 with congenital defects related to alcohol (3.0/1,000 live births, and 67 with developmental disorders related to alcohol (34.1/1,000 live births. The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. Conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.

  11. FULL SCIENTIFIC REPORTS - Complex vertebral malformation in Holstein calves.

    DEFF Research Database (Denmark)

    Agerholm, JØrgen S.; Bendixen, Christian

    2001-01-01

    A recently observed lethal congenital defect of purebred Holstein calves is reported. Eighteen genetically related calves were necropsied. One calf had been aborted on gestation day 159, and the others were delivered between day 250 and day 285. Birth weights were reduced. The defect was characterized by shortening of the cervical and thoracic parts of the vertebral column due to multiple hemivertebrae, fused and misshaped vertebrae, and scoliosis. Symmetrical flexures of the carpal joints and the metacarpophalangeal joint in combination with a slight lateral rotation of the phalanges also were present. Similar low-grade arthrogryposis was present in the posterior limbs. Fifty percent of the calves had heart malformation. Other malformations occurred in a few calves. Complex vertebral malformation (CVM) is proposed as the designation for this defect. A genetic etiology is indicated because cases occurred following breeding between genetically related individuals. Two common ancestors were found; both were former elite sires of US Holstein origin. Because of the widespread international use of semen from sires occurring in the pedigrees of affected calves, CVM is expected to occur in several countries.

  12. Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformation.

    OpenAIRE

    Yaw-Ren Hsu; Shin-Yi Lee

    2004-01-01

    Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare pulmonarylesion. The prognosis is variable ranging from perinatal death to spontaneous in uteroregression, with no neonatal morbidity. We present a case of CCAM diagnosed at 23 weeks'gestation using results of prenatal sonograms. Both prenatal Two-Dimensional and Three-Dimensional sonograms revealed multiple cystic lesions at the right lower lung field.Regular serial antenatal sonograms revealed the fetus had persistent r...

  13. Congenital cystic adenomatoid lung malformation of newborn

    International Nuclear Information System (INIS)

    The congenital cystic adenomatoid malformation (CCAM) of the newborn is a particular form among the cystic disorders of the lung. The clinical findings, illustrated by four cases, and especially the roentgenographic symptoms are typical. Different radiologic examinations, including the computertomography, are discussed. The differential diagnosis of the disease is various, and therefore a correct and on time diagnosis is necessary, because the prognosis of the patient depends on an adequate therapy. (orig.)

  14. Infertility, infertility treatment, and congenital malformations

    DEFF Research Database (Denmark)

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    OBJECTIVES: To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. DESIGN: Longitudinal study. SETTING: Danish national birth cohort. PARTICIPANTS: Three groups of liveborn children and their mothers: 50,897 singletons and 1366 twins born of fertile couples (time to pregnancy < or = 12 months), 5764 singletons and 100 twins born of infertile couples...

  15. Congenital spinal malformations; Kongenitale spinale Malformationen

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2001-12-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

  16. Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformation.

    Directory of Open Access Journals (Sweden)

    Yaw-Ren Hsu

    2004-01-01

    Full Text Available Congenital cystic adenomatoid malformation (CCAM of the lung is a rare pulmonarylesion. The prognosis is variable ranging from perinatal death to spontaneous in uteroregression, with no neonatal morbidity. We present a case of CCAM diagnosed at 23 weeks'gestation using results of prenatal sonograms. Both prenatal Two-Dimensional and Three-Dimensional sonograms revealed multiple cystic lesions at the right lower lung field.Regular serial antenatal sonograms revealed the fetus had persistent right lower lung multicystlesions but had no hydrops fetalis or associated congenital anomalies. The results of theantenatal 50 g glucose diabetic screen at 24 weeks' gestation were normal. A live male babywas vaginally delivered smoothly at 40 weeks' gestation. Body weight was 4170 g. Apgarscores were 7 at 1 minute and 8 at 5 minutes. The newborn had no signs of respiratory distressat birth. Postnatal chest computed tomography (CT also revealed multiple fluid-filledcysts in the right lower lobe compatible with congenital cystic adenomatoid malformation.Because of the potential risk of perinatal death, repeated lung infection and malignantchange of CCAM, the newborn received right lower lung lobectomy 1 week after delivery.Pathology confirmed the diagnosis of CCAM type II. The recovery was smooth postoperativelyand the baby still receives regular follow-up. We emphasize the importance of prenataldiagnosis of CCAM and early removal of the congenital cystic lesions of the lung toachieve a good outcome.

  17. Malformações pulmonares congênitas / Congenital lung malformations

    Scientific Electronic Library Online (English)

    Cristiano Feijó, Andrade; Hylas Paiva da Costa, Ferreira; Gilberto Bueno, Fischer.

    2011-04-01

    Full Text Available As malformações congênitas do pulmão são raras e variam muito na sua forma de apresentação clínica e gravidade, dependendo principalmente do grau de envolvimento pulmonar e de sua localização na cavidade torácica. Elas podem se manifestar em qualquer idade e podem ser fonte de importante morbidade e [...] mortalidade em lactentes e crianças. Os indivíduos com malformações congênitas do pulmão podem apresentar sintomas respiratórios ao nascimento, enquanto outros podem permanecer assintomáticos por longos períodos. Atualmente, com o uso rotineiro da ultrassonografia pré-natal, vem ocorrendo um aumento no diagnóstico mais precoce dessas malformações. A manifestação clínica dessas malformações varia desde uma disfunção respiratória pós-natal imediata a um achado acidental na radiografia de tórax. O diagnóstico precoce e o tratamento imediato oferecem a possibilidade de um desenvolvimento pulmonar absolutamente normal. Quando assintomáticos, a conduta para o tratamento dos pacientes com malformações pulmonares ainda é controversa, uma vez que o prognóstico dessas afecções é imprevisível. O manejo dessas lesões depende do tipo de malformação e de sintomas. Devido ao risco de complicação, a maioria dos autores sugere a ressecção da lesão no momento em que essa é identificada. A lobectomia é o procedimento de escolha, fornecendo excelentes resultados a longo prazo. Este artigo descreve as principais malformações pulmonares congênitas, seu diagnóstico e controvérsias quanto o tratamento. Abstract in english Congenital lung malformations are rare and vary widely in their clinical presentation and severity, depending mostly on the degree of lung involvement and their location in the thoracic cavity. They can manifest at any age and can be the source of significant morbidity and mortality in infants and c [...] hildren. Individuals with congenital lung malformations can present with respiratory symptoms at birth or can remain asymptomatic for long periods. Recently, there has been an increase in the early diagnosis of these malformations, a change that is attributable to the routine use of prenatal ultrasound. The clinical manifestation of these malformations varies from respiratory distress in the immediate postnatal period to an incidental finding on chest X-rays. Early diagnosis and prompt treatment offer the possibility of absolutely normal lung development. The treatment of asymptomatic patients with lung malformations is controversial, because the prognosis of these diseases is unpredictable. The management of these lesions depends on the type of malformation and symptoms. Because of the risk of complications, most authors recommend resection of the lesion at the time of diagnosis. Lobectomy is the procedure of choice and yields excellent long-term results. This article describes the principal congenital lung malformations, their diagnosis, and the controversies regarding treatment.

  18. The law and congenital malformations.

    Science.gov (United States)

    Brent, R L

    1986-09-01

    In 1967, I indicated that the number of lawsuits involving malformed infants seemed to be increasing, not realizing that the increase was foretelling an epidemic. The reasons for this epidemic are described in this paper and are due to attitudes and happenings in the medical, legal, and lay sectors of our society. Case histories have been used to demonstrate that the litigation process can produce pain and suffering. The case histories also indicate that, when the members of family become orchestrated by a lawyer into the position of devoting a great deal of their energy to litigation, many high priority family responsibilities are ignored and important ethical standards are distorted. To win at all costs may be good for a football team, but it is obviously bad for a family. We must take drastic changes in the method of supporting the victims of disease and injury so that litigation is no longer necessary to compensate and support patients and families, whether negligence is or is not a factor. Recommendations for diminishing the malpractice crises include: education of the patient about the consequences of the litigation process--that only a small portion of the malpractice premium dollar ever reaches the patient and that most human malformations are not produced by medical negligence, altering the deteriorating image of the physician, reversing the increase in irresponsible medical expert testimony and changing the laws pertaining to medical licensure and loss of medical licensure, improving the health care system, making the awards more realistic by taking into consideration community and insurance resources of the patient and by eliminating lump sum awards and "punitive" awards, decreasing lawyer representation in legislative bodies so that legal reforms will become a possibility, and eliminating the contingency fee system by replacing it either with legal insurance so that the attorney is working for the patient or by adopting no-fault malpractice insurance with binding arbitration so that the negligently injured patient is compensated properly. The process of litigation rarely solves the patient's problems and frequently develops into a disease all its own. PMID:3533364

  19. Clinical and molecular genetic characterization of congenital malformations

    OpenAIRE

    Winberg, Johanna

    2015-01-01

    Congenital malformations are important causes of perinatal mortality and morbidity, and around 4% of children are diagnosed with a malformation during their first year of life. Despite improved surgical treatment, several malformations are associated with lifelong sequelae requiring specialized health care. Important issues for these families are the etiology, prognosis and recurrence risk of the malformation in future pregnancies. Nowadays, around 50% of patients with malformations in combin...

  20. Gastroesophageal reflux and congenital gastrointestinal malformations.

    Science.gov (United States)

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  1. METHODS TO DIAGNOSE CONGENITAL MALFORMATIONS IN NEWBORNS

    Directory of Open Access Journals (Sweden)

    Daniela Iacob

    2009-01-01

    Full Text Available Congenital malformations, congenital anomalies and innate defects (present at birth are synonymous terms used to describe structural, functional or metabolic disorders present at birth. The science that studies the causes of these disorders is called teratology (Greek teratos = monster. As genetic and malformative disorders are very diverse, appear at different ages and affect any system or organ, the patients who suffer of these diseases can be examined by a specialist doctor, all the medical practitioners facing genetic pathology should know some principles of genetic medicine. They also should know and apply the general methodology of genetic examination, should be able to indicate the necessary genetic explorations, as well as to correctly understand and interpret their results and should be able to advice genetically in a correct manner - within his/her area of competence – the patient and/or the family facing a genetic risk. Major structural anomalies appear in 2-3% in live newborns and other 2-3% are discovered in children up to 5 years old, summarizing 4-6%. Birth defects are the first causes of infantile mortality, accounting for approximately 25% of all neonatal deaths. Minor anomalies appear in approximately 15% out of the total of newborns. These anomalies do not alter the individual’s health status, but they are associated with major defects in some cases, therefore they can serve as key elements for the diagnosis of more serious, hidden defects.

  2. The effect of Consanguineous Marriages on Congenital Malformation

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    A Mehrabi Kushki

    2005-09-01

    Full Text Available Background: Consanguinity has been a long-standing social habit among some of Iranians. The estimation of consanguinity ratios in different parts of Iran ranged from 30 to 85%. This study aimed to delineating the role of consanguinity on congenital malformations in Khominishahr rural population, Isfahan, Iran. Methods: In a case-control study, 518 malformed population (case group and 518 normal subjects (control group were randomly selected from khominishahr rural population, from July to November, 2003. Results: The frequency of consanguinity of parent’s was 59.7% in case group and 31.5% in control group. This different was statistically significant (p < 0.001. Conclusion: Family history of congenital malformation may play an important role in the high rates of congenital malformation. Key words: Consanguinity, Congenital Malformations

  3. Congenital Malformation Prevalence in Cluj District between 2003-2007

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    ?tefan I. ?IGAN

    2009-12-01

    Full Text Available Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations is increasing and varies upon geographic features, race and gender. Perinatal mortality is generated in 66.66% of cases by congenital malformations, illnesses from perinatal period and the rest of them is generated by the birth. Material and Method: The study was retrospective and was carried on for a period of five years (2003-2007 based on medical records and on laboratory results, (especially those for TORCH screening: toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Results: Major structural anomalies were present at 39.51% (388 cases of 982 patients which were registered in Genetic Pathology Center from Pediatric Clinics I, Cluj-Napoca. Diagnosed abnormalities included: congenital malformations of circulatory, respiratory, digestive, central nervous system, congenital malformations of skeletal system, Down syndrome, which is consistent with results of other studies showing that the most common are heart abnormalities (33.06%, followed in descending order of frequency by urinary, genital, CNS, skin, oral-facial cleft and digestive anomalies. Conclusions: Early detection of major malformation during early pregnancy can indicate for medical termination of pregnancy to reduce the high morbidity and mortality of neonates due to congenital malformations. So proper and timely counselling, regular antenatal care with folate supplementation especially during the most sensitive period of embryogenesis is essential to avoid major congenital malformation for future pregnancy.

  4. Amplatzer vascular plugs in congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow

  5. Congenital cardiac anomalies with vein of Galen malformations in infants

    OpenAIRE

    McElhinney, D; Halbach, Van V; Silverman, N; Dowd, C.; Hanley, F

    1998-01-01

    Published reports and personal experience are reviewed relating to patients under 1 year of age diagnosed with a vein of Galen malformation and congenital heart disease. Including five patients from this institution, a total of 23 patients (12 neonates) with congenital heart disease and a vein of Galen malformation have been reported. Six of these had sinus venosus atrial septal defect and nine had aortic coarctation.??

  6. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.; Jensen, Allan

    2014-01-01

    OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal ...

  7. Antidepressant exposure during early pregnancy and congenital malformations

    DEFF Research Database (Denmark)

    Pedersen, Lars Henning

    2011-01-01

    Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss the clinical significance. Most information on malformations in humans is derived from epidemiological studies. The strengths and limitations of the different designs need careful consideration, including...

  8. Congenital malformations and maternal occupation in Finland: multivariate analysis.

    OpenAIRE

    Hemminki, K; Mutanen, P; Saloniemi, I; Luoma, K.

    1981-01-01

    The Finnish Register of Congenital Malformations was used in a multivariate analysis to explore the associations between maternal occupation in industry and children born with central nervous system (CNS) or musculoskeletal or oral cleft malformations. Possible confounding factors were selected in preliminary screening of risk indicators for malformations. These factors included characteristics of the mother, the child, and the family; maternal illnesses; an maternal medication at the time of...

  9. Socio- Cultural Variables Of Congenital Malformation In Newborns

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    Khan Zulfia

    1997-01-01

    Full Text Available Research question: Is there an association between common socio â€" cultural variables and congenital malformation? Objectives: To determine the rate of congenital malformation at birth in hospital deliveries and its association with socio- cultural factors. Study design : Cross- sectional. Setting: J.N. Medical College Hospital and Mohanlal Gautam Rajkiya Hahila Chikitsalaya (District hospital, Aligarh. Participants: All newborn babies (including still births delivered in the two hospitals and their mothers. Study variables: Social class, religion, consanguinity of marriage, age of mother, parity, urban rural status, history of viral illness, drug intake and tobacco use during pregnancy. Outcome variables: Congenital malformations at birth. Statistical analysis: Chi- square test. Results: The overall prevalence of congenital malformations was 2.8%, being 1.6% in live births and 15.6% in stillbirths. Social class, consanguinity of marriage, parity, urban or rural status and history of viral illness during pregnancy were significantly associated with the date of congenital malformation. Conclusion: Certain socio- cultural factors are associated with congenital malformations and can be used in screening during ante- natal period.

  10. Multiple complex congenital malformations in a rabbit kit (Oryctolagus cuniculi).

    Science.gov (United States)

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-08-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  11. Monitoring congenital malformation among inhabitants of town

    International Nuclear Information System (INIS)

    In Russia rendering of medical care of inhabitants of town located not far from works of nuclear industries be provided for system of special referral centers. Now the congenital malformation (CM) is one of the most issue of the day unresolved problem protection of genetic health of populations. CM account weighty part of structure incidence nursery every where. The most of CM lead to developmental disability, substantively restrict to life span and fertility. for the present moment the treatment CM developed for isolated instances therefore special prophylaxis to take on special significance. The one way to prophylaxis is simultaneous monitoring of CM and chief factors of disutility. In the framework of the State system of monitoring of CM our research laboratory of the State Research Centre Institute of Biophysics to Make a reality monitoring CM in the families of personnel of units of the atomic industry. From 2000 and during the present moment we are logged data about 21 a species of CM. In any case monstriparity with one of these CM in the families of workers of the atomic industry we investigated this case. Pro hac vice we are logged data about professional contacts parents this child with any factors of professional disutility including ionizing radiation. During 2002 we was obtained reliable information from 13 special referral centers about 33 case of birth of baby with CM. It's average about 1/1000 from all case of birth. From this case only 12 babies with CM was birth in the families of personnel of the atomic industry. (Author)

  12. Sex and congenital malformations: an international perspective.

    Science.gov (United States)

    Lisi, Alessandra; Botto, Lorenzo D; Rittler, Monica; Castilla, Eduardo; Bianca, Sebastiano; Bianchi, Fabrizio; Botting, Beverley; De Walle, Hermien; Erickson, J David; Gatt, Miriam; De Vigan, Catherine; Irgens, Lorentz; Johnson, William; Lancaster, Paul; Merlob, Paul; Mutchinick, Osvaldo M; Ritvanen, Annukka; Robert, Elisabeth; Scarano, Gioacchino; Stoll, Claude; Mastroiacovo, Pierpaolo

    2005-04-01

    The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or syndromic. We selected cases of 26 major defects (n = 108,534); trisomy 21, 18, and 13 (n = 30,114); other syndromes (n = 2,898); and multiple congenital anomalies (n = 24,197), for a total of 165,743 cases. We observed a significant deviation of sex distribution (compared to a sex ratio of 1.06 or male proportion of 51.4%) for 24 of the 29 groups (a male excess in 16, a female excess in 8), and in 8 of such groups these estimates varied significantly across registries. A male excess was noted for two left obstructive cardiac defects (hypoplastic left heart and coarctation of the aorta) and a female excess for all the main types of neural tube defects. A male excess was seen for omphalocele but not gastroschisis. For neural tube defects the female excess tended to be stronger in areas with historically high prevalence for these defects. For 15 of the 26 birth defects the sex distribution differed among isolated, associated, and syndromic cases. Some of these epidemiologic commonalities are consistent with known or putative developmental processes. Further, the geographic variation for some defects may reflect local prevalence rates and risk factors. Finally, the findings underscore the need for clinical classification (e.g., into isolated, multiple, syndromes) in studies of birth defects. PMID:15704121

  13. The effect of Consanguineous Marriages on Congenital Malformation

    OpenAIRE

    A Mehrabi Kushki; B Zeyghami

    2005-01-01

    Background: Consanguinity has been a long-standing social habit among some of Iranians. The estimation of consanguinity ratios in different parts of Iran ranged from 30 to 85%. This study aimed to delineating the role of consanguinity on congenital malformations in Khominishahr rural population, Isfahan, Iran. Methods: In a case-control study, 518 malformed population (case group) and 518 normal subjects (control group) were randomly selected from khominishahr rural population, from July...

  14. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human ...

  15. Echography of congenital malformations of the central nervous system

    International Nuclear Information System (INIS)

    A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most frequent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid

  16. Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

    International Nuclear Information System (INIS)

    Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9th , 12th and 15th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12th and 15th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

  17. Diffusion imaging and tractography of congenital brain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Wahl, Michael [University of California, San Francisco, Department of Neurology, San Francisco, CA (United States); University of California, San Francisco, Department of Radiology, 505 Parnassus Ave., L-358, Box 0628, San Francisco, CA (United States); Barkovich, A.J.; Mukherjee, Pratik [University of California, San Francisco, Department of Radiology, 505 Parnassus Ave., L-358, Box 0628, San Francisco, CA (United States)

    2010-01-15

    Diffusion imaging is an MRI modality that measures the microscopic molecular motion of water in order to investigate white matter microstructure. The modality has been used extensively in recent years to investigate the neuroanatomical basis of congenital brain malformations. We review the basic principles of diffusion imaging and of specific techniques, including diffusion tensor imaging (DTI) and high angular resolution diffusion imaging (HARDI). We show how DTI and HARDI, and their application to fiber tractography, has elucidated the aberrant connectivity underlying a number of congenital brain malformations. Finally, we discuss potential uses for diffusion imaging of developmental disorders in the clinical and research realms. (orig.)

  18. Evaluation and management of congenital peripheral arteriovenous malformations.

    Science.gov (United States)

    Nassiri, Naiem; Cirillo-Penn, Nolan C; Thomas, Jones

    2015-12-01

    The International Society for Study of Vascular Anomalies (ISSVA) broadly categorizes vascular anomalies into vascular tumors and vascular malformations. Vascular malformations are further divided based on their flow properties into slow-flow venous and lymphatic malformations, high-flow arteriovenous malformations (AVMs), and congenital mixed syndromes, which can include combinations thereof. Whether occurring in isolation or as part of a broader syndrome, congenital high-flow AVMs are arguably the most complicated, challenging, and gratifying of all vascular malformations to diagnose and manage. Various configurations exist depending on location and coexisting clinical features. Transcatheter embolization has evolved into the mainstay of treatment for most congenital peripheral AVMs with surgical excision playing a growingly limited role as an adjunctive modality. Successful treatment requires technical precision, creativity, patience, and persistence given the ever-evolving angioarchitecture and hemodynamic profile of these lesions. Despite these challenges, certain fundamental principles have been established as our understanding of the pathogenesis, natural history, hemodynamics, and treatment outcomes has expanded and evolved over the last few decades. These principles are crucial to adhere to in the overall management of these lesions and are highlighted and expanded upon herein. PMID:26598124

  19. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

    International Nuclear Information System (INIS)

    More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

  20. Prenatal diagnosis of congenital lung malformations

    Energy Technology Data Exchange (ETDEWEB)

    Alamo, Leonor; Gudinchet, Francois; Meuli, Reto [Centre Hospitaliere Universitaire Vaudois (CHUV), Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Lausanne (Switzerland); Reinberg, Olivier [Centre Hospitaliere Universitaire Vaudois (CHUV), Department of Pediatric Surgery, Lausanne (Switzerland); Vial, Yvan; Francini, Katyuska [Centre Hospitaliere Universitaire Vaudois (CHUV), Department of Obstetrics and Gynecology, Lausanne (Switzerland); Osterheld, Maria-Chiara [Centre Hospitaliere Universitaire Vaudois (CHUV), Department of Pathology, Lausanne (Switzerland)

    2012-03-15

    Prenatal diagnosis of congenital lung anomalies has increased in recent years as imaging methods have benefitted from technical improvements. The purpose of this pictorial essay is to illustrate typical imaging findings of a wide spectrum of congenital lung anomalies on prenatal US and MRI. Moreover, we propose an algorithm based on imaging findings to facilitate the differential diagnosis, and suggest a follow-up algorithm during pregnancy and in the immediate postnatal period. (orig.)

  1. Bronchopulmonary malformations and congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Nüvit Sar?murat

    2010-05-01

    Full Text Available Airways with lung parenchyma and foregut develop from primitive foregut. Bronchopulmonary foregut molformations are the name of congenital, structural, often sporadic and non-hereditary anomalies including vessel anomalies formes during individual development of these two system following their separation from each other. The wideley observed forms are summarise in the context of this article. Congenital diaphragmatic hernia (CDH is a disease that is coused by the incomplete maturation of the diaphragm and a defect mostly on the left side, at the postero-lateral portion of the diaphragm. Diaphragm completes its growth around 4th-8th gestational age. If not then the abdominal viscera moves into the thoracic cavity and lung development is insufficient due to compression of the abdominal organs.This also causes maturation problem at the pulmonary arteries and ends up with severe pulmonary hipertansion that might be highly fatal in the newborns. (Turk Arch Ped 2010; 45 Suppl: 68-71

  2. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    Directory of Open Access Journals (Sweden)

    Boes Aaron D

    2011-12-01

    Full Text Available Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process.

  3. Congenital malformations and infant mortality from the Chernobyl reactor accident

    International Nuclear Information System (INIS)

    The health impact of radiological contamination in Bavaria from the Chernobyl accident was evaluated. According to caesium 137 levels in soil samples, Bavaria was subdivided in a higher contaminated region (Southern Bavaria) and a lower contaminated region (Northern Bavaria). Indicators for health effects were congenital malformations, perinatal mortality, and infant mortality. Definition of the study periods accounted for the temporal relationship between conception as well as organogenesis and the time of highest exposure to radioactivity during the first weeks of May 1986. Statistical analysis was based on a combined spatial and temporal comparison. The results of the study do not show a significant increase in any of the outcome variables. Consequently, this study provides no evidence that radiation from Chernobyl caused a rise in the birth prevalence of congenital malformations or perinatal and infant mortality in the Bavarian population. (orig.)

  4. Antidepressant exposure during early pregnancy and congenital malformations

    DEFF Research Database (Denmark)

    Pedersen, Lars Henning

    Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss the clinical significance. Most information on malformations in humans is derived from epidemiological studies. The strengths and limitations of the different designs need careful consideration, including issues of confounding by indication, recall bias, and power. For most antidepressants existing data are reassuring, however, an association with heart malformations has been suggested for e.g. paroxetine. A potential biological explanation will be reviewed. The potential teratogenic potential of antidepressants needs to be balanced against the obvious problems associated with under-treated maternal depression during pregnancy. Possible clinical measures may include fetal echocardiographic evaluation of exposed pregnancies.

  5. Human gene copy number spectra analysis in congenital heart malformations

    OpenAIRE

    Tomita-Mitchell, Aoy; Mahnke, Donna K.; Struble, Craig A; Tuffnell, Maureen E.; Stamm, Karl D.; Hidestrand, Mats; Harris, Susan E.; Goetsch, Mary A.; Simpson, Pippa M.; Bick, David P; Broeckel, Ulrich; Pelech, Andrew N.; Tweddell, James S.; Michael E. Mitchell

    2012-01-01

    The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical appro...

  6. Congenital malformations: an inquiry into classification and nomenclature.

    OpenAIRE

    Kalter, H

    1998-01-01

    In the beginning, as a familiar book recalls, the earth was a formless void. And by separating light from dark, water from sky, life from dust, order came forth. Thus appeared organisation and categorisation. This is to say, classification, since to classify is to make for order and clarity. These are the qualities needed today for the study of congenital malformations and eventual control of their occurrence. What follows is an inquiry into the present state of this desideratum.

  7. Survey of Congenital Major Malformation in 10,000 Newborns

    OpenAIRE

    Gh A Mamuri; Khatami, F

    2005-01-01

    Background: Congenital major malformations (CMM) are one of the most important causes of admission of newborns in hospitals, and neonatal morbidity and mortality. The incidence of CMM depends age of affected patients. In newborns infants, it is approximately 2-3%. The great majority of CMM occurs sporadic (86%), genetic and exogenic factors both play a role in their occurrence. The aim of this research is to determine the incidence and the associated factors with CMM in Iran. Methods: This is...

  8. Venous thoracic outlet syndrome caused by a congenital rib malformation

    OpenAIRE

    Kirschbaum, Andreas; Palade, Emanuel; Csatari, Zoltan; Passlick, Bernward

    2012-01-01

    Venous thoracic outlet syndrome (VTOS) represents a rare disorder. Hypertrophy of the anterior scalene musculature is the cause of the compression syndrome in most cases. To our knowledge, we describe the first reported case worldwide of a venous compression syndrome caused by a congenital malformation of the 1st and 2nd ribs. Treatment by transaxillary partial rib resection was necessary and a very good postoperative result was achieved.

  9. THE PREVALENCE OF THE HEART CONGENITAL MALFORMATIONS TO THE PREMATURE NEW BORN

    Directory of Open Access Journals (Sweden)

    Daniela Iacob

    2006-06-01

    Full Text Available Congenital heart diseases occur in approximately 1% of live-born infants and represent an important problem in pediatry. The objectives of this study are to establish the incidence of heart congenital malformations when compared to the other congenital malformations and their frequency according to some factors: risk, social background, sex and prematurity.

  10. FULL SCIENTIFIC REPORTS - Complex vertebral malformation in Holstein calves

    DEFF Research Database (Denmark)

    Agerholm, Jørgen S.; Bendixen, Christian; Andersen, Ole; Arnbjerg, Jens

    2001-01-01

    A recently observed lethal congenital defect of purebred Holstein calves is reported. Eighteen genetically related calves were necropsied. One calf had been aborted on gestation day 159, and the others were delivered between day 250 and day 285. Birth weights were reduced. The defect was characterized by shortening of the cervical and thoracic parts of the vertebral column due to multiple hemivertebrae, fused and misshaped vertebrae, and scoliosis. Symmetrical flexures of the carpal joints and t...

  11. A study on congenital vaginal malformations in rural population of north Maharashtra region

    OpenAIRE

    Sarita Ajit Deshpande, Ajit Balkrishna Deshpande

    2013-01-01

    To find out types of vaginal malformations in rural population of North Maharashtra, to study various operative procedures designed for vaginal malformations and to evaluate the use of rubber mould for McIndoe operation. Method: Eighteen cases of congenital vaginal malformations were screened in OPD. We found seventeen patients of primary amenorrhea were having congenital vaginal malformation. One patient of stricture of upper vagina was having normal menstruation. They were investigated acco...

  12. Selective serotonin reuptake inhibitors in pregnancy and congenital malformations: population based cohort study

    DEFF Research Database (Denmark)

    Pedersen, Lars Henning; Henriksen, Tine Brink; Vestergaard, Mogens; Olsen, Jørn; Bech, Bodil Hammer

    2009-01-01

    OBJECTIVE: To investigate any association between selective serotonin reuptake inhibitors (SSRIs) taken during pregnancy and congenital major malformations. DESIGN: Population based cohort study. PARTICIPANTS: 493 113 children born in Denmark, 1996-2003. MAIN OUTCOME MEASURE: Major malformations categorised according to Eurocat (European Surveillance of Congenital Anomalies) with additional diagnostic grouping of heart defects. Nationwide registers on medical redemptions (filled prescriptions), ...

  13. PATTERN OF BABIES WITH CONGENITAL MALFORMATIONS ADMITTED IN A TERTIARY NEWBORN CARE UNIT

    Directory of Open Access Journals (Sweden)

    Saminathan

    2015-05-01

    Full Text Available AIM: To determine the pattern of congenital malformation in the neonates admitted in Mahatma Gandhi Memorial government Hospital, Trichy. METHOD: 16,672 live birth babies delivered in Mahatma Gandhi Memorial government Hospital, Trichy were screened for external congenital malformation during the study period august 2011 to august 2013. Total of 232 neonates were diagnosed have congenital malformat ions. Radiological investigations was done to confirm internal anomalies in asymptomatic neonates. RESULTS: Study showed a prevalence of major con genit al malformation to be 13.9 / 1000 live births, neural tube defects being the commonest (25%. The inciden ce is significantly high in mother of age group >35 years, increasing parity, positive family history. Congenital malformation constitutes a significant proportion of neonatal mortality. CONCLUSION: Congenital malformations are higher in mothers age group of >35 increasing parity, maternal hyperglycemia and preterm babies. Periconceptional folic acid intake is important to prevent neural tube defects.

  14. Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

    OpenAIRE

    Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

    2013-01-01

    Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surg...

  15. Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers.

    Science.gov (United States)

    Dias, Mark; Partington, Michael

    2015-10-01

    The brain, spinal cord, and skin are all derived from the embryonic ectoderm; this common derivation leads to a high association between central nervous system dysraphic malformations and abnormalities of the overlying skin. A myelomeningocele is an obvious open malformation, the identification of which is not usually difficult. However, the relationship between congenital spinal cord malformations and other cutaneous malformations, such as dimples, vascular anomalies (including infantile hemangiomata and other vascular malformations), congenital pigmented nevi or other hamartomata, or midline hairy patches may be less obvious but no less important. Pediatricians should be aware of these associations, recognize the cutaneous markers associated with congenital central nervous system malformations, and refer children with such markers to the appropriate specialist in a timely fashion for further evaluation and treatment. PMID:26416933

  16. Survey of Congenital Major Malformation in 10,000 Newborns

    Directory of Open Access Journals (Sweden)

    Gh A Mamuri

    2005-11-01

    Full Text Available Background: Congenital major malformations (CMM are one of the most important causes of admission of newborns in hospitals, and neonatal morbidity and mortality. The incidence of CMM depends age of affected patients. In newborns infants, it is approximately 2-3%. The great majority of CMM occurs sporadic (86%, genetic and exogenic factors both play a role in their occurrence. The aim of this research is to determine the incidence and the associated factors with CMM in Iran. Methods: This is a prospective, analytical, and descriptive study. This study was performed with simple randomized sampling for two year, which involved all live born infants without no anomaly (control group and all newborns with CMM (patients group. There was a total of 10450 infants. Stillbirth infants and those who died in few hours after birth were excluded and finally 9200 newborns were enrolled in our study. Findings: As a result, the incidence of CMM was approximately 1.8%, isolate malformation (74% were more common than multiple malformations, musculoskeletal system were the most affected system, and multifactorial inheritance accounted the most etiologic factor. There was no predominance of the two sexes in patients group. Maternal age of over 30 years, consanguineous marriage and positive familial history of CMM, were associated with higher incidence of CMM. Rout of delivery and incidence of prematurity had no CMM incidence rate. Conclusions: Although we got the same result as other investigations, if we enrolled abortions, stillbirth infants and if we used screening tests and genetical studies, the incidence of CMM would be more than 1.8%. Smoking, using drugs, high fever, viral rash and ultrasonography during pregnancy may be probable etiologic factors in CMM. We recommend multicenteral and larger studies for CMM in Iran.

  17. Incidence and Pattern of Congenital Malformations in Gorgan-north of Iran

    OpenAIRE

    Arezo Mirfazeli; Mohammad Jafar Golalipour; Elham Mobasheri

    2013-01-01

    Congenital malformations are emerged as a common cause of fetal death and one of the most important causes of prenatal mortality and morbidity. This study was done to determine the incidence and pattern of congenital malformations in a referral hospital in Gorgan, North of Iran. This cross-sectional study was done on 6204 live birth in Dezyani hospital in Gorgan, North of Iran during a 12-month period from January 1st to December 31st of 2007. Gender, type of congenital malformations accordin...

  18. Percutaneous coil embolisation of congenital hepatic arteriovenous malformations in two patients with congenital heart disease and review of the literature

    OpenAIRE

    Al-Ata Jameel; Arfi Muhammed Amin; Hussain Arif; Kouatli A. Amjad

    2010-01-01

    Congenital hepatic arterio-venous malformations (AVM) are rare vascular anomalies and have rarely been reported in the presence of congeni-tal heart disease. The reported cases are mostly hemangiomas fed either by the hepatic artery itself or by one of its branches. We present two unique hepatic AVM cases in the presence of congenital heart defects in which the AVM was not fed by the hepatic arterial system. Transcatheter coil embolisation was successfully carried out in both of them by using...

  19. Radiology, histology and short-term outcome of asymptomatic congenital thoracic malformations

    DEFF Research Database (Denmark)

    Kongstad, Thomas; Buchvald, Frederik; Brenøe, Jørn; Petersen, Bodil Laub; Tabor, Ann; Nielsen, Kim G

    2012-01-01

    The aim of this study was to evaluate the safety and short-term outcome of our management of asymptomatic children with antenatally diagnosed congenital thoracic malformations (CTM), compared with recommendations from a recent review and meta-analysis.

  20. Association of two respiratory congenital anomalies: tracheal diverticulum and cystic adenomatoid malformation of the lung

    Energy Technology Data Exchange (ETDEWEB)

    Restrepo, S.; Villamil, M.A.; Rojas, I.C.; Lemos, D.F.; Echeverri, S. [Dept. of Radiology, Louisiana State Univ. Health Sciences Center, New Orleans, LA (United States); Angarita, M. [Dept. of Radiology, Louisiana State Univ. Health Sciences Center, New Orleans, LA (United States); Dept. of Radiology, Fundacion Santa Fe de Bogota, Bogota (Colombia); Triana, G. [Dept. of Radiology, Fundacion Santa Fe de Bogota, Bogota (Colombia)

    2004-03-01

    Many associations of congenital anomalies of the respiratory system have been reported, but the combination of tracheal diverticulum and cystic adenomatoid malformation (CCAM) is unique. We present a patient with these two anomalies and analyze their embryological correlation. (orig.)

  1. Factores de riesgo de ocurrencia y gravedad de malformaciones congénitas / Identification of risk factors for congenital malformations

    Scientific Electronic Library Online (English)

    Andrea, Canals C; Gabriel, Cavada C; Julio, Nazer H.

    2014-11-01

    Full Text Available [...] Abstract in english Background: The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. Aim: To identify risk factors for congenital malformations. Patients and Methods: Retrospective case-contro [...] l study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Results: Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother’s age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Conclusions: Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  2. Monitoring of congenital malformations in Belarus after the Chernobyl accident

    International Nuclear Information System (INIS)

    An investigation of over 21,000 embryos and fetuses from medically-induced abortions was conducted from 1980 through 1991 in the Republic of Belarus. More than half of the abortions studied were carried out after the Chernobyl nuclear accident, including 1176 from districts with 137Cs soil contamination levels over 0.6 TBq/km2 (15 Ci/km2). Congenital malformations (CM's) in 7325 newborn children also were analyzed. The data on these children were obtained from a genetic monitoring program. It was shown that in the 5 years after the Chernobyl accident the frequency of abnormal developments in aborted fetuses from contaminated areas was significantly higher than in aborted fetuses from Minsk, which was relatively uncontaminated. Additionally, the CM incidence in newborn children increased in Belarus compared to the CM incidences before the accident; the increase was most significant in the heavily contaminated areas. The increases were attributed primarily to CMS characterized by dominant mutations. These increases could have been partially caused by factors unrelated to radiation dose, including defective nourishment, chemical contaminants, and psychological stresses. A correlation between CM increase and the parents' dose has not been established. 17 refs., 6 tabs

  3. A rare combination: congenital factor VII deficiency with Chiari malformation.

    Science.gov (United States)

    Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

    2015-12-01

    Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure. PMID:26248161

  4. Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

    Science.gov (United States)

    Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

    2013-01-01

    Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surgery was successful without sequelae. The patient returned 2 years later with thrombosis of the great saphenous vein and underwent a second operation. The thrombosed vein and all varicosities were excised successfully. Surgery can be an effective method for correcting complex congenital arteriovenous malformations, especially in the lower limbs. A 2-staged surgical approach like ours might be a good option in suitable patients. PMID:24391339

  5. Dens agenesis and cervical vertebral malformation in a Labrador Retriever puppy

    Directory of Open Access Journals (Sweden)

    Salas EN

    2014-12-01

    Full Text Available Elisa N Salas,1 Henry E Cerny,2 Seth P Harris1 1Institute of Agriculture and Natural Resources, School of Veterinary Medicine and Biomedical Sciences, University of Nebraska–Lincoln, Lincoln, NE, USA; 2Yankee Hill Veterinary Hospital, Lincoln, NE, USA Abstract: Cervical vertebral malformations can cause acute or progressive pain, paralysis, and potentially death. Herein we present a case report of dens agenesis; cervical vertebral malformations of C1, C2, C6, and C7; subluxation of C1 and C2 and C4 and C5; and associated degenerative myelopathy in a 5-month-old female Labrador Retriever puppy. We additionally review current knowledge regarding pathogenesis and treatment. Keywords: atlantoaxial subluxation, cervical vertebral malformation, dog, dens agenesis, myelopathy

  6. Study of Congenital Malformations in Central Nervous System AND Gastro- Intestinal Tract

    Directory of Open Access Journals (Sweden)

    Saiyad SS

    2012-04-01

    Full Text Available Introduction: Congenital malformations comprise 8% of the perinatal mortality in India. They rank fifth as a cause of perinatal mortality, after asphyxia, respiratory problems, infections and cerebral trauma. However, the pattern is changing rapidly with improvement in health care and living standards. Material & Method: In the present study, authors have tried to study the cases of congenital malformations specially related to Central nervous system and Gastro-intestinal system. 5240 cases of newborn babies were studied and results were analyzed and classified in to various categories. Findings: The results show that malformations are more common in still birth, more in female babies and more in central nervous system In live born babies the percentage of malformation is0.63 % whereas in still born baby it is6.53 %. Conclusions: Chances of having malformations increases as the age advances. Parity of mother also influences the incidence. Exposure to radiation & drugs also influences malformations. Incidence of congenital malformation is highest in central nervous system. [National J of Med Res 2012; 2(2.000: 121-123

  7. Maternal smoking in pregnancy and risk for congenital malformations : results of a Danish register-based cohort study

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna

    2014-01-01

    OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized estimating equation for binary outcomes, with adjustment for potential confounders. MAIN OUTCOME MEASURES: Groups of congenital malformations. RESULTS: Ever smoking during pregnancy did not increase the overall risk for congenital malformations, but increased risks were observed for multiple malformations (i.e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid valves, malformations of the great arteries, pyloric stenosis and clubfoot. Infants of women who quit smoking during the first two trimesters had no increased risk for most groups of congenital malformations. CONCLUSIONS: Maternal smoking increases the risk for a number of congenital malformations. Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy.

  8. Percutaneous coil embolisation of congenital hepatic arteriovenous malformations in two patients with congenital heart disease and review of the literature

    Directory of Open Access Journals (Sweden)

    Al-Ata Jameel

    2010-08-01

    Full Text Available Congenital hepatic arterio-venous malformations (AVM are rare vascular anomalies and have rarely been reported in the presence of congeni-tal heart disease. The reported cases are mostly hemangiomas fed either by the hepatic artery itself or by one of its branches. We present two unique hepatic AVM cases in the presence of congenital heart defects in which the AVM was not fed by the hepatic arterial system. Transcatheter coil embolisation was successfully carried out in both of them by using non-detachable Gianturco coils. Complete occlusion was achieved without any sequel.

  9. Vertebral and spinal dysplasia: A novel dominantly inherited congenital defect in Holstein cattle.

    Science.gov (United States)

    Kromik, A; Kusenda, M; Tipold, A; Stein, V M; Rehage, J; Weikard, R; Kühn, C

    2015-06-01

    Monitoring and surveillance strategies are imperative for managing genetic defects in livestock populations in order to avoid detrimental effects on animal welfare and productivity. Recently, a number of previously unknown defects have been described in cattle, fostered by the huge progress in genome analysis and genomic selection. In response to reports about a potentially new defect in Holstein cattle, case-control studies were carried out to confirm a genetic background of the defect and to evaluate its phenotypic relevance. Eighty-five potentially affected offspring of a suspected carrier sire for the defect and 41 matched control calves were subjected to clinical and epidemiological monitoring on 39 farms. Forty-one animals, all offspring of the suspected carrier sire, showed pathognomonic tail malformations providing highly significant evidence for a congenital inherited defect, which was subsequently termed vertebral and spinal dysplasia (VSD). The defect is characterised by vertebral (specifically tail) deformities and neurological dysfunctions with gait abnormalities of the hind limbs. The deformities and neurological dysfunctions varied from very mild (only tail deformities) to severe (paraparesis). Detailed epidemiological monitoring provided no indication of environmental factors affecting VSD. The malformations and dysfunctions associated with VSD, as well as its mode of inheritance and the genotyping of the suspected carrier sire, indicated that VSD is a defect previously not described in cattle. VSD is inherited in a dominant mode, but shows incomplete penetrance of the phenotype, which impedes unequivocal identification of VSD carriers. A direct diagnostic genetic test for VSD is available. PMID:25862397

  10. Kidney and Urinary Tract Congenital Malformations. Diagnosis and Evolution. 1999- 2005

    International Nuclear Information System (INIS)

    A descriptive study in 351 patients at the Nephrology and Urology Services at 'Octavio de la Concepcion de la Pedraja' Teaching Pediatric Hospital from January 1999 to December 2005, was carried out. 535 kidney and urinary tract congenital malformations of 19 types were diagnosed. Primary vesicoureteral reflux and ureteropyelic stenosis were the most frequently malformations. The majority of these patients were diagnosed during the first year of the life. The most frequently clinic manifestation was urinary tract infection. Ultrasound study and cystouretrography were effective to diagnose these malformations. The majority of patients with prenatal diagnosis had congenital hydronephrosis. Posterior urethral valves were the principal cause of chronic renal failure. The I, II and III grades of Primary Vesicoureteral Reflux disappeared spontaneously with conservative treatment. There was a direct relationship between Reflux Nephropathy and the grade of these malformations

  11. Chromosomal investigations in patients with mental retardation and/or congenital malformations

    Directory of Open Access Journals (Sweden)

    Santos C.B.

    2000-01-01

    Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

  12. Congenital malformation and fetal mortality trends in counties surrounding Oak Ridge

    International Nuclear Information System (INIS)

    Stillbirth and congenital malformation death data have been evaluated for counties surrounding the Oak Ridge nuclear facilities. The observed values were compared with expected values, based on state of Tennessee and East Tennessee rates, for three time periods: prior to the existence of the nuclear facilities; the early years of operation; and the later years of operation. Oak Ridge, which is the closest city to the nuclear facilities, had significantly fewer stillbirths and no difference in congenital malformations as compared with the state or East Tennessee. No time trend was observed in the 8-county data which could be associated with the higher levels of radioactive releases during the 1944 to 1957 period followed by a period of lesser releases in the 1958 to 1971 period. However, a clustering of stillbirths was found for the last time period. In the study, no significant relationship was found between the occurrence of stillbirths and congenital malformation deaths

  13. Exposure to topical chloramphenicol during pregnancy and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Thomseth, Vilde; Cejvanovic, Vanja; Jimenez-Solem, Espen; Petersen, Kasper Meidahl; Poulsen, Henrik E; Andersen, Jon T

    2015-01-01

    PURPOSE: To investigate whether exposure to topical chloramphenicol in the first trimester of pregnancy is associated with congenital malformations. METHODS: The authors conducted a nationwide cohort study including all women giving live birth between 1997 and 2011 in Denmark. All women redeeming at least one prescription of chloramphenicol eye drops or eye ointment during the first 84 days of pregnancy were identified. Logistic regression was used to estimate the odds ratios of malformations am...

  14. PRENATAL CONGENITAL CYSTIC ADENOMATOID MALFORMATION DETECTED COINCIDENTALLY BY OBSTETRIC ULTRASOUND EXAMINATION

    OpenAIRE

    Serdar Serinsöz; Nurten Turan Güner; Arda Kayhan; Suna Saatkaya; Güllüzar Y?lmaz; Tan Cimilli

    2009-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a hamartomatous malformation accepted as embryonic differentiation anomaly characterized with replacement of normal lung parenchyma by cysts in various size and number. Previously, CCAM could only be detected by diagnostic studies for respiratory symptoms during neonatal period. Today, the diagnosis of CCAM can be made during intrauterine period via prenatal follow-up ultrasonography . CASE Twenty-five –year old female patient with a 27 wee...

  15. Maternal use of fluconazole and risk of congenital malformations: a Danish population-based cohort study

    DEFF Research Database (Denmark)

    NØrgaard, Mette; Pedersen, Lars

    2008-01-01

    OBJECTIVES: Fluconazole is widely used for the treatment of candidiasis. Although the drug is also prescribed to pregnant women, data on the safety of use of fluconazole during pregnancy are limited. We examined the association between the maternal use of fluconazole during pregnancy and the risk of congenital malformations. PATIENTS AND METHODS: In this population-based cohort study in Northern Denmark, we included 1079 women who had a live birth or a stillbirth after the 20th week of gestation and who redeemed at least one prescription for fluconazole during the first trimester. The reference cohort comprised 170 453 pregnant women who redeemed no fluconazole prescription during pregnancy. The women were identified through the Danish Medical Birth Registry. Data on drug use, birth outcome and covariates were extracted from population-based healthcare databases. We used logistic regression to estimate the prevalence odds ratio (POR) for congenital malformations after fluconazole exposure, while adjusting formaternal smoking, parity, maternal age and concurrent prescriptions for antiepileptics or antidiabetics. RESULTS: Among 1079 women who filled a fluconazole prescription during the first trimester, 797 (74%) received a total of 150 mg of fluconazole, 235 (22%) received 300 mg of fluconazole, 24 (2%) received 350 mg of fluconazole and 23 (2%) received 600 mg of fluconazole. These women gave birth to 44 (4.1%) children with congenital malformations. The 170 453 women without fluconazole prescriptions gave birth to 6152 (3.6%) children with congenital malformations. For congenital malformations overall, the adjusted POR associated with the first-trimester fluconazole use was 1.0 (95% confidence interval: 0.8-1.4). CONCLUSIONS: We found no overall increased risk of congenital malformations after exposure to short-course treatment with fluconazole in early pregnancy.

  16. Malformación adenomatoidea quística congénita Congenital cystic adenomatous malformation

    Directory of Open Access Journals (Sweden)

    PILAR ANTÓN-MARTÍN

    2011-04-01

    Full Text Available Introducción: La malformación adenomatoidea quística (MAQ es una entidad congénita poco frecuente debida a una alteración en el desarrollo alveolar pulmonar. Pacientes y Método: Se realizó un estudio descriptivo y retrospectivo de los recién nacidos con el diagnóstico prenatal de MAQ durante 6 años en un hospital terciario de Madrid (España. Resultados: Se encontraron un total de siete pacientes. Todos fueron recién nacidos a término de peso adecuado. Dos pacientes presentaron distress respiratorio al nacimiento. Dos radiografías de tórax fueron normales. En la tomografía axial (TAC, tres lesiones fueron MAQ y cuatro fueron su-gerentes de lesión híbrida. Todos se derivaron a centro con cirugía pediátrica para seguimiento. Discusión: Al nacimiento, esta patología puede permanecer asintomática y ser un hallazgo casual en una radiografía torácica. A largo plazo el riesgo de infección y malignización complican el manejo. El tratamiento conservador, que se dirige a pacientes asintomáticos, obliga a realizar controles seriados de las lesiones. El tratamiento quirúrgico se reserva para los pacientes con sintomatología o complicaciones postnatales. Conclusiones: El diagnóstico de sospecha prenatal de MAQ es fundamental dado que la clínica y radiología pueden ser normales en el período neonatal. Se debe realizar TAC torácico para confirmar la lesión y valorar futura cirugía. Se necesitan más estudios sobre el correcto diagnóstico y manejo de esta patología.Introduction: Congenital Cystic Adenomatous Malformation (CCAM is an infrequent entity due to an alteration in alveolar-pulmonary development. Material and Methods: A descriptive, retrospective study of newborns presenting CCAM in a tertiary care hospital in Madrid, Spain. Results: Seven patients were found. All were full term, normal weight births. Two patients showed respiratory distress at birth. Two chest x-rays were normal. CT scans showed three clear CCAM lesions, four suggestive of hybrid lesions. All were referred to medical centers with pediatric surgery for followup. Discussion: At birth, this pathology may be asymptomatic and appear as a chest x-ray finding. Long term management is complicated by infection and malignization. Conservative treatment of asymptomatic patients includes regular follow up of lesions. Surgical treatment is reserved for symptomatic or complicated patients. Conclusions: Prenatal suspicion of CCAM is important since clinical exam and radiology may be normal in neonatal period. Chest CT scans are important in confirming diagnosis and determining future surgery. More studies are necessary for the proper diagnosis and management of this disorder.

  17. Malformación adenomatoidea quística congénita / Congenital cystic adenomatous malformation

    Scientific Electronic Library Online (English)

    PILAR, ANTÓN-MARTÍN; M. TERESA, CUESTA-RUBIO; M. FERNANDA, LÓPEZ-GONZÁLEZ; ROBERTO, ORTIZ-MOVILLA; M. LUISA, LORENTE-JAREÑO; ESTHER, LÓPEZ-RODRÍGUEZ; LUCÍA, CABANILLAS-VILAPLANA.

    2011-04-01

    Full Text Available Introducción: La malformación adenomatoidea quística (MAQ) es una entidad congénita poco frecuente debida a una alteración en el desarrollo alveolar pulmonar. Pacientes y Método: Se realizó un estudio descriptivo y retrospectivo de los recién nacidos con el diagnóstico prenatal de MAQ durante 6 años [...] en un hospital terciario de Madrid (España). Resultados: Se encontraron un total de siete pacientes. Todos fueron recién nacidos a término de peso adecuado. Dos pacientes presentaron distress respiratorio al nacimiento. Dos radiografías de tórax fueron normales. En la tomografía axial (TAC), tres lesiones fueron MAQ y cuatro fueron su-gerentes de lesión híbrida. Todos se derivaron a centro con cirugía pediátrica para seguimiento. Discusión: Al nacimiento, esta patología puede permanecer asintomática y ser un hallazgo casual en una radiografía torácica. A largo plazo el riesgo de infección y malignización complican el manejo. El tratamiento conservador, que se dirige a pacientes asintomáticos, obliga a realizar controles seriados de las lesiones. El tratamiento quirúrgico se reserva para los pacientes con sintomatología o complicaciones postnatales. Conclusiones: El diagnóstico de sospecha prenatal de MAQ es fundamental dado que la clínica y radiología pueden ser normales en el período neonatal. Se debe realizar TAC torácico para confirmar la lesión y valorar futura cirugía. Se necesitan más estudios sobre el correcto diagnóstico y manejo de esta patología. Abstract in english Introduction: Congenital Cystic Adenomatous Malformation (CCAM) is an infrequent entity due to an alteration in alveolar-pulmonary development. Material and Methods: A descriptive, retrospective study of newborns presenting CCAM in a tertiary care hospital in Madrid, Spain. Results: Seven patients w [...] ere found. All were full term, normal weight births. Two patients showed respiratory distress at birth. Two chest x-rays were normal. CT scans showed three clear CCAM lesions, four suggestive of hybrid lesions. All were referred to medical centers with pediatric surgery for followup. Discussion: At birth, this pathology may be asymptomatic and appear as a chest x-ray finding. Long term management is complicated by infection and malignization. Conservative treatment of asymptomatic patients includes regular follow up of lesions. Surgical treatment is reserved for symptomatic or complicated patients. Conclusions: Prenatal suspicion of CCAM is important since clinical exam and radiology may be normal in neonatal period. Chest CT scans are important in confirming diagnosis and determining future surgery. More studies are necessary for the proper diagnosis and management of this disorder.

  18. Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis

    Directory of Open Access Journals (Sweden)

    Grill Franz

    2006-12-01

    Full Text Available Abstract Background Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. Case report We report a 12-year-old-female with progressive anterior vertebral fusion. This occurred at three vertebral levels. In the cervical spine there was progressive fusion of the lateral masses of the Axis with C3. Secondly, at the cervico-thoracic level, a severe, progressive, anterior thoracic vertebral fusion (C7-T5 and (T6-T7 resulted in the development of a thick anterior bony ridge and massive sclerosis and thirdly; progressive anterior fusion at L5-S1. Whereas at the level of the upper lumbar spines (L1 a split cord malformation was encountered. Situs inversus visceralis was an additional malformation. The role of the CT scan in detecting the details of the vertebral malformations was important. To our knowledge, neither this malformation complex and nor the role of the CT scan in evaluating these patients, have previously been described. Conclusion The constellations of the skeletal abnormalities in our patient do not resemble any previously reported conditions with progressive anterior vertebral fusion. We also emphasise the important role of computerized tomography in the investigation of these patients in order to improve our understanding of the underlying pathology, and to comprehend the various stages of the progressive fusion process. 3D-CT scan was performed to improve assessment of the spinal changes and to further evaluate the catastrophic complications if fracture of the ankylosed vertebrae does occur. We believe that prompt management cannot be accomplished, unless the nature of these bony malformations is clarified.

  19. Psychosocial job strain and risk of congenital malformations in offspring--a Danish National cohort study

    DEFF Research Database (Denmark)

    Larsen, A D; Hannerz, H

    2014-01-01

    OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth Cohort. POPULATION: A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. METHODS: Logistic regression analysis was used to calculate the odds of congenital malformations as a function of job strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression analyses, both crude and adjusted, indicated no associations between working under high strain and giving birth to a child with circulatory malformation (adjusted odds ratio [OR] 1.04, 95% confidence interval [95% CI] 0.75-1.44), musculoskeletal malformation (aOR 0.88, 95% CI 0.71-1.10) or any malformation (aOR 0.99, 95% CI 0.85-1.15). Supplementary analyses including restriction to first-borns and a stratified analysis with respect to manual and nonmanual work did not change the results. CONCLUSIONS: Association between exposure to high job strain during pregnancy and elevated risk of circulatory, muscle and any malformations is not supported by this study.

  20. Cardiopatias congênitas e malformações extracardíacas / Congenital heart defects and extracardiac malformations / Cardiopatías congénitas y malformaciones extracardiacas

    Scientific Electronic Library Online (English)

    Rosana Cardoso M., Rosa; Rafael Fabiano M., Rosa; Paulo Ricardo G., Zen; Giorgio Adriano, Paskulin.

    2013-06-01

    Full Text Available OBJETIVO: Revisar a associação entre cardiopatias congênitas e malformações extracardíacas. FONTES DE DADOS: A pesquisa incluiu artigos científicos presentes nos portais Medline, Lilacs e SciELO, utilizando-se os descritores "congenital heart disease", "congenital heart defects", "congenital cardiac [...] malformations", "extracardiac defects" e "extracardiac malformations". Foram incluídos os artigos de séries de casos que exploravam especificamente a associação entre cardiopatias congênitas e malformações extracardíacas. SÍNTESE DOS DADOS: A cardiopatia congênita é responsável por cerca de 40% dos defeitos congênitos, sendo uma das malformações mais frequentes e a de maior morbimortalidade. Malformações extracardíacas são observadas em 7 a 50% dos pacientes com cardiopatia congênita, trazendo um risco ainda maior de comorbidade e mortalidade e tornando a cirurgia cardíaca mais arriscada. Diferentes estudos têm tentado avaliar a presença de anormalidades extracardíacas em pacientes portadores de cardiopatia congênita. Dentre as alterações descritas, destacam-se aquelas do trato urinário. Contudo, não houve um estudo que tenha avaliado do mesmo modo todos os pacientes. CONCLUSÕES: Anormalidades extracardíacas são frequentes em pacientes com cardiopatia congênita, sendo que os portadores de tais alterações podem apresentar um risco maior de morbimortalidade. Consequentemente, alguns autores vêm discutindo a importância e o custo-benefício da triagem destas crianças à procura de outras malformações por meio de exames complementares. Abstract in spanish OBJETIVO: Revisar la asociación entre cardiopatías congénitas y malformaciones extracardiacas. FUENTES DE DATOS: Se investigaron artículos científicos presentes en los portales Medline, Lilacs y SciELO, utilizándose los descriptores «congenital heart disease», «congenital heart defects», «congenital [...] cardiac malformations», «extracardiac defects» y «extracardiac malformations». Se incluyeron todos los artículos de casos que exploraban específicamente la asociación entre cardiopatías congénitas y malformaciones extracardiacas. SÍNTESIS DE LOS DATOS: La cardiopatía congénita es responsable por un 40% de los defectos congénitos, siendo una de las malformaciones más frecuentes y la de mayor morbimortalidad. Malformaciones extracardiacas se observan en 7 a 50% de los pacientes con cardiopatía congénita, trayendo un riesgo todavía más grande de comorbilidad y mortalidad y haciendo la cirugía cardíaca más arriesgada. Distintos estudios vienen intentando evaluar la presencia de anormalidades extracardiacas en pacientes portadores de cardiopatía congénita. Entre las alteraciones descriptas, se destacan aquellas del sistema urinario. Sin embargo, no hubo estudio que haya evaluado del mismo modo a todos los pacientes. CONCLUSIONES: Anormalidades extracardiacas son frecuentes en pacientes con cardiopatía congénita, siendo que los portadores de estas alteraciones pueden presentar un riesgo mayor de morbimortalidad. Por consiguiente, algunos autores vienen discutiendo la importancia y el costo-beneficio de la selección de estos niños en búsqueda de otras malformaciones por medio de exámenes complementares. Abstract in english OBJECTIVE: To review the association between congenital heart defects and extracardiac malformations. DATA SOURCES: Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malfor [...] mations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. DATA SYNTHESIS: Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringin

  1. Prevalence of Congenital Malformations Observed in Neonates in Shariati Hospital (1381-1383

    Directory of Open Access Journals (Sweden)

    M Karbalai Aghai

    2006-07-01

    Full Text Available Background: Congenital malformations are one of the most important problems in pediatrics. The estimation of the prevalence of malformations and some probable determinants were the purpose of this study. Methods: In this retrospective study, all of the newborns that were born during three years (2002-4 were included. Hospital files of 3840 newborns were studied retrospectively and the data were collected in checklist. Finding: 118 cases had at least a major or minor malformation. Over all the prevalence of malformations was 3.1%. Male newborns showed a higher prevalence of malformations than females but with no statistical significance. The skeletal system had the highest rate of malformations, while the genitourinary system and the head and neck deformities were in the second and third position. There were no significant relations between the prevalence of malformations and the maternal age, the height and weight of the newborns and the season of birth. Conclusion: The prevalence of malformations in this study was similar to previous studies.

  2. Neonatal outcome and congenital malformations in children born after ICSI with testicular or epididymal sperm

    DEFF Research Database (Denmark)

    Fedder, J; Loft, A; Parner, Erik Thorlund; Rasmussen, S; Pinborg, A

    2013-01-01

    Does neonatal outcome including congenital malformations in children born after ICSI with epididymal and testicular sperm [testicular sperm extraction (TESE)/percutaneous epididymal sperm aspiration (PESA)/testicular sperm aspiration (TESA) (TPT)] differ from neonatal outcome in children born after ICSI with ejaculated sperm, IVF and natural conception (NC)?

  3. Unusual roentgenographic presentation of a congenital cystic malformation of the lung

    International Nuclear Information System (INIS)

    We describe here an infant with a large, solitary, fluid-filled lung cyst and hyperinflation of adjacent lung tissue in the same lobe. The combination of a fluid-filled cyst and ectatic emphysema in the same lobe suggests bronchial collapse and airway obstruction as a contributory mechanism for this unusual roentgenographic presentation of a congenital cystic malformation of the lung. (orig.)

  4. Major congenital malformations in the high and normal level radiation areas of southwest coast of Kerala

    International Nuclear Information System (INIS)

    Congenital malformations are defects in organogenesis during the fetal periods and its influence on the individual may vary according to the type of malformation. Some congenital malformations are trivial and may not have any significance but for a minimal cosmetic deformity. Major malformations on the contrary may be severe enough to be life-threatening with serious structural, functional or cosmetic disability requiring surgical or medical management and are an important cause of mortality and morbidity all over the world. The present paper analyses the major malformations detected during the monitoring of newborns in selected government hospitals in and around the high level natural radiation areas of Kerala, a narrow strip of land in the southwest coast extending from Purakkad panchayat of Alapuzha district in the north to Neendakara Panchayat of Quilon district in the south. The coastal area has natural deposits of Monazite sand containing Thorium. Thorium together with its daughter products accounts for the elevated levels of natural radiation. The finding in general was in conformity with similar works on malformations

  5. Risk of congenital malformations among children of construction painters in Denmark : a nationwide cohort study

    DEFF Research Database (Denmark)

    Tougaard, Ninna Hahn; Bonde, Jens Peter

    2015-01-01

    OBJECTIVES: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during pregnancy. In Denmark, women comprise half of those enrolled in vocational paint training. We investigated the association between maternal and paternal occupational painting, respectively, and the risk of congenital malformations among children. METHODS: National register data were used to link childbirths, malformations, and parental occupation. The cohort included >1 300 000 children born to occupationally active women in Denmark 1980-2010. Cases were hospital-diagnosed with malformations within the first year of life. Odds ratios (OR) with 95% confidence intervals (95% CI) were estimated using multiple logistic regression with adjustment for potential confounders. RESULTS: Among 3444 children of female construction painters, we found no increased risk of malformations overall (126 cases, OR 0.88, 95% CI 0.74-1.05) or in organ-specific subgroups compared to children of women in all other occupations (55 045 cases). Sensitivity analyses restricted to severe malformations, children of maternal painters with ?2 years of pre-pregnancy exposure, and firstborn children, and analyses with maternal healthcare assistants and kitchen workers as reference supported the main results. Also, no associations were found when including diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female construction painters.

  6. Functional variant in methionine synthase reductase intron-1 is associated with pleiotropic congenital malformations.

    Science.gov (United States)

    Cheng, Haiqin; Li, Huili; Bu, Zhaoli; Zhang, Qin; Bai, Baoling; Zhao, Hong; Li, Ren-Ke; Zhang, Ting; Xie, Jun

    2015-09-01

    Congenital malformations, such as neural tube defects (NTDs) and congenital heart disease (CHD), cause significant fetal mortality and childhood morbidity. NTDs are a common congenital anomaly, and are typically induced by higher maternal homocysteine (Hcy) levels and abnormal folate metabolism. The gene encoding methionine synthase reductase (MTRR) is essential for adequate remethylation of Hcy. Previous studies have focused on the coding region of genes involved in one-carbon metabolism, but recent research demonstrates that an allelic change in a non-coding region of MTRR (rs326119) increases the risk of CHD. We hypothesized that this variant might contribute to the etiology of NTDs as well, based on a common role during early embryogenesis. In the present study, 244 neural tube defect cases and 407 controls from northern China were analyzed to determine any association (by ? (2) test) between rs326119 and disease phenotypes. Significant increased risk of anencephaly was seen in MTRR variant rs326119 heterozygote (het) and homozygote (hom) individuals [odds ratios (OR)het = 1.81; ORhom = 2.05)]. Furthermore, this variant was also a risk factor for congenital malformations of the adrenal gland (OR = 1.85), likely due to multiple systemic malformations in the NTDs case population. Our present data indicate that the rs326119 non-coding variant of MTRR has a pleiotropic effect on the development of multiple tissues, especially during early stages in utero. This suggests the allelic state of MTRR is a significant clinical factor affecting Hcy levels and optimal folic supplementation. PMID:26045171

  7. Congenital Arteriovenous Malformation of the Forearm and Hand.

    Science.gov (United States)

    Collins, A; Cronin, K

    2015-09-01

    We report the case of an asymptomatic arteriovenous malformation (AVM), extending from the forearm into the palm, in an 11-year-old boy. A debulking procedure was performed meticulously dissecting the lesion from the involved structures. The post-operative course was uncomplicated and no evidence of recurrence was noted at eighteen months follow-up. Extensive AVMs involving structures vital for hand function may be asymptomatic. Clinical follow-up is paramount, due to the inherent risk of recurrence. PMID:26485836

  8. Psychosocial job strain and risk of congenital malformations in offspring

    DEFF Research Database (Denmark)

    Larsen, Allan Boye Vagn; Hannerz, H; Thulstrup, A M; Bonde, J P; Obel, C; Hougaard, K S

    2014-01-01

    OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth Cohort. POPULATION: A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. METHODS: Logis...

  9. Bisphenol A induces otolith malformations during vertebrate embryogenesis

    Directory of Open Access Journals (Sweden)

    Demeneix Barbara

    2011-01-01

    Full Text Available Abstract Background The plastic monomer and plasticizer bisphenol A (BPA, used for manufacturing polycarbonate plastic and epoxy resins, is produced at over 2.5 million metric tons per year. Concerns have been raised that BPA acts as an endocrine disruptor on both developmental and reproductive processes and a large body of evidence suggests that BPA interferes with estrogen and thyroid hormone signaling. Here, we investigated BPA effects during embryonic development using the zebrafish and Xenopus models. Results We report that BPA exposure leads to severe malformations of the otic vesicle. In zebrafish and in Xenopus embryos, exposure to BPA during the first developmental day resulted in dose-dependent defects in otolith formation. Defects included aggregation, multiplication and occasionally failure to form otoliths. As no effects on otolith development were seen with exposure to micromolar concentrations of thyroid hormone, 17-ß-estradiol or of the estrogen receptor antagonist ICI 182,780 we conclude that the effects of BPA are independent of estrogen receptors or thyroid-hormone receptors. Na+/K+ ATPases are crucial for otolith formation in zebrafish. Pharmacological inhibition of the major Na+/K+ ATPase with ouabain can rescue the BPA-induced otolith phenotype. Conclusions The data suggest that the spectrum of BPA action is wider than previously expected and argue for a systematic survey of the developmental effects of this endocrine disruptor.

  10. Fetal magnetic resonance imaging. Diagnostics in cases of congenital cystadenomatoid malformation; Fetale Magnetresonanztomographie. Diagnostik bei zystadenomatoider Malformation der Lunge (CCAM)

    Energy Technology Data Exchange (ETDEWEB)

    Buesing, K.A.; Kilian, A.K.; Neff, K.W. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Institut fuer Klinische Radiologie, Universitaetsklinikum Mannheim, Mannheim (Germany); Schaible, T. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Kinderklinik, Universitaetsklinikum Mannheim, Mannheim (Germany)

    2006-02-15

    Despite advancing therapeutic strategies, congenital cystadenomatoid malformation of the fetal lung is still a potentially life-threatening anomaly. Antenatally, the development of hydrops as well as the natural history of the malformation is of particular therapeutic and prognostic importance. Postnatally, respiratory distress due to pulmonary hypoplasia counts as a crucial limiting factor. Owing to its feasibility and practicability, as well as a high sensitivity, antenatal ultrasound is still the screening method of choice for the detection of fetal thoracic malformations. However, particularly in cases of indistinguishable sonographic findings, fetal MRI is the modality of choice for proving the diagnosis and preliminary appraisal of intensive care therapy and extracorporal membrane oxygenation postnatally. Furthermore, fetal MRI often facilitates assessment and planning of intrauterine surgical procedures. These two features frequently require a close transfer to an expert neonatal centre. (orig.) [German] Trotz verbesserter Therapien stellt die kongenitale zystadenomatoide Malformation der Lunge fuer den Feten weiterhin eine potenziell lebensbedrohliche Missbildung dar. Praenatal sind insbesondere ein Hydrops fetalis sowie der Spontanverlauf von prognostischer und therapeutischer Relevanz. Postnatal kommt der Lungenhypoplasie eine entscheidende Bedeutung zu. Aufgrund der hohen Verfuegbarkeit und Sensitivitaet bleibt die Primaerdiagnostik weiterhin dem Ultraschall vorbehalten. Die fetale MRT hingegen hat sich insbesondere bei unklarer sonographischer Befundlage als Methode der Wahl etabliert. Neben der Diagnosesicherung erleichtert sie durch eine uebersichtliche Darstellung der Befundausdehnung haeufig die Abschaetzung einer postnatalen Intensivtherapie. Mit zunehmender Erfahrung beim Einsatz fetalchirurgischer Verfahren kommt ihr ferner eine wachsende Bedeutung in der Indikationsstellung und Planung praenataler Therapien zu. Beides erfordert u. U. die zeitnahe Zuweisung in eine Spezialklinik. (orig.)

  11. Maternal occupation in the leather industry and selected congenital malformations

    OpenAIRE

    A. M. Garcia; Fletcher, T

    1998-01-01

    OBJECTIVES: Data from a hospital based case-control study were analysed to assess the relation between maternal occupation in the leather industry and several groups of congenital defects (nervous system, cardiac defects of closure, oral cleft, epispadia or hypospadia, and multiple anomalies). METHODS: Cases and controls were selected from eight public hospitals in Comunidad Valenciana, Spain, in 1993 and 1994. Cases were located from the hospital discharge records, including children b...

  12. Congenital cystic adenomatoid malformation of the lung: hazards of delayed diagnosis.

    LENUS (Irish Health Repository)

    Collins, Anne M

    2012-02-01

    Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.

  13. A link between solar events and congenital malformations: Is ionizing radiation enough to explain it?

    CERN Document Server

    Overholt, A C; Atri, D

    2015-01-01

    Cosmic rays are known to cause biological effects directly and through ionizing radiation produced by their secondaries. These effects have been detected in airline crews and other specific cases where members of the population are exposed to above average secondary fluxes. Recent work has found a correlation between solar particle events and congenital malformations. In this work we use the results of computational simulations to approximate the ionizing radiation from such events as well as longer term increases in cosmic ray flux. We find that the amounts of ionizing radiation produced by these events are insufficient to produce congenital malformations under the current paradigm regarding muon ionizing radiation. We believe that further work is needed to determine the correct ionizing radiation contribution of cosmogenic muons. We suggest that more extensive measurements of muon radiation effects may show a larger contribution to ionizing radiation dose than currently assumed.

  14. Case-control study of congenital malformations and occupational exposure to low-level ionizing radiation

    International Nuclear Information System (INIS)

    In a case-control study, the authors investigated the association of parental occupational exposure to low-level external whole-body penetrating ionizing radiation and risk of congenital malformations in their offspring. Cases and controls were ascertained from births in two counties in southeastern Washington State, where the Hanford Site has been a major employer. A unique feature of this study was the linking of quantitative individual measurement of external whole-body penetrating ionizing radiation exposure of employees at the Hanford Site, using personal dosimeters, and the disease outcome, congenital malformations. The study population included 672 malformation cases and 977 matched controls from births occurring from 1957 through 1980. Twelve specific malformation types were analyzed for evidence of association with employment of the parents at Hanford and with occupational exposure to ionizing radiation. Two defects, congenital dislocation of the hip and tracheoesophageal fistula, showed statistically significant associations with employment of the parents at Hanford, but not with parental radiation exposure. Neural tube defects showed a significant association with parental preconception exposure, on the basis of a small number of cases. Eleven other defects, including Down syndrome, for which an association with radiation was considered most likely, showed no evidence of such an association. When all malformations were analyzed as a group, there was no evidence of an association with employment of the parents at Hanford, but the relation of parental exposure to radiation before conception was in the positive direction (one-tailed p value between 0.05 and 0.10). Given the number of statistical tests conducted, some or all of the observed positive correlations are likely to represent false positive findings. 30 references

  15. Fetal magnetic resonance imaging. Diagnostics in cases of congenital cystadenomatoid malformation

    International Nuclear Information System (INIS)

    Despite advancing therapeutic strategies, congenital cystadenomatoid malformation of the fetal lung is still a potentially life-threatening anomaly. Antenatally, the development of hydrops as well as the natural history of the malformation is of particular therapeutic and prognostic importance. Postnatally, respiratory distress due to pulmonary hypoplasia counts as a crucial limiting factor. Owing to its feasibility and practicability, as well as a high sensitivity, antenatal ultrasound is still the screening method of choice for the detection of fetal thoracic malformations. However, particularly in cases of indistinguishable sonographic findings, fetal MRI is the modality of choice for proving the diagnosis and preliminary appraisal of intensive care therapy and extracorporal membrane oxygenation postnatally. Furthermore, fetal MRI often facilitates assessment and planning of intrauterine surgical procedures. These two features frequently require a close transfer to an expert neonatal centre. (orig.)

  16. Surveillance of congenital malformations and their possible risk factors in a teaching hospital in Punjab

    OpenAIRE

    Sheeba Marwah; Sushmita Sharma; Harpreet Kaur; Monika Gupta; SPS Goraya

    2014-01-01

    Background: Congenital malformations (CMF) are third most common cause of perinatal mortality in India making their prediction and prevention highly eminent. The present study was designed to analyze the frequency, distribution and patterns of CMF among babies born in a teaching hospital in Punjab, along-with factors contributing towards their occurrence. Methods: This was a prospective study in which the incidence of CMF was determined in 1554 consecutive deliveries conducted at Gian Saga...

  17. Cancer Risks in Parents Who had a Child with a Congenital Malformation

    DEFF Research Database (Denmark)

    Sun, Yuelian; Overvad, Kim; Zhou, Wei Jin; Zhu, Jin Liang; Olsen, Jørn

    2013-01-01

    Cancer risk in parents may be related to congenital malformations (CMs) in their children if they share genetic susceptibility or environmental exposure that may be teratogenic and carcinogenic. We conducted a population-based cohort study based on Danish register data. We identified 795,607 mothers and 781,424 fathers who had all their children between 1977 and 2007 in Denmark. Information on CM was obtained from the Danish Hospital Registry and information on cancer was obtained from the Danis...

  18. Prematurity, asphyxia and congenital malformations underrepresented among neonates in a tertiary pediatric hospital in Vietnam

    OpenAIRE

    Kruse Alexandra Y; Ho Binh TT; Phuong Cam N; Stensballe Lone G; Greisen Gorm; Pedersen Freddy K

    2012-01-01

    Abstract Background Estimated 17,000 neonates (? 28 days of age) die in Vietnam annually, corresponding to more than half of the child mortality burden. However, current knowledge about these neonates is limited. Prematurity, asphyxia and congenital malformations are major causes of death in neonates worldwide. To improve survival and long term development, these vulnerable neonates need access to the specialized neonatal care existing, although limited, in lower middle-income countries like ...

  19. Prevalence and pattern of congenital malformations among neonates in the neonatal unit of a teaching hospital

    International Nuclear Information System (INIS)

    Objective: To determine the prevalence and pattern of congenital malformations among neonates in a teaching hospital. Methods: The prospective hospital-based study was conducted over a period of 18 months in the neonatal unit of Combined Military Hospital, Kharian, from September 2011 to February 2013. All neonates from newborn to 28 days of age admitted to the unit irrespective of their condition comprised the study population. Neonatal examination was done by the Registrar at the time of admission followed by neonatologist/paediatrician. Information regarding gender, weight, gestational age, mode of delivery, consanguinity, maternal age, antenatal visit record and family history were recorded on a predesigned proforma. After clinical examination, if required, relevant investigations like ultrasonography, radiology, echocardiography, laboratory and genetic studies were done to confirm diagnosis. Data was statistically analysed by using SPSS 20. Results: Out of 3,210 total admissions, 226 (7%) neonates were congenitally malformed. Of them, 130 (57.52 %) were male and 96 (42.47 %) females. Among different body systems affected, anomalies related to the central nervous system were 46(20.35%) musculoskeletal 42(18.58%), genitourinary 34 (15.04%), cardiovascular system 30 (13.27%), ear, eye, face, neck 27(11.94%), digestive system 19 (8.40%), syndromes and skin 14 (6.19%) each. Conclusion: Congenital Malformations are not rare in our community and central nervous system is the most commonly affected system. Healthcare managers must stress upon primary prevention in the form of vaccination, nutrition and drugs to decrease preventable share of congenital malformations. (author)

  20. Spontaneous and radiation induced congenital malformations including their roles in miscarriages and stillbirths

    International Nuclear Information System (INIS)

    In the study described here an attempt was made to draw from a wide range of different sources data on the induction of congenital anomalies (malformations or defects existing at birth) by ionising and non-ionising rays during the various stages of gestation. This survey was chiefly based on findings in humans, results from animal experiments were solely included in cases where no suitable material was available for Man. (orig.)

  1. Complex Genital Malformation in a Female with Congenital Adrenal Hyperplasia: Evaluation with Magnetic Resonance Imaging

    Energy Technology Data Exchange (ETDEWEB)

    Klessen, C.; Asbach, P.; Hein, P. A.; Beyersdorff, D.; Hamm, B.; Taupitz, M. [Humboldt-Univ. of Berlin, Campus Charite Mitte (Germany). Dept. of Radiology

    2005-12-01

    This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence.

  2. Inheritance Analysis of Congenital Left Ventricular Outflow Tract Obstruction Malformations: Segregation, Multiplex Relative Risk, and Heritability

    OpenAIRE

    McBride, Kim L; Pignatelli, Ricardo; Lewin, Mark; Ho, Trang; Fernbach, Susan; Menesses, Andres; Lam, Wilbur; Leal, Suzanne M.; Kaplan, Norman; Schliekelman, Paul; Towbin, Jeffrey A; Belmont, John W.

    2005-01-01

    The left ventricular outflow tract (LVOTO) malformations, aortic valve stenosis (AVS), coarctation of the aorta (COA), and hypoplastic left heart (HLH) constitute a mechanistically defined subgroup of congenital heart defects that have substantial evidence for a genetic component. Evidence from echocardiography studies has shown that bicuspid aortic valve (BAV) is found frequently in relatives of children with LVOTO defects. However, formal inheritance analysis has not been performed. We asce...

  3. Gastrointestinal system malformations in children are associated with congenital heart defects

    Directory of Open Access Journals (Sweden)

    Utku Arman Örün

    2011-03-01

    Full Text Available Objective: To determine the frequency of congenital heart defects (CHD in children with gastrointestinal malformations (GISM and mortality rates in patients with GISM. Methods: Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Results: Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8% were male and 107 (44.2% were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%, atresia involving stomach, ileum or colon (21% and esophageal atresia/tracheoesophageal fistula (18.3%. Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9% a, ventricular septal defect (17 patients, 24.6% and patent ductus arteriosus (5 patients, 7.2%. There was no significant difference (p>0.05 in mortality rate in patients with CHD (16.7% and without CHD (13.3% undergoing operations for GISM. Conclusion: We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

  4. Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy

    International Nuclear Information System (INIS)

    Purpose: Analysis of the incidence of congenital brain malformations in children with spastic cerebral palsy (CP) in a hospital based study. Material and Methods: The present study included 74 boys and 56 girls with spastic tetraplegia, diplegia, and hemiplegia CP. Magnetic resonance imaging MRI findings were analyzed in children with CP. Results: Significant abnormalities relevant to the CP were evident on MRI in 124 (95.3%) subjects. Periventicular leukomalacia (PVL) was detected more frequently in children with spastic diplegia than in patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more often in children with spastic hemiplegia. Congenital brain anomalies were evident in 15 (10.7%) children with spastic CP. Brain malformations included: schizencephaly (5), agenesis corpus callosum (4), polymicrogyria (2), holoprosencephaly (2) and lissencephaly (2). Intractable epilepsy and mental retardation were observed more often in children with brain anomalies. Twelve patients with congenital brain malformations were born at term and three born at preterm. Conclusions: Neuroimaging results in children with CP may help determine the etiology and make better prognosis of CP. (authors)

  5. Malformações congênitas do pâncreas: um caso clínico / Congenital pancreas malformations: a clinical case report

    Scientific Electronic Library Online (English)

    Ana, Bento; Hamilton, Baptista; Fernando, Oliveira.

    2013-02-01

    Full Text Available OBJETIVO: Este trabalho tem por objetivo fazer uma revisão da malformação congênita denominada de agenesia dorsal do pâncreas (ADP) e de outras malformações congênitas pancreáticas, com base em um caso clínico raro e exemplar da problemática das malformações pancreáticas. Pretende-se rever a informa [...] ção mais recente publicada na literatura nacional e internacional acerca das malformações congênitas pancreáticas e investigar a diversidade de formas de apresentação clínica da ADP e de outras malformações congênitas do pâncreas. Pretende-se saber em que situações há indicação terapêutica, qual a altura mais adequada de intervir, quais as modalidades disponíveis para o tratamento médico e ou cirúrgico das malformações congênitas pancreáticas. RESULTADOS: A ADP é uma malformação muito rara que surge durante a organogênese. Nas últimas décadas, foi produzido um volume importante de informação genética e embriológica que ajuda a compreender as causas das malformações pancreáticas. As malformações pancreáticas têm de ser estudadas e compreendidas no seu conjunto. CONCLUSÃO: A malformação pancreática é uma causa de pancreatite aguda e crônica no adulto, pouco estudada. A possibilidade da existência de malformações pancreáticas deve estar sempre presente em doentes com pancreatite aguda ou crônica sem causa evidente. Abstract in english OBJECTIVE: This study aimed to review the congenital malformation known as agenesis of the dorsal pancreas (ADP) and other pancreatic birth defects, based on a rare and exemplary clinical case of pancreatic malformations. The intent was to review the latest information published in the national and [...] international literature on pancreatic birth defects, and to investigate the diversity of clinical presentations of ADP and other congenital pancreas abnormalities. The purpose was to identify which situations have therapeutic indication, the most appropriate time to institute treatment, and the currently available medical or surgical treatment of pancreatic congenital malformations. RESULTS: ADP is a very rare malformation that occurs during organogenesis. In the last decades, a large volume of embryological and genetic information has been obtained, helping to understand the causes of pancreatic malformations, which must be studied and understood as a whole. CONCLUSION: Pancreatic malformations are infrequently studied causes of acute and chronic pancreatiWtis in adults. The possibility of pancreatic malformations should always be considered in patients with acute or chronic pancreatitis with no evident cause.

  6. Malformações congênitas do pâncreas: um caso clínico Congenital pancreas malformations: a clinical case report

    Directory of Open Access Journals (Sweden)

    Ana Bento

    2013-02-01

    Full Text Available OBJETIVO: Este trabalho tem por objetivo fazer uma revisão da malformação congênita denominada de agenesia dorsal do pâncreas (ADP e de outras malformações congênitas pancreáticas, com base em um caso clínico raro e exemplar da problemática das malformações pancreáticas. Pretende-se rever a informação mais recente publicada na literatura nacional e internacional acerca das malformações congênitas pancreáticas e investigar a diversidade de formas de apresentação clínica da ADP e de outras malformações congênitas do pâncreas. Pretende-se saber em que situações há indicação terapêutica, qual a altura mais adequada de intervir, quais as modalidades disponíveis para o tratamento médico e ou cirúrgico das malformações congênitas pancreáticas. RESULTADOS: A ADP é uma malformação muito rara que surge durante a organogênese. Nas últimas décadas, foi produzido um volume importante de informação genética e embriológica que ajuda a compreender as causas das malformações pancreáticas. As malformações pancreáticas têm de ser estudadas e compreendidas no seu conjunto. CONCLUSÃO: A malformação pancreática é uma causa de pancreatite aguda e crônica no adulto, pouco estudada. A possibilidade da existência de malformações pancreáticas deve estar sempre presente em doentes com pancreatite aguda ou crônica sem causa evidente.OBJECTIVE: This study aimed to review the congenital malformation known as agenesis of the dorsal pancreas (ADP and other pancreatic birth defects, based on a rare and exemplary clinical case of pancreatic malformations. The intent was to review the latest information published in the national and international literature on pancreatic birth defects, and to investigate the diversity of clinical presentations of ADP and other congenital pancreas abnormalities. The purpose was to identify which situations have therapeutic indication, the most appropriate time to institute treatment, and the currently available medical or surgical treatment of pancreatic congenital malformations. RESULTS: ADP is a very rare malformation that occurs during organogenesis. In the last decades, a large volume of embryological and genetic information has been obtained, helping to understand the causes of pancreatic malformations, which must be studied and understood as a whole. CONCLUSION: Pancreatic malformations are infrequently studied causes of acute and chronic pancreatiWtis in adults. The possibility of pancreatic malformations should always be considered in patients with acute or chronic pancreatitis with no evident cause.

  7. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2006-07-15

    The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

  8. Fragile X syndrome in two siblings with major congenital malformations

    Energy Technology Data Exchange (ETDEWEB)

    Giampietro, P.F.; Haas, B.R.; Lipper, E. [Cornell Univ. Medical Center, New York, NY (United States)] [and others

    1996-05-17

    We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2{1/2}, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolution chromosome analysis showed a 46,XY chromosome constitution in both siblings. By PCR and Southern blot analysis, the siblings were found to have large triplet repeat expansions in the fragile X gene (FMR 1) and both had methylation mosaicism. Enzyme kinetic studies of iduronate sulfatase demonstrated a two-fold increase in activity in the first sib as compared to the second. Possible mechanisms through which the fragile X mutation can cause down-regulation of adjacent loci are discussed. 24 refs., 4 figs.

  9. Congenital heart malformations induced by hemodynamic altering surgical interventions

    Directory of Open Access Journals (Sweden)

    SandraRugonyi

    2014-08-01

    Full Text Available Embryonic heart formation results from a dynamic interplay between genetic and environmental factors. Blood flow during early embryonic stages plays a critical role in heart development, as interactions between flow and cardiac tissues generate biomechanical forces that modulate cardiac growth and remodeling. Normal hemodynamic conditions are essential for proper cardiac development, while altered blood flow induced by surgical manipulations in animal models result in heart defects similar to those seen in humans with congenital heart disease. This review compares the altered hemodynamics, changes in tissue properties, and cardiac defects reported after common surgical interventions that alter hemodynamics in the early chick embryo, and shows that interventions produce a wide spectrum of cardiac defects. Vitelline vein ligation and left atrial ligation decrease blood pressure and flow; and outflow tract banding increases blood pressure and flow velocities. These three surgical interventions result in many of the same cardiac defects, which indicate that the altered hemodynamics interfere with common looping, septation and valve formation processes that occur after intervention and that shape the four-chambered heart. While many similar defects develop after the interventions, the varying degrees of hemodynamic load alteration among the three interventions also result in varying incidence and severity of cardiac defects, indicating that the hemodynamic modulation of cardiac developmental processes is strongly dependent on hemodynamic load.

  10. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

    Science.gov (United States)

    Pavone, Piero; Praticò, Andrea D; Falsaperla, Raffaele; Ruggieri, Martino; Zollino, Marcella; Corsello, Giovanni; Neri, Giovanni

    2015-01-01

    Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported. PMID:26242548

  11. Malformaciones congénitas en Chile.: Un problema emergente (período 1995-1999 Frequency of congenital malformations in Chilean hospitals in the period 1995-1999

    Directory of Open Access Journals (Sweden)

    Julio Nazer H

    2001-08-01

    Full Text Available Background: The Latin American collaborative study of congenital malformations (ECLAMC is a surveillance program designed to monitor the frequency of congenital malformations and detect abrupt changes in their frequency, look for the cause of such change and implement primary prevention measures. Aim: To construct a secular trend curve with the frequency of congenital malformations in Chile. Material and methods: Using the ECLAMC protocol, every malformed newborn or stillbirth, weighting more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. Using the gathered data, secular trend curves of congenital malformations were constructed. Results: Between 1982 and 1999, there is a secular tendency in the rate of congenital malformations and maternal age, with a correlation coefficient of 0.8 and slope of 13.5 (p<0.05. The rates of congenital malformations at the moment of birth are higher at the University of Chile Clinical Hospital than in the rest of Chilean hospitals and other Latin American Hospitals. Anencephalia is a defect with a high frequency in Concepción and spina bifida has a high frequency in Rancagua, Viña del Mar, Concepción and Valdivia. There is an impressive increase in malformations dependent on prenatal diagnosis such as kidney agenesis, polycystic kidney and diaphragmatic hernia. Conclusions: Congenital malformations are having an increasing importance as causes of morbidity or mortality in the newborn. (Rev Méd Chile 2001; 129: 895-904.

  12. Use of corticosteroids in early pregnancy is not associated with risk of oral clefts and other congenital malformations in offspring

    DEFF Research Database (Denmark)

    Bay BjØrn, Anne-Mette; Ehrenstein, Vera

    2012-01-01

    Corticosteroids are commonly used to treat inflammatory diseases. There is conflicting evidence regarding the association of corticosteroid use in pregnancy and congenital malformations in offspring. We conducted a prevalence study of 83,043 primiparous women who gave birth to a live-born singleton in northern Denmark, in 1999-2009. Through medical registries, we identified prescriptions for corticosteroids, congenital malformations, and covariates. Furthermore, we summarized the literature on this topic. Overall, 1449 women (1.7%) used inhaled or oral corticosteroids from 30 days before conception throughout the first trimester. Oral cleft in the offspring was recorded for 1 of the users (0.08%) and 145 of the nonusers (0.2%), prevalence odds ratio (OR) 0.47 [95% confidence interval (CI), 0.07-3.34]. The prevalence OR for congenital malformations overall was 1.02 (95% CI, 0.79-1.32). According to published studies, the use of corticosteroids in early pregnancy was associated with congenital malformations overall with relative estimates ranging from 0.8 (95% CI, 0.4-1.7) to 2.1 (95% CI, 0.5-9.6). For oral clefts, the ORs ranged from 0.6 (95% CI, 0.2-1.7) to 5.2 (95% CI, 1.5-17.1). We found no evidence of an association between use of corticosteroids in early pregnancy and risk of congenital malformations in offspring.

  13. Congenital malformations among live births at arvand hospital, ahwaz, iran - a prospective study

    International Nuclear Information System (INIS)

    The aim of the study was to determine the profile of congenital malformations (CM) among live births at Arvand hospital, in Ahwaz city. In this prospective study all of the neonates born at Arvand hospital in Ahwaz from 2004 to 2006 were registered. Stillbirths and those who died in a few hours after birth were excluded and finally 4660 newborns were enrolled. Of the 4660 live births 94 (20.2/1000) had at least a CM. The predominant systems involved were musculoskeletal (7.9/1000), followed by genitourinary (7.1/1000), central nervous (2.4 /1000), digestive (1.1/1000) and chromosomal anomalies (0.9/1000). Although the frequency of malformations in the study was approximately similar to other investigations, if we include abortions, stillbirths and if we used screening tests and genetic studies, this rate was more than 20.1/1000. (author)

  14. Congenital Lobar Emphysema Associated with Cystic Adenomatoid Malformation Type I: Case Report

    International Nuclear Information System (INIS)

    Congenital lung abnormalities are a heterogeneous group of alterations in lung development, and many of them are asymptomatic, but is important to know, they must enter the differential diagnosis of patients respiratory distress syndrome. Some of these lesions can coexist, the point where the pulmonary sequestration may present with adenomatoid malformation cystic type II in over 50% of cases. Although the final diagnosis for this histological type of injury is, images play an important role for initial approach. Natural history of these malformations depends lung the size of the lung mass and physiological problem that this causes. The CT multidetector computed expanded knowledge of lung anatomy and improves visualization of the tracheobronchial tree in the pediatric population.

  15. PRENATAL CONGENITAL CYSTIC ADENOMATOID MALFORMATION DETECTED COINCIDENTALLY BY OBSTETRIC ULTRASOUND EXAMINATION

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    Serdar Serinsöz

    2009-01-01

    Full Text Available Congenital cystic adenomatoid malformation (CCAM is a hamartomatous malformation accepted as embryonic differentiation anomaly characterized with replacement of normal lung parenchyma by cysts in various size and number. Previously, CCAM could only be detected by diagnostic studies for respiratory symptoms during neonatal period. Today, the diagnosis of CCAM can be made during intrauterine period via prenatal follow-up ultrasonography . CASE Twenty-five –year old female patient with a 27 week pregnancy was evaluated by obstetric Doppler ultrasonographic examination for routine follow-up. The US findings of coincidentally detected CCAM was reviewed in the light of literature. DISCUSSION The treatment and prognosis of CCAM depends on the type and the effect of the lesion . The detection of the lesion as early as possible is noteworthy for prevision and the appropriate treatment management. An attentive evaluation and accurate guidance in prenatal period is of great importance for detection of possible problems particularly in neonatal period.

  16. Prevalence at birth of congenital malformations in communities near the Hanford site

    International Nuclear Information System (INIS)

    The authors examined the prevalence of congenital malformations among births in Benton and Franklin counties, in southeastern Washington State, from 1968 through 1980. The Hanford Site is in this area and serves as a major employer. In addition, various agriculturally and chemically related activities are in the area. Hospital and vital records were used to identify 454 malformation cases among 23,319 births; this yielded a malformation rate of 19.6 per 1000 births, a rate similar to those reported in other studies. The rates of specific malformations ascertained during the first year of life were compared with combined rates from the states of Washington, Oregon, and Idaho from the Birth Defects Monitoring Program. Among defects that would be expected to be comparably ascertained, a statistically significant elevated rate of neural tube defects was observed (1.72 per 1000 births vs. 0.99 per 1000). Rates of cleft lip were significantly lower in Benton and Franklin counties than in the Birth Defects Monitoring Program (0.59 per 1,000 vs. 1.17 per 1000). For congenital heart defects, pyloric stenosis, and Down syndrome, which are often not diagnosed in the newborn period, Birth Defects Monitoring Program data did not offer appropriate comparisons. The rates of these defects did not appear to be elevated in relation to rates found in other relevant populations. When rates of neural tube defects were compared with those in populations other than the Birth Defects Monitoring Program, the Benton and Franklin county rates were still considered to be elevated. The increased bicounty rate cannot be explained by employment of the parents at Hanford or by the impact of plant emissions on the local population

  17. Chromosomal investigations in patients with mental retardation and/or congenital malformations

    Scientific Electronic Library Online (English)

    C.B., Santos; R.T., Boy; J.M., Santos; M.P.S., Silva; M.M.G., Pimentel.

    2000-12-01

    Full Text Available Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados [...] por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18%) representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas. Abstract in english We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. [...] Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

  18. Congenital bronchopulmonary malformations: A single-center experience and a review of literature

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    Kumar Basant

    2008-01-01

    Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.

  19. Giant congenital melanocytic nevi in a patient with brain structural malformations and multiple lipomatosis.

    Science.gov (United States)

    Wieselthaler, Nicky A; van Toorn, Ronald; Wilmshurst, Jo M

    2002-04-01

    We present a 9-year-old boy diagnosed from birth with giant congenital melanocytic nevi. He had central structural brain malformations of hemimegalencephaly of the right frontotemporal lobe and left occipitoparietal lobe, choroid plexus hypertrophy, and a Dandy-Walker variant. In addition, he developed multiple lipomatoses. These lesions were cutaneous except for two at the cerebellopontine angles, which were present from birth. This patient represents a rarely documented example of two histopathologies resulting in serious complications. The diagnostic issues and histopathologic process are discussed. PMID:12088085

  20. Unusual signal intensity of congenital pulmonary airway malformation on fetal magnetic resonance imaging

    International Nuclear Information System (INIS)

    Congenital pulmonary airway malformation (CPAM) is classified into pathologically different types. These types are sometimes distinguishable by fetal lung MRI and are usually observed as higher-signal lesions on T2-weighted images than normal lung. We describe a case of unusual CPAM resembling neoplasms, with a lower signal than is found in normal lung. Histopathology showed a large number of mucogenic cells but found no evidence that could explain this feature on fetal MRI. An unusual low-signal mass associated with a pulmonary cyst in fetal lung on MRI may suggest an unusual type 1 CPAM. (orig.)

  1. Unusual signal intensity of congenital pulmonary airway malformation on fetal magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Owada, Keiho; Miyazaki, Osamu; Nosaka, Shunsuke [National Center for Child Health and Development, Department of Radiology, Tokyo (Japan); Matsuoka, Kentaro [National Center for Child Health and Development, Department of Pathology, Tokyo (Japan); Sago, Haruhiko [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)

    2015-05-01

    Congenital pulmonary airway malformation (CPAM) is classified into pathologically different types. These types are sometimes distinguishable by fetal lung MRI and are usually observed as higher-signal lesions on T2-weighted images than normal lung. We describe a case of unusual CPAM resembling neoplasms, with a lower signal than is found in normal lung. Histopathology showed a large number of mucogenic cells but found no evidence that could explain this feature on fetal MRI. An unusual low-signal mass associated with a pulmonary cyst in fetal lung on MRI may suggest an unusual type 1 CPAM. (orig.)

  2. Electroencephalography in congenital malformations of the central nervous system Electroencefalografia en las malformaciones congénitas del sistema nervioso central

    OpenAIRE

    Patrícia Campos; Guillermo Cruz; Rodolfo Lizarraga; Ernesto Bancalari; Daniel Guillen; Carlos Castañeda

    1994-01-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a ...

  3. Prevention of Fetal Congenital Malformations with Allowance for the Pharmacogenetic Features of the Metabolism of Antiepileptic Drugs and Hereditary Abnormalities in the Folate Cycle

    Directory of Open Access Journals (Sweden)

    D. V. Dmitrenko

    2014-07-01

    Full Text Available Fetal congenital malformations are among the most dangerous complications of pregnancy in women with epilepsy taking antiepileptic drugs. Valproic acid and phenobarbital have the greatest risk of teratogenic effects. Insights into the current mechanisms of teratogenic effect of antiepileptic drugs, pharmacogenetic features of the metabolism of valproates and hereditary abnormalities in the folate cycle enables prevention of fetal congenital malformations

  4. Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry

    DEFF Research Database (Denmark)

    Agergaard, Peter; Hebert, Anders; Bjerre, Jesper; Sørensen, Karina Meden; Olesen, Charlotte; Ostergaard, John Rosendal

    2011-01-01

    The present study was conducted to establish the positive predictive value of congenital cardiac malformation diagnoses registered in the Danish National Patient Registry (NPR), thereby exploring whether the NPR can serve as a valid tool for epidemiologic studies of congenital cardiac malformations.

  5. [Information should be given on consanguinity as a risk factor for congenital malformations].

    Science.gov (United States)

    Cornel, Martina C; Houwink, Elisa J F; Houwink, Pieter E F

    2014-01-01

    In the Born in Bradford study, an increased risk for congenital anomalies was found in the Pakistani subpopulation of Bradford, where cousin marriage is relatively frequent. While consanguinity may be associated with a risk for congenital malformations, it does not prove a causal relationship. Whatever the case, high perinatal mortality as well as the high prevalence of congenital anomalies are good reasons for implementing the knowledge on reproductive risks that has been available for many years. Well-known risk factors include higher maternal age, that was associated with congenital anomalies in the British mothers. Further research in an intervention study may provide more data on whether the associations found are causal. Implementing preconception care should involve primary care physicians, who need both facilities and training. In the Netherlands, the high perinatal mortality, especially in some big cities, could profit from similar interventions. Dutch primary care physicians consider it their responsibility to discuss consanguinity with patients, although there is some reluctance because of anticipated religious and social value conflicts. Without information reaching the target populations, they may lack awareness and will not ask for information themselves. People from Dutch migrant groups would prefer to be informed about reproductive risks of consanguinity by their primary care physicians. PMID:24397975

  6. Congenital Cystic Adenomatoid Malformation (CCAM of Lung in an Infant: A Case Report from Jammu & Kashmir, Northern India

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    Sudesh Singh

    2015-04-01

    Full Text Available Congenital cystic Adenomatoid malformation is a rare developmental abnormality of the lung occuring in 1-4/100000 live births.In most cases the outcome with CCAM in fetus is very good,while in some cases the outcome is very bad and can be life threatning for the fetus.we report here a case of 40 day old female infant who presented with worsening respiratory distress since birth and x ray and CT chest were suggestive of Congenital Cystic Adenomatoid malformation.

  7. Lest we forget: Early Canadian contributions to the care of children with congenital heart malformations.

    Science.gov (United States)

    Olley, P M; Johnson, A L; Beamish, R

    2001-06-01

    In a century of remarkable progress in medicine, one of the outstanding stories is the development of successful treatment of congenital heart malformations. This achievement is the outcome of the ideas and research of many people. Many of the early 'transforming' advances originated in Canada. Maude Abbott catalogued and classified heart malformations in a clinically meaningful manner. Arthur Charles and David Scott in Toronto, Ontario, produced a clinically useful heparin preparation, and the studies of Bill Bigelow led to the application of hypothermia in cardiac surgery. John Keith and Bill Mustard at Toronto's Hospital for Sick Children, and Arnold Johnson and Tony Dobell at the Montreal Children's Hospital, Montreal, Quebec, established the first Canadian programs devoted to the correction of congenital heart defects in childhood. Mustard devised the first widely successful operation for transposition of the great arteries. Flavio Coceani and Peter Olley discovered the role of prostaglandin E in the ductus arteriosus, and applied that knowledge clinically. The turn of the century is an appropriate time to celebrate these Canadian successes. PMID:11420582

  8. Endoscopic transnasal odontoidectomy to treat basilar invagination with congenital osseous malformations

    Directory of Open Access Journals (Sweden)

    YU Yong

    2012-08-01

    Full Text Available Objective To introduce the surgical techniques of image-guided endoscopic transnasal odontoidectomy to treat basilar invagination with congenital osseous malformations and describe several advantages compared to the traditional transoral procedure. Methods From September 2009 to February 2010, two cases with basilar invagination, of which the etiology was congenital osseous malformations, underwent endoscopic transnasal odontoidectomy. Case 2 also received occipitocervical fixation and bone fusion during the same surgical episode to ensure stability. The clinical symptoms of the two cases were evaluated by using the Japanese Orthopaedic Association (JOA score for the evaluation of cervical myelopathy. Results Both patients were extubated after recovery from anesthesia and allowed oral food intake the next day. Cerebrospinal fluid rhinorrhea was found in the second case and cured by continuous lumber drainage of cerebrospinal fluid. No infection was noted. The average follow?up time was more than 24 months. Remarkable neurological recovery was observed at postoperation in both patients. The JOA scores elevated from preoperative 12 and 8 to postoperative 17 and 15. Conclusion The endoscopic transnasal odontoidectomy is a more minimally invasive approach for anterior decompression of cervicomedullary with basilar invagination. The advantages over the standard transoral odontoidectomy include visualization improvement, elimination of risk of tongue swelling and teeth damaging, alleviation of prolonged intubation, reduction of need for enteral tube feeding, and less risk of affecting phonation.

  9. Malformación congénita de la vía aérea pulmonar / Congenital pulmonary airway malformation

    Scientific Electronic Library Online (English)

    JORGE ENRIQUE, GUZMÁN-VÉLEZ; MARÍA MONICA, OSSA-GALVIS.

    2014-12-01

    Full Text Available La malformación congénita de la vía aérea pulmonar, anteriormente llamada malformación adenomatoidea quística pulmonar, es una rara anormalidad en el desarrollo de las vías respiratorias terminales. Las lesiones son de distribución y tamaños variables, usualmente unilaterales. El diagnóstico puede r [...] ealizarse desde el periodo prenatal mediante ecografía gestacional, encontrándose en ocasiones, graves repercusiones fetales como hidrops fetal, el cual es el mayor predictor de muerte. En los recién nacidos la enfermedad se manifiesta con dificultad respiratoria aguda; en los niños y adultos con infecciones pulmonares recurrentes y complicaciones como absceso pulmonar, hemoptisis, neumotórax y manifestaciones extrapulmonares. En pacientes sintomáticos está indicado el tratamiento quirúrgico para prevenir infecciones y la transformación neoplásica; sin embargo, sigue siendo controversial el tratamiento profiláctico frente al tratamiento expectante en pacientes asintomáticos. Se presenta el caso de una paciente femenina de cuatro años de edad con infecciones pulmonares recurrentes; las radiografías de tórax y la tomografía pulmonar sugieren malformación adenomatoidea quística, la cual es confirmada posteriormente por estudio patológico Abstract in english Congenital pulmonary airway malformation, previously known as congenital cystic adenomatoid malformation, is a rare developmental anomaly of the terminal respiratory structures. Cysts can vary in size, distribution, and are most commonly unilateral. The diagnosis can be made prenatally using ultraso [...] und scanning; the fetal lesions can be associated with hydrops fetalis, which is the major predictor of death. In newborns, it manifests as acute respiratory distress, in children and adults, manifestations include recurrent lung infections, with complications such as lung abscess, hemoptysis, pneumothorax and extrapulmonary anomalies. Surgical treatment is indicated in symptomatic patients to prevent infections and the potential neoplastic transformation, however prophylactic surgery versus expectant treatment remains controversial in asymptomatic patients. We present a 4 year old female patient with recurrent pulmonary infections whose thoracic x-ray and pulmonary computed axial tomography suggests cystic adenomatoid malformation, subsequently confirmed by pathological study

  10. Neonatal outcome and congenital malformations in children born after ICSI with testicular or epididymal sperm : a controlled national cohort study

    DEFF Research Database (Denmark)

    Fedder, Jens; Loft, A

    2013-01-01

    Does neonatal outcome including congenital malformations in children born after ICSI with epididymal and testicular sperm [testicular sperm extraction (TESE)/percutaneous epididymal sperm aspiration (PESA)/testicular sperm aspiration (TESA) (TPT)] differ from neonatal outcome in children born after ICSI with ejaculated sperm, IVF and natural conception (NC)?

  11. Fetal Deaths and Congenital Malformations in Progenies of Iranian Chemical Victims

    Directory of Open Access Journals (Sweden)

    DD Farhud

    2011-09-01

    Full Text Available

    Background: The goal of the present study was to report the results of two parallel works in which the incidence of fetal deaths and also congenital malformations among the progenies of the Iranian chemical victims were studied.

    Methods: The subjects were progenies of a randomly selected population from survivors of chemical attacks during Iran-Iraq conflict. Totally 807 male cases ranged 18-85 years old (average=33.5 were included in the test. They were married and had been injured at lea t once with chemical warfare; all of them had been brought back to their normal voiding condition.

    Results: The selected subjects were categorized into case and control groups: children were born after and before their parents being injured chemically, respectively. The incidence of fetal deaths and congenital malformations in these two groups were significantly different (P < 0.05.

    Conclusion: Parental exposure to chemical weapons may be associated with an increased risk for some congenital malformations.

  12. Congenital malformations and damage in early infancy of the central nervous system; Fehlbildungen und fruehkindliche Schaedigungen des ZNS

    Energy Technology Data Exchange (ETDEWEB)

    Jansen, O. [Universitaetsklinikum Schleswig-Holstein, Kiel (Germany). Sektion Neuroradiologi; Stephani, U. (eds.) [Universitaetsklinikum Schleswig-Holstein, Kiel (Germany). Universitaetskinderklinik - Klinik fuer Neuropaediatrie

    2007-07-01

    Congenital malformations and cerebral damage in early infancy cause complex morphological and clinical changes. Modern imaging techniques, and especially NMR, have provided deeper knowledge of these diseases in the past few years. Based on the neuroradiological findings, the book presents a complete picture of congenital malformations of the central nervous systems and cerebral damage in early infancy; it describes the underlying pathomechanisms, clinical symptoms and therapies. Neurologists and neuropaediatricians are enabled to diagnose malformations correctly and to develop optimal therapy strategies in cooperation with other medical disciplines. Neuroradiologists and radiologists, on the other hand, will find a manual for correct interpretation and differential diagnosis of their findings and a guide for interpreting the findings and deciding further therapeutic or diagnostic interventions. (orig.)

  13. Anesthesia experience in a child affected by congenital cystic adenomatoid malformation and retinopathy of prematurity for eye laser procedure--a case report.

    Science.gov (United States)

    Takrouri, Mohamad Said Maani; Maghaireh, Abdulbaset; Obeidat, Mohammed Rushdi

    2011-02-01

    Congenital Cystic Adenomatoid Malformation or bronchopulmonary displasia (congenital lung cysts disease) is a rare condition. Intrauterine death affect severe cases, those infants surviving till birth lead a chronic course of respiratory illness amenable to corrective thoracic surgery or other corrective measures for non pulmonary conditions. This report describes an experience with one girl that needed anesthesia for congenital retinopathy's laser treatment. PMID:21991743

  14. Alcohol, tabaco y malformaciones congénitas labioalveolopalatinas / Alcohol, tobacco and congenital alveolar cleft palate malformations

    Scientific Electronic Library Online (English)

    Grethel, Cisneros Domínguez; Ana Ibis, Bosch Núñez.

    2014-09-01

    Full Text Available Actualmente, las drogas como el alcohol y el tabaco constituyen un grave problema de salud,pues además de ocasionar trastornos psicológicos, están relacionadas con lesiones orgánicas que, en muchos casos, llegan a ser irreversibles. Se realizó esta comunicación breve para mostrar las principales mal [...] formaciones congénitas, entre ellas las fisuras labiopalatinas, provocadas por el uso de estas drogas durante la etapa de gestación Abstract in english Currently, drugs such as alcohol and tobacco constitute a serious health problem, because besides causing psychological dysfunctions, they are related to organic lesions which, in many cases, become irreversible. A brief communication was carried out to show the main congenital malformations, among [...] them cleft lip and palate, caused by the use of these drugs during pregnancy

  15. Prenatal diagnostics of congenital malformations, the most efficient way to decrease genetic consequences of Chernobyl accident

    International Nuclear Information System (INIS)

    Long-term study of the prevalence of congenital malformations (CM) in the population of Belarus, carried out by Belarus Institute for Hereditary Diseases, showed considerably increased, from 5.6% in 1980-1985 to 7.2% in 1986-1996, frequency of the anomalies found in embryos, increased number of malformations in induced abortuses and also the growth of CM in newborns, from 5 in 1983-1985 to 7.2 in 2001, in post-Chernobyl period. The highest raise was registered in the mostly contaminated with Cs-137 areas in the first post-Chernobyl years. There are various reasons for the observed increase, but they are still not clearly understood. Nutrition imbalance (deficit of vitamins, essential amino acids and soluble selenium), physoemotional stress, hormone imbalance, alcoholism and increased level of mutations due to additional exposure of the gonads of the residents of contaminated areas of the Republic can have some impact. Positive prevalence trend of multifactorial anomalies evidences multifactorial origin of the increased prevalence of embryonal anomalies. Both, increased prevalence of CM with great contribution of dominant mutations and the peak of Down's syndrome cases, recorded in January, 1987 with maximum in Gomel region, suggest mutation component. At present, the most efficient measures to prevent the birth of malformed children are prenatal diagnostics and vitamin supplement of the couples, who plan their pregnancy, and pregnant women in the first trimester. According to the conclusion, made by WHO experts, vitamin intake can considerably reduce many CM with multifactorial origin. Positive results can be achieved only if the problem is solved by the government, when vitamins are added to flour, cereals and bread. Prenatal diagnostics with subsequent termination of pregnancy, where incurable anomalies are found, contributes greatly to the reduction of the proportion of malformed newborns, irrespective of the factors, which caused the anomalies. Thus, in Belarus in the last 5 years about 500 pregnancies were terminated annually for genetic reasons. Over 100 pregnancies were terminated in Gomel region, which considerably reduced (by 1-3%) perinatal mortality, children's morbidity and disability. The number of children, born with the anomalies of the central nervous system, renal polycystosis and agenesis, omphalocele, reduction limb defects, is decreasing most considerably. The potentialities of prenatal diagnostics of CM are far from being used adequately in the Republic. With sufficient financing, present-day techniques allow prenatal diagnosing of 1000 cases instead of 600 diagnosed each year. The program will be productive, if prenatal biochemical screening and invasive prenatal procedures are financed regularly and interregional centres for prenatal diagnostics are created. These measures will not only reduce the proportion of children, born with congenital malformations, but increase the birth rate in Belarus, since the future mothers will not be scared to give birth to a malformed child, which is especially essential for the population exposed to radiation due to Chernobyl accident (authors)

  16. Prematurity, asphyxia and congenital malformations underrepresented among neonates in a tertiary pediatric hospital in Vietnam

    Directory of Open Access Journals (Sweden)

    Kruse Alexandra Y

    2012-12-01

    Full Text Available Abstract Background Estimated 17,000 neonates (? 28 days of age die in Vietnam annually, corresponding to more than half of the child mortality burden. However, current knowledge about these neonates is limited. Prematurity, asphyxia and congenital malformations are major causes of death in neonates worldwide. To improve survival and long term development, these vulnerable neonates need access to the specialized neonatal care existing, although limited, in lower middle-income countries like Vietnam. The aim of this study was to describe these conditions in a specialized Vietnamese hospital, compared to a Danish hospital. Methods We performed a comparative observational study of all neonates admitted to a tertiary pediatric hospital in South Vietnam in 2009–2010. The data were prospectively extracted from the central hospital registry and included basic patient characteristics and diagnoses (International Classification of Diseases, 10th revision. Prematurity, asphyxia and designated congenital malformations (oesophageal atresia, gastroschisis, omphalocoele, diaphragmatic hernia and heart disease were investigated. In a subgroup, the prematurity diagnosis was validated using a questionnaire. The hospitalization ratio of each diagnosis was compared to those obtained from a Danish tertiary hospital. The Danish data were retrieved from the neonatal department database for a ten-year period. Results The study included 5763 neonates (missing Conclusion Our findings suggest the investigated diagnoses were underrepresented in the Vietnamese study hospital. In contrast, relatively mild diagnoses were frequent. These results indicate the use of specialized care may not be optimal. Pre-hospital selection mechanisms were not investigated and additional studies are needed to optimise utilisation of specialized care and improve neonatal survival.

  17. Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

    Directory of Open Access Journals (Sweden)

    Fabricio González-Andrade

    2010-04-01

    Full Text Available Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class.Methods: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry.Results: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9% and 7053 were female (42.1%. BPR in males was 40.45 and in females 30.40.Conclusion: This report documents the prevalence estimates for birth defects reported in the hospital discharge data. These estimates are important to 1 plan for health-care and education needs of the Ecuadorian population, 2 identify increased occurrences of birth defects in specific geographic regions, 3 serve as a reference point for assessment of provincial surveillance systems, 4 evaluate national public health interventions, 5 compare Ecuador prevalence estimates with those of other countries, and 6 help determine the appropriate allocation of resources for basic and public health research. There is an urgent need to establish a National Registry of Birth Defects involving different sources of information such as prenatal medical records, birth records and medical records during the first year of life at an early stage, and surveys on cytogenetic prenatal diagnostic surveys and cytogenetics of therapeutic abortions.Keywords: Ecuador, genetics, birth defects surveillance, database, prevalence, epidemiology, congenital malformations

  18. La edad paterna como factor de riesgo para malformaciones congénitas Paternal age as a risk factor for congenital malformations

    Directory of Open Access Journals (Sweden)

    Julio Nazer H

    2008-02-01

    Full Text Available The role of advanced maternal age as a risk factor for congenital malformations in offspring is known. However, the influence of paternal age is not clear. Aim: To evaluate the association between advanced paternal age and the risk for congenital malformations. Patients and Methods: Analysis of maternal and paternal age of cases (malformed newborns and controls from ECLAMC Database (Latin American Collaborative Study of Congenital Malformations registered at the University of Chile Clinical Hospital during the decade from Jan 1 1997 to Dec 31 2006. Newborns and stillborns were grouped according to maternal age into 6 intervals. In each interval, paternal ages of cases and controls were compared. The inverse procedure was performed to assess maternal age effect. Other variables as gestational age and birth weight were analyzed for the intervals of maternal and paternal ages. Results: No significant differences were observed in paternal age between cases and controls in any of the intervals of maternal age. However, mean maternal age was higher for cases than for controls (p =0,0149. Gestational age and birth weight depend more on being case or control than on the age of parents. Conclusions: No differences in paternal age were observed between cases and controls in this series of newborns

  19. La edad paterna como factor de riesgo para malformaciones congénitas / Paternal age as a risk factor for congenital malformations

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Lucía, Cifuentes O; Francisca, Millán Z; Paola, Vacarisas A; Stephanie, Köbrich Sch; Alfredo, Aguila R.

    2008-02-01

    Full Text Available [...] Abstract in english The role of advanced maternal age as a risk factor for congenital malformations in offspring is known. However, the influence of paternal age is not clear. Aim: To evaluate the association between advanced paternal age and the risk for congenital malformations. Patients and Methods: Analysis of mate [...] rnal and paternal age of cases (malformed newborns) and controls from ECLAMC Database (Latin American Collaborative Study of Congenital Malformations) registered at the University of Chile Clinical Hospital during the decade from Jan 1 1997 to Dec 31 2006. Newborns and stillborns were grouped according to maternal age into 6 intervals. In each interval, paternal ages of cases and controls were compared. The inverse procedure was performed to assess maternal age effect. Other variables as gestational age and birth weight were analyzed for the intervals of maternal and paternal ages. Results: No significant differences were observed in paternal age between cases and controls in any of the intervals of maternal age. However, mean maternal age was higher for cases than for controls (p =0,0149). Gestational age and birth weight depend more on being case or control than on the age of parents. Conclusions: No differences in paternal age were observed between cases and controls in this series of newborns

  20. Trimethoprim Use prior to Pregnancy and the Risk of Congenital Malformation : A Register-Based Nationwide Cohort Study

    DEFF Research Database (Denmark)

    Andersen, Jon Trærup; Petersen, Morten

    2013-01-01

    Objectives. The aim of the study was to investigate whether the use of the antifolate antibiotic trimethoprim during the 12 weeks before conception was associated with congenital malformations. Methods. We conducted a nationwide register-based cohort study including all Danish women giving birth from 1997 to 2004. All women with at least one prescription of trimethoprim dispensed during the 12 weeks before conception were identified. Results. There was a doubling of congenital malformations in offspring to women exposed to trimethoprim in the 12 weeks before conception. The adjusted odds ratio (OR) of major congenital malformation was 1.87, 95% confidence interval (CI) 1.25-2.81. There was a significant increase in major malformations of the heart (OR = 2.49; 1.18-5.26) and limbs (OR = 2.18; 1.13-4.23). Conclusions. In this study, we found an association between exposure to trimethoprim during the 12 weeks before conception and an increased risk of heart and limb defects.

  1. Presentación de un caso con múltiples malformaciones congénitas: asociación VACTERL. A case with multiple congenital malformations: VACTERL association.

    Directory of Open Access Journals (Sweden)

    Silvia Cristina Martínez Rueda, MD*

    2011-01-01

    Full Text Available La asociación VACTERL es un conjunto de malformaciones congénitas que ocurre en varias combinaciones, entre las cuales encontramos: malformaciones Vertebrales, atresia Anal, anomalías Cardiovasculares, fistula Traqueo esofágica, atresia Esofágica, malformaciones Renales y displasia de las extremidades (Limb, fundamentalmente en el hueso radial. Para su diagnóstico se requiere la presencia de, al menos, tres de los siete criterios enumerados y se realiza por medio de ecografía a partir de la semana 18 de gestación. Aun no se ha reconocido etiología específica para esta patología; se cree que es producto de una influencia teratogénica entre la cuarta y octava semana de gestación. El pronóstico de estos pacientes es muy pobre, ya que fallece el 50-85% de los niños en el primer año de vida, sobreviviendo después del primer año de vida solo un 12-15%. [Presentación de un caso con múltiples malformaciones congénitas: asociación VACTERL. MedUNAB 2011; 14:132-137]. ______________________________________________________________________VACTERL association is a group of birth defects occurring in various combinations, among which are: vertebral anomalies, anal atresia, cardiac defects, tracheo-oesophageal fistula with esophageal atresia, renal defects and limb dysplasia, mainly in the radial bone. To diagnostic is necessary at least three of the seven criteria listed and is performed by ultrasound after 18 weeks of gestation. Although no specific etiology has been recognized for this condition, is believed to be the result of undefined teratogenic influence acting between the fourth and eighth weeks of gestation. Prognosis for these patients is very poor, and who died on 50-85% of children in the first year and surviving after the first year of life only 12-15%. [Martínez S, Rincón L, Rueda F. A case with multiple congenital malformations: VACTERL association. MedUNAB 2011; 14:132-137

  2. Malformaciones Congénitas: Aspectos Generales y Genéticos / Congenital Malformations: General and Genetic Aspects

    Scientific Electronic Library Online (English)

    Mariana, Rojas; Laura, Walker.

    2012-12-01

    Full Text Available Los defectos del desarrollo se pueden deber a malformaciones congénitas, deformaciones o disrupciones. El 10% de las malformaciones se atribuyen a causas ambientales el 25% a factores genéticos y el 65% a factores desconocidos probablemente de orden multifactorial. Existe un período de mayor suscept [...] ibilidad frente a los teratógenos que corresponde a la etapa donde se están formando la mayoría de los órganos y sistemas. La ingestión de plantas teratogénicas puede dar lugar a anomalías congénitas en los fetos de animales. Los pesticidas como DDT, la contaminación de las aguas por mercurio y los disruptores endocrinos afectan la embriogénesis de las distintas especies del reino animal. También se consideran como factores causantes de malformaciones a los agentes ambientales infecciosos y a algunos medicamentos. Los agentes físicos como los aumentos de temperatura, las condiciones de hipoxia y las radiaciones afectan a distintos organismos, desde los peces al ser humano. La genética de las malformaciones ha sido difícil de establecer, principalmente porque la mayor parte de ellas se caracteriza por presentar manifestaciones fenotípicas diversas, que en muchos casos aparentemente no están relacionadas y que son variables para los individuos afectados. Por otra parte, los estudios realizados indican que frecuentemente, en la determinación genética de las malformaciones participan varios genes y las interacciones de éstos con el ambiente, aunque determinaciones monogénicas se han podido establecer para unos pocos casos. Ilustramos aquí estos dos tipos contrastantes de determinación genética, a través de la descripción de los factores genéticos que estarían involucrados en los defectos del tubo neural y en el síndrome de CHARGE, respectivamente. Abstract in english Developmental defects may be due to congenital malformations, deformations or disruptions; 10% of malformations are caused by environmental factors, 25% by genetics factors and 65% are due to unknown multifactorial problems. There is a developmental period of greater susceptibility to teratogens, wh [...] ich corresponds to the stages when most organs and systems are being formed. Ingestions of teratogenics plants may result in congenital anomalies in animal foetuses. Pesticide such as DDT, water contamination with the Hg and the endocrine disrupters affect embryogenesis of different animal species. As factors that provoke malformations there are environmental agents, infections and some drugs. Physical agents such as increased temperature, hypoxic conditions and radiation, affect different organisms from fishes to human. Genetic of malformations have been difficult to establish, mainly because most of them are characterized by diverse phenotypic aspects, apparently not related and variable for the different affected organisms. On the other hand, studies realized indicate that frequently in the genetic determination of malformations several genes and their interactions with the environment are involved, although it has been possible to establish monogenic determination for a few cases. Here we contrast these two types of genetic determination, describing the genetic factors involved in the neural tube defects and the CHARGE syndrome, respectively.

  3. Malformaciones Congénitas: Aspectos Generales y Genéticos Congenital Malformations: General and Genetic Aspects

    Directory of Open Access Journals (Sweden)

    Mariana Rojas

    2012-12-01

    Full Text Available Los defectos del desarrollo se pueden deber a malformaciones congénitas, deformaciones o disrupciones. El 10% de las malformaciones se atribuyen a causas ambientales el 25% a factores genéticos y el 65% a factores desconocidos probablemente de orden multifactorial. Existe un período de mayor susceptibilidad frente a los teratógenos que corresponde a la etapa donde se están formando la mayoría de los órganos y sistemas. La ingestión de plantas teratogénicas puede dar lugar a anomalías congénitas en los fetos de animales. Los pesticidas como DDT, la contaminación de las aguas por mercurio y los disruptores endocrinos afectan la embriogénesis de las distintas especies del reino animal. También se consideran como factores causantes de malformaciones a los agentes ambientales infecciosos y a algunos medicamentos. Los agentes físicos como los aumentos de temperatura, las condiciones de hipoxia y las radiaciones afectan a distintos organismos, desde los peces al ser humano. La genética de las malformaciones ha sido difícil de establecer, principalmente porque la mayor parte de ellas se caracteriza por presentar manifestaciones fenotípicas diversas, que en muchos casos aparentemente no están relacionadas y que son variables para los individuos afectados. Por otra parte, los estudios realizados indican que frecuentemente, en la determinación genética de las malformaciones participan varios genes y las interacciones de éstos con el ambiente, aunque determinaciones monogénicas se han podido establecer para unos pocos casos. Ilustramos aquí estos dos tipos contrastantes de determinación genética, a través de la descripción de los factores genéticos que estarían involucrados en los defectos del tubo neural y en el síndrome de CHARGE, respectivamente.Developmental defects may be due to congenital malformations, deformations or disruptions; 10% of malformations are caused by environmental factors, 25% by genetics factors and 65% are due to unknown multifactorial problems. There is a developmental period of greater susceptibility to teratogens, which corresponds to the stages when most organs and systems are being formed. Ingestions of teratogenics plants may result in congenital anomalies in animal foetuses. Pesticide such as DDT, water contamination with the Hg and the endocrine disrupters affect embryogenesis of different animal species. As factors that provoke malformations there are environmental agents, infections and some drugs. Physical agents such as increased temperature, hypoxic conditions and radiation, affect different organisms from fishes to human. Genetic of malformations have been difficult to establish, mainly because most of them are characterized by diverse phenotypic aspects, apparently not related and variable for the different affected organisms. On the other hand, studies realized indicate that frequently in the genetic determination of malformations several genes and their interactions with the environment are involved, although it has been possible to establish monogenic determination for a few cases. Here we contrast these two types of genetic determination, describing the genetic factors involved in the neural tube defects and the CHARGE syndrome, respectively.

  4. Lumbo-Costo-Vertebral Syndrome with Congenital Lumbar Hernia

    Directory of Open Access Journals (Sweden)

    Lucky Gupta

    2014-02-01

    Full Text Available Lumbo-costo-vertebral syndrome (LCVS is a set of rare abnormalities involving vertebral bodies, ribs, and abdominal wall. We present a case of LCVS in a 2-year-old girl who had a progressive swelling over left lumbar area noted for the last 12 months. Clinical examination revealed a reducible swelling with positive cough impulse. Ultrasonography showed a defect containing bowel loops in the left lumbar region. Chest x-ray showed scoliosis and hemivertebrae with absent lower ribs on left side. Meshplasty was done.

  5. Detection of Factor XI Deficiency (FXID and Complex Vertebral Malformation (CVM in Bali Cattle

    Directory of Open Access Journals (Sweden)

    S. W. Siswanti

    2014-12-01

    Full Text Available Factor XI Deficiency (FXID is caused by imperfect insertion of poly adenine which is resulted in introduction of premature stop codon in FXI gene. Substitution of guanine into thymine in SLC35A3 gene caused Complex Vertebral Malformation (CVM. The research was aimed to detect the presence or absence of a genetic defect mainly CVM using SLC35A3 gene and FXID using FXI gene in Indonesian Bali cattle. The presence of this genetic defect may have a significant economic impact on the breeding program. The research of genetic defect was done mostly in dairy cattle, but there was no report for screening of genetic defect in Bali cattle. In this study, 303 fresh blood samples and 22 semen samples which were collected from Indonesian Bali cattle breeding center (BPTU HMT Denpasar, BPT HMT Serading West Nusa Tenggara and district Barru South Sulawesi and artificial insemination centre (BBIB Singosari and BIBD Baturiti were used for screening of FXID and CVM. The amplicons of FXI gene were obtained by using PCR and that for SLC35A3 gene were obtained by using PCR-RFLP method with PstI restriction enzyme. These PCR products were analyzed by using 2% agarose gels electrophoresis. All genotypes were confirmed by DNA sequencing to determine an allele mutant. The allele mutant was not found in all of the samples. The result of this study showed that CVM and FXID were not detected in Bali cattle from Indonesian Bali cattle breeding and artificial insemination centres.

  6. Vertebral Hemangiolymphangioma Mimics Bone Metastases on 99mTc-MDP SPECT/CT.

    Science.gov (United States)

    Zhang, Yiqiu; Li, Beilei; Shi, Hongcheng; Cai, Liang; Hou, Jun

    2016-01-01

    Hemangiolymphangioma is a very rare, congenital malformation of both lymphatic and blood vessels. In the present study, we report a case of vertebral hemangiolymphangioma that was misdiagnosed as bone metastasis on Tc-MDP SPECT/CT. PMID:26359559

  7. Cancer Risks in Parents Who had a Child with a Congenital Malformation

    DEFF Research Database (Denmark)

    Sun, Yuelian; Overvad, Kim

    2013-01-01

    Cancer risk in parents may be related to congenital malformations (CMs) in their children if they share genetic susceptibility or environmental exposure that may be teratogenic and carcinogenic. We conducted a population-based cohort study based on Danish register data. We identified 795,607 mothers and 781,424 fathers who had all their children between 1977 and 2007 in Denmark. Information on CM was obtained from the Danish Hospital Registry and information on cancer was obtained from the Danish Cancer Registry. Parents were followed from the birth of their first child until the diagnosis of cancer, death, emigration, or December 31, 2007. We used Cox regression models to estimate hazard ratios (HRs) for cancer including cancer in specific organs in mothers and fathers. Overall, 75,701 (9.5%) mothers and 72,724 (9.3%) fathers had at least one child diagnosed with CMs within the first year of life. Neither mothers (HR = 1.04; 95% CI: 0.99-1.04) nor fathers (HR = 1.03; 95% CI: 0.98-1.09) who had a child with aCM had a higher overall risk of cancer. Mothers (HR = 0.76, 95% CI: 0.58-1.00) or fathers (HR = 0.89, 95% CI: 0.66-1.19) who had a child with a chromosomal malformation had a lower overall cancer risk. The findings also showed a higher risk for some specific types of cancer in parents who had children with a CM in the specific system. Some, or perhaps all, of these findings may be due to chance caused by multiple comparisons. We present all results on paper or online to provide clues for further research and to avoid publication bias.

  8. A prospective study of congenital malformations among live born neonates at a University Hospital in Western Saudi Arabia

    International Nuclear Information System (INIS)

    Objective was to estimate the incidence of major and minor congenital malformations among live born infants at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Estimation of risk factors was also evaluated. Between March 2004 and May 2005, a total of 5356 babies born at King Abdulaziz University Hospital, were enrolled in this study for malformations. Details of cases were recorded after parent's interviews, clinical, radiological and laboratory evaluations. One hundred and forty-seven (27.06/1000 livebirth) and 13 (2.39/1000 birth) stillbirth have congenital anomalies. In all livebirth, incidences of major anomalies were 93.9% and minor were 6.1%. Mothers of 95.9% with congenital malformation were healthy, 3.4% were diabetic and 0.7% had cardiac malformation. In 38.8% of cases parents were consanguineous. Among the liveborn births, the most common system involved was cardiovascular (7.1/1000), followed by musculoskeletal/limb (4.1/1000), external genitilia (2.8/1000), urinary (2.6/1000),multiple chromosomal (2.2/1000), orofacial (1.9/1000), central nervous system (1.9/1000), skin (1.7/1000), multiple single gene (1.3/1000), multiple sequence (0.75/1000), eyes (0.56/1000), unclassified (0.19/1000), musculoskeletal/abdominal (0.19/1000), endocrine (0.19/1000). High incidence of major malformation was found in Jeddah. Importance of Genetic Counseling is revealed in our study since more than three quarters of mothers were under 36 years and may well plan future pregnancies. (author)

  9. Use of selective serotonin-reuptake inhibitors during early pregnancy and risk of congenital malformations: updated analysis

    OpenAIRE

    Jette B Kornum; Nielsen, Rikke B; Lars Pedersen; et. al.

    2010-01-01

    Jette B Kornum1, Rikke B Nielsen1, Lars Pedersen1, Preben B Mortensen2, Mette Nørgaard11Department of Clinical Epidemiology, Aarhus University Hospital, Denmark; 2National Center for Registry-based Research, University of Aarhus, Aarhus, DenmarkBackground: Data on the safety of selective serotonin-reuptake inhibitors (SSRIs) in pregnancy are inconsistent. We examined associations between SSRI use during early pregnancy and risk of congenital malformations in infants.Methods: Set in...

  10. Congenital malformation of fetus in a pregnancy following spontaneous ovulation in a case of premature ovarian failure

    OpenAIRE

    Selvaraj Priya; Selvaraj Kamala; Agrawal Megha; Singh Gunjan

    2010-01-01

    Premature ovarian failure (POF), that is, amenorrhea before 40 years of age can be attributed to a variety of etiologies. Approximately 1% of women before 30 years are diagnosed with POF. Spontaneous ovulation leading to pregnancy in POF is even a rarer entity. We report a case where congenital malformations were diagnosed in a fetus following spontaneous ovulation in a case of POF. A 33-year-old woman presented to our center with primary infertility. On complete work up, she was diagn...

  11. Cancer risks in children with congenital malformations in the nervous and circulatory system-A population based cohort study

    DEFF Research Database (Denmark)

    Sun, Yuelian; Overvad, Kim; Olsen, Jørn

    2014-01-01

    AIM: We estimated the age and organ-specific cancer risk for children with a congenital malformation (CM) in the nervous or in the circulatory system. METHODS: We identified 1,709,456 live born singletons in Denmark between 1 January 1977 and 31 December 2007 and excluded children with chromosomal birth defects. Information on CMs was obtained from the Danish National Hospital Register. Information on cancer occurrence was obtained from the Danish Cancer Registry. We applied Cox proportional haz...

  12. First-Trimester Pregnancy Exposure to Venlafaxine or Duloxetine and Risk of Major Congenital Malformations : A Systematic Review

    DEFF Research Database (Denmark)

    Lassen, Dorte; Ennis, Zandra Nymand

    2015-01-01

    Major depressive disorder is common among women in child-bearing age, and medical treatment is subject to substantial discussions and controversies. For Selective Serotonin reuptake inhibitors, SSRIs, a vast amount of data are available. For the newer antidepressant group of serotonin and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformations after first trimester in utero exposure to venlafaxine or duloxetine. We identified eight cohort studies reporting on the outcome upon in utero exposure to venlafaxine or duloxetine during the first trimester. The cumulated data for venlafaxine were 3186 exposed infants and 107 major malformations, resulting in a relative risk estimate and 95% confidence interval of 1.12 (0.92-1.35). The corresponding data for duloxetine were 668 infants and 16 major malformations, resulting in a relative risk estimate and 95% confidence interval of 0.80 (0.46-1.29). First-trimester in utero exposure to venlafaxine is not associated with an increased risk of major congenital malformations. The amount of data for duloxetine are significantly smaller but does not suggest a clinically important increased risk.

  13. Malformações congênitas em ruminantes no semiárido do Nordeste Brasileiro / Congenital malformations in ruminants in the semiarid of the Brazilian Northeast

    Scientific Electronic Library Online (English)

    Antônio Flávio M, Dantas; Franklin, Riet-Correa; Rosane M.T, Medeiros; Glauco José N. de, Galiza; Luciano da A, Pimentel; Bruno L. dos, Anjos; Rinaldo A, Mota.

    2010-10-01

    Full Text Available Malformações congênitas causadas pela ingestão de Mimosa tenuiflora têm sido observadas em ruminantes no semiárido do Nordeste Brasileiro. Neste trabalho foram estudadas as malformações congênitas em ruminantes diagnosticadas entre 2000 e 2008, em municípios da Paraíba, Pernambuco e Rio Grande do No [...] rte. Durante o período foram recebidos 1.347 materiais de ruminantes para diagnóstico, desses 47 (3,48%) foram dignosticados como malformações congênitas. Com base no tipo de malformação e na procedência do animal as malformações foram divididas em: 1) causadas pelo consumo de M. tenuiflora; e 2) malformações esporádicas, sem causa conhecida. De 418 materiais de ovinos, 21 corresponderam a malformações, sendo 18 (4,3% do total de materiais) de malformações causadas por M. tenuiflora e 3 (0,71%) de malformações esporádicas. De 434 materiais de bovinos, 14 foram diagnosticados como malformações, sendo 8 (1,84%) causadas por M. tenuiflora e 6 (1,38%) malformações esporádicas. De 495 materiais de caprinos, 12 apresentaram malformações, sendo 9 (1,81%) causadas pela ingestão de M. tenuiflora e 3 (0,6%) malformações esporádicas. As principais malformações causadas por M. tenuiflora foram artrogripose, micrognatia, palatosquise, microftalmia e hipoplasia ou aplasia unilateral ou bilateral dos ossos incisivos. As malformações esporádicas incluiram: acefalia e hermafroditismo, dicefalia e malformações de vasos intestinais em ovinos; atresia anal em três caprinos; e hidranencefalia, atresia anal, malformações de costelas com eventração, hipoplasia cerebelar e hidrocefalia, coristoma pulmonar e meningocele, e gêmeos siameses em bovinos. O caso de hipoplasia cerebelar com hidrocefalia foi negativo pela imuno-histoquímica para o vírus da diarreia viral bovina. Malformações congênitas causadas por M. tenuiflora ocorreram durante todo o ano. A maior frequência em ovinos está aparentemente associada ao consumo da planta, na primeira fase da gestação, após as primeiras chuvas, quando as ovelhas estão sendo suplementadas e a planta é o principal volumoso disponível. As malformações ocorrem principalmente nas áreas mais degradadas, onde existe maior disponibilidade da planta e menor variedade de plantas da caatinga. Abstract in english Congenital malformations caused by the ingestion of Mimosa tenuiflora have been reported in ruminants in the semiarid of the Brazilian Northeast. This paper reports malformations diagnosed in ruminants, from 2000 to 2008, by the Veterinary Pathology Laboratory of the Federal University of Campina Gr [...] ande, Patos, PB, in municipalities of the states of Paraíba, Pernambuco and Rio Grande do Norte. During the period, 47 (3.48%) out of 1.347 ascensions were reported as malformations. Based in the type of malformation and in the origin of the animals, malformations were divided in: 1) caused by the ingestion of M. tenuiflora, and 2) sporadic malformations of unknown causes. In sheep, 21 out of 418 ascensions were malformations, being 18 (4.3%) of malformations caused by M. tenuiflora and 3 (0.71%) of sporadic malformations. In cattle, 14 out of 434 ascensions were malformations, from these 8 (1.84%) were caused by M. tenuiflora and 6 (1.38%) were sporadic malformations. In goats, 12 out of 495 ascensions were malformations, being 9 (1.81%) malformations related with the ingestion of M. tenuiflora and 3 (0.6%) sporadic malformations. More frequent malformations caused by M. tenuiflora were arthrogryposis, micrognatia, palatoschisis, microphtalmia and unilateral or bilateral hypoplasia or aplasia of the incisive bones. Sporadic malformations were acephaly and hermaphrodite, dicephaly and malformations of mesenteric vessel in sheep; atresia ani in three goats; and hydranencephaly, atresia ani, ribs malformation with eventracion, cerebellar hypoplasia with hydrocephalus, pulmonary choristoma and meningocele, and siamese twins in cattle. A case of cerebellar hypoplasia with hydrocephalus was negative on immunohistochemist

  14. Espectro óculo-aurículo-vertebral em pacientes com defeitos cardíacos congênitos / Oculo-auriculo-vertebral spectrum in patients with congenital heart defects / Espectro óculo-aurículo-vertebral en pacientes con defectos cardíacos congénitos

    Scientific Electronic Library Online (English)

    Rafael Fabiano Machado, Rosa; Paulo Ricardo Gazzola, Zen; José Antônio Monteiro, Flores; Eliete, Golendziner; Carlo Benatti, Pilla; Tatiana, Roman; Marileila, Varella-Garcia; Giorgio Adriano, Paskulin.

    2010-10-01

    Full Text Available FUNDAMENTO: Há poucos estudos avaliando a frequência do espectro óculo-aurículo-vertebral (EOAV) nos pacientes com defeitos cardíacos congênitos (DCC). OBJETIVO: Verificar a frequência do EOAV em uma amostra de pacientes com malformações cardíacas graves. MÉTODOS: Avaliamos uma coorte prospectiva de [...] pacientes com DCC, admitidos em uma unidade de terapia intensiva (UTI) cardiopediátrica no Brasil. O diagnóstico de EOAV foi feito com base em dados clínicos, considerando critérios padrões. Os pacientes que preenchiam esses critérios foram submetidos ao cariótipo de alta resolução com bandamento GTG e hibridização fluorescente in situ para a microdeleção 22q11.2. O teste exato de Fisher (P Abstract in spanish FUNDAMENTO: Hay pocos estudios evaluando la frecuencia del espectro óculo-aurículo-vertebral (EOAV) en los pacientes con defectos cardíacos congénitos (DCC). OBJETIVO: Verificar la frecuencia del EOAV en una muestra de pacientes con malformaciones cardíacas graves. MÉTODOS: Evaluamos una cohorte pro [...] spectiva de pacientes con DCC, admitidos en una unidad de terapia intensiva (UTI) cardiopediátrica en el Brasil. El diagnóstico de EOAV fue hecho con base en datos clínicos, considerando criterios estándares. Los pacientes que llenaban esos criterios fueron sometidos al cariotipo con bandeamiento GTG en alta resolución e Hibridización fluorescente in situ para la microdelección 22q11.2. El Test Exacto de Fisher (P Abstract in english BACKGROUND: There have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs). OBJECTIVE: To verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS: We evaluated a prospective cohort [...] of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The diagnosis of OAVS was made based on the clinical data, considering standard criteria. The patients that met these criteria were submitted to high resolution GTG-Banding karyotype and fluorescence in situ hybridization for 22q11.2 microdeletion. Fisher's exact test (P

  15. A prospective study on congenital malformations in the high background radiation areas of Kerala

    International Nuclear Information System (INIS)

    Hospital based epidemiological study on congenital anomalies carried out in the high level natural radiation (HLNR) areas of southern Kerala since 1995 to assess the hereditary effects, if any, of HLNR is reported here. Thorium, Uranium to a limited extent, and corresponding decay products in the natural deposits of monazite sand is the source of radiation. HLNR and normal level natural radiation (NLNR) areas are interwoven due to the patchy and non-uniform distribution of monazite in the region. Areas with a mean dose of more than 1.5 mGy/year were treated as HLNR areas and those with 1.5 mGy/year or less, as NLNR. High population density, limited migration, ethnic diversity, good literacy, health awareness, institutionalized births and acceptance of small family norm are some of the key features of the population. The comparison of individual malformation in HLNR and NLNR areas are presented and efforts are on to accrue sufficient sample size to enable the comparison

  16. Congenital malformations of the supratentorial brain. Pt. 2. Disorders of the corpus callosum and holoprosencephalies

    International Nuclear Information System (INIS)

    The corpus callosum is formed between the 7th and the 20th gestational week. If this process is disrupted, partial or complete callosal agenesis may ensue. As large parts of the supra- and infratentorial brain are created druing this critical period, associated anomalies need always to be searched for when callosal agenesis is present. Associations with neuro-genetic syndromes also exist. The corpus callosum is generally formed from front to back (''front-to-back rule''). Therefore, a partial callosal agenesis usually involves the posterior portion of the corpus callosum, while a secondary lesion of the corpus callosum does not follow this rule. Holoprosencephalies are a notable exception to this rule, as the frontal part of the corpus callosum is absent in spite of their classification as congenital malformations. They represent a disturbance of the differentiation and cleavage of the prosencephalon with a disruption of the separation of the cerebral hemispheres. Holoprosencephalies can be due to genetic causes, but also to intrauterine infections or other teratogenic causes. The holoprosencephalies are subdivided into alobar, semilobar and lobar holoprosencephalies. This article aims to describe the most important features of callosal agenesis and holoprosencephalies highlighting the respective imaging characteristics. (orig.)

  17. Congenital malformations, stillbirths, and early mortality among the children of atomic bomb survivors: A reanalysis

    International Nuclear Information System (INIS)

    Of all the data sets pertinent to the estimation of the genetic risks to humans following exposure to ionizing radiation, potentially the most informative is that composed of the cohort of children born to atomic bomb survivors. We present here an analysis of the relationship between parental exposure history and untoward pregnancy outcomes within this cohort, using to the fullest extent possible the recently revised estimates of the doses received by their parents, the so-called DS86 doses. Available for study are 70,073 terminations, but DS86 doses have not been or presently cannot be computed on the parents of 14,770. The frequency of untoward pregnancy outcomes, defined as a pregnancy terminating in a child with a major congenital malformation, and/or stillborn, and/or dying in the first 14 days of life, increases with combined (summed) parental dose, albeit not significantly so. Under a standard linear model, when the sample of observations is restricted to those children whose parents have been assigned the newly established DS86 doses (n = 55,303), ignoring concomitant sources of variation and assuming a neutron RBE of 20, the estimated increase per sievert in the predicted frequency of untoward outcomes is 0.00354 (+/- 0.00343). After adjustment for concomitant sources of variation, the estimated increase per sievert in the proportion of such births is 0.00422 (+/- 0.00342) if the neutron RBE is assumed to be 20. A one-hit model with appropriate adjustments for extraneous sources of variation results in an almost identical value, namely, 0.00412 (+/- 0.00364)

  18. Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry

    Directory of Open Access Journals (Sweden)

    Peter Agergaard

    2011-02-01

    Full Text Available Peter Agergaard1, Anders Hebert2, Jesper Bjerre3, Karina Meden Sørensen4, Charlotte Olesen3, John Rosendal Østergaard31Department of Pediatrics, Viborg Hospital, Viborg, Denmark; 2Department of Pediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark; 3Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark; 4Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, DenmarkIntroduction: The present study was conducted to establish the positive predictive value of congenital cardiac malformation diagnoses registered in the Danish National Patient Registry (NPR, thereby exploring whether the NPR can serve as a valid tool for epidemiologic studies of congenital cardiac malformations.Materials and methods: The study population comprised every individual born from 2000 to 2008 who was registered in the NPR with a congenital cardiac malformation diagnosis and treated at one of the two national departments of pediatric cardiology. Positive predictive values were established comparing NPR information with the clinical record of each individual.Results: A total of 2952 patients with a total of 3536 diagnoses were eligible for validation. Review of their clinical records unveiled no patient without cardiac malformation. In 98% (98%–99% of the cases, the NPR diagnosis could be found as the discharge diagnosis in the patient's clinical record, and in 90% (89%–91% of the cases the NPR diagnosis was considered a true reflection of the patient's actual malformation.Conclusions: Our study verifies that the present study population retrieved from the NPR is a valid tool for epidemiological research within the topic of congenital cardiac malformations, given that the research question is not dependent on a fully established sensitivity of the NPR. Precautions should be made regarding cardiac malformations characterized by low prevalence or poor predictive values, and the reported validity should not be extrapolated beyond the study period.Keywords: congenital cardiac malformation, registry, validation

  19. Risks of congenital malformations in offspring exposed to valproic acid in utero: A systematic review and cumulative meta-analysis.

    Science.gov (United States)

    Tanoshima, M; Kobayashi, T; Tanoshima, R; Beyene, J; Koren, G; Ito, S

    2015-10-01

    Despite extensive research efforts over decades, the teratogenic profile of valproic acid (VPA) remains obscure. We performed cumulative and conventional meta-analyses of cohort studies to determine the time profiles of signal emergence of VPA-associated congenital malformations (CMs) and to define risk estimates of each of the CMs. Fifty-nine studies were identified and analyzed. We found that the significant risk signals began to emerge over the last 10-20 years even before large-scale studies were performed: neural tube defect (the significant risk signal emerged in 1992); genitourinary and musculoskeletal anomalies (2004); cleft lip and/or palate (2005); and congenital heart defects (2006). At present, the risks of VPA-associated CMs are 2-7-fold higher than other common antiepileptic drugs. VPA should not be used as a first-line therapy in women of childbearing age unless it is the only option for the patient. PMID:26044279

  20. Interrupção da gravidez por malformação congénitica: a perspectiva da mulher / Pregnancy interruption due to congenital malformation: the woman's perspective

    Scientific Electronic Library Online (English)

    Lucília, Sousa; M. Graça, Pereira.

    Full Text Available O presente estudo pretende conhecer a experiência da interrupção terapêutica da gravidez, por malformação congénita, do ponto de vista das mulheres que a vivenciaram. Para a realização deste estudo, recorreu-se a uma metodologia qualitativa (Grounded Theory). A amostra, constituída por 18 mulheres, [...] resultou de uma amostragem intencional, sendo a recolha de dados realizada através de entrevista semi­ estruturada. Os resultados do estudo apontaram a interrupção de gravidez por malformação congénita, como uma experiência emocionalmente intensa. A notícia do diagnóstico de uma malformação foi recebida com choque e surpresa. A tomada de decisão de prosseguir ou interromper a gravidez foi considerada a mais difícil da vida do casal pela ambivalência de sentimentos e dilemas morais que produziu. Conhecer as reacções das mães, as razões e dificuldade na decisão representa, para os profissionais envolvidos no processo, uma oportunidade de definirem estratégias de aconselhamento e suporte facilitadoras do processo decisório. Abstract in english The present study aims to understand the experience of therapeutic pregnancy interruption, due to congenital malformation, according to mother’s perspective. For this study, a qualitative methodology (Grounded Theory) was chosen. The sample, composed of 18 women was the result of an intentional samp [...] ling and the data was collected through semi-structured interviews. The results of the study revealed the interruption of pregnancy, due to congenital malformation, as an emotional intense experience. The news of the diagnosis of a malformation was received with shock and surprise. The decision to continue or to interrupt the pregnancy was considered the most difficult in the couple’s life due to the ambivalence of feelings and moral dilemmas it produced. Understand mother’s reactions and the reasons and difficulties in the decision regarding pregnancy interruption represents for the professionals involved in the process, a chance to define strategies to facilitate counseling and support in the decision process.

  1. Congenital malformations of the supratentorial brain. Pt. 1. Disorders of cortical development

    International Nuclear Information System (INIS)

    Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development. (orig.)

  2. Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis

    OpenAIRE

    Grill Franz; Ghachem Maher; Chehida Farid; Al Kaissi Ali; Klaushofer Klaus

    2006-01-01

    Abstract Background Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. Case report We report a 12-year-old-female with progressive anterior vertebral fu...

  3. Prevalencia al nacimiento de malformaciones congénitas y de menor peso de nacimiento en hijos de madres adolescentes Prevalence of congenital malformations at birth among teenage mothers

    Directory of Open Access Journals (Sweden)

    Rosa Andrea Pardo

    2003-10-01

    Full Text Available In Chile, 14 to 16% of births occur in teenage mothers. These mothers apparently have a higher frequency of premature labor, low birth weight and congenital malformations. Aim: To assess the frequency of prematurity, congenital malformations and weight at birth among the offspring of adolescent mothers. Patients and methods: The births occurred in a hospital between 1982 and 2001, were analyzed using the Latin American Collaborative Study for Congenital Malformations (ECLAMC data base. Mothers were classified as teenagers when their age ranged between 10 and 19 years old and older when their age was over 20 years old. All women were subdivided as cases and controls. Results: The sample was formed by 894 teenage and 806 older mothers. Seven percent of both teenage and older mothers had offspring with one or more malformations. The incidence of low birth weight newborns and of prematurity was also similar in both groups of mothers. Conclusions: In this sample, offspring of teenage mothers do not have a higher frequency of malformations, low birth weight or prematurity (Rev Méd Chile 2003; 131: 1165-72.

  4. Prevalencia al nacimiento de malformaciones congénitas en hijos de madres adolescentes. Hospital Clínico Universidad de Chile: Período 2002-2011 / Congenital malformations among newborns of teenage mothers

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Lucía, Cifuentes O.

    2013-10-01

    Full Text Available [...] Abstract in english Background: The Chilean Ministry of Health has reported a meaningful increase of births from teenager mothers (aged less than 20 years) in the period 1990-2008. On the contrary, there was a decrease of births from teenage mothers at The University of Chile Clinical Hospital (HCUCH). Aim: To compare [...] the prevalence rates at birth of congenital malformations (CMF) in newborns from mothers younger than 20 with those of mothers between 20 and 34 years old. Patients and Methods: The Latin American Collaborative Study of Congenital Malformations (ECLAMC) data base of the HCUCH, since 1969 was analyzed. The last ten years (2002-2011) were studied. Results: There were 15,636 births in the period studied, 153 of them were stillbirths (0.97%). There were 1174 newborns from teenage mothers, 82 of them had one or more congenital malformations (7%). We found an association between smoking and drug consumption in mothers and CMF in their newborns. Conclusions: The rate of congenital malformations among offspring of teenage mothers is lower than the rate for mothers between 20 and 34 years old.

  5. Congenital pulmonary arteriovenous malformation: a rare cause of cyanosis in childhood

    OpenAIRE

    Mohammad Hassan Nezafati; Mahdi Kahrom; Hassan Mottaghi; Hadi Kahrom

    2009-01-01

    Pulmonary arteriovenous malformation (PAVM) is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis. We present two patients with severe cyanosis and their work-up to diagnosis of PAVM, as a rare cause of cyanosis in childhood.

  6. Congenital pulmonary arteriovenous malformation: a rare cause of cyanosis in childhood

    Directory of Open Access Journals (Sweden)

    Mohammad Hassan Nezafati

    2009-11-01

    Full Text Available Pulmonary arteriovenous malformation (PAVM is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis. We present two patients with severe cyanosis and their work-up to diagnosis of PAVM, as a rare cause of cyanosis in childhood.

  7. MRI of the lumbar spine at 7 Tesla in healthy volunteers and a patient with congenital malformations

    International Nuclear Information System (INIS)

    The aim of this study was to evaluate sequences that are established at lower magnetic field strengths for lumbar spine imaging at 7 Tesla (7 T) MR imaging. The lumbar spine of five healthy volunteers and a patient with spina bifida and meningocele were evaluated at 7 T. The examination included a T2-TSE (turbo spin echo), a 3D-DESS (double-echo steady-state sequence), a 3D-CISS (constructive interference in steady-state sequence), and a 3D-VIBE (volumetric interpolated breath hold examination) sequence. Imaging quality was evaluated by two raters on a three-level scale. The assessment included visualization of intraforaminal structures, the cauda equina, facet joints, and any abnormalities. Contrast ratios for intervertebral discs/vertebral bodies, vertebral bodies/cerebrospinal fluid (CSF) and CSF/spinal cord were calculated. The 3D-VIBE sequence provided best differentiation between intraforaminal structures. Visualization of the facet joints was reliable with VIBE, DESS, and CISS. Individual nerve roots of the cauda equina could only be delineated with the 3D-CISS sequence. CISS and DESS provided good contrast between vertebral bodies and intervertebral discs. Contrast between CSF and vertebral bodies was most pronounced for the T2-TSE sequence. Sufficient contrast between CSF and the spinal cord was only achieved with the T2-TSE sequence. VIBE and DESS sequences demonstrated best the bony malformations. Visualization of the meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use. (orig.)

  8. MRI of the lumbar spine at 7 Tesla in healthy volunteers and a patient with congenital malformations

    Energy Technology Data Exchange (ETDEWEB)

    Grams, Astrid E. [University Hospital Giessen and Marburg, Campus, Department of Neuroradiology, Giessen (Germany); University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Giessen, Justus Liebig University, Department of Neuroradiology, Giessen (Germany); Kraff, Oliver; Umutlu, Lale; Maderwald, Stefan; Ladd, Mark E.; Forsting, Michael [University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Essen, Department of Diagnostic and Interventional Radiology and Neuroradiology, Essen (Germany); Dammann, Philipp [University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Essen, Department of Neurosurgery, Essen (Germany); Gizewski, Elke R. [University Hospital Giessen and Marburg, Campus, Department of Neuroradiology, Giessen (Germany); University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany)

    2012-05-15

    The aim of this study was to evaluate sequences that are established at lower magnetic field strengths for lumbar spine imaging at 7 Tesla (7 T) MR imaging. The lumbar spine of five healthy volunteers and a patient with spina bifida and meningocele were evaluated at 7 T. The examination included a T2-TSE (turbo spin echo), a 3D-DESS (double-echo steady-state sequence), a 3D-CISS (constructive interference in steady-state sequence), and a 3D-VIBE (volumetric interpolated breath hold examination) sequence. Imaging quality was evaluated by two raters on a three-level scale. The assessment included visualization of intraforaminal structures, the cauda equina, facet joints, and any abnormalities. Contrast ratios for intervertebral discs/vertebral bodies, vertebral bodies/cerebrospinal fluid (CSF) and CSF/spinal cord were calculated. The 3D-VIBE sequence provided best differentiation between intraforaminal structures. Visualization of the facet joints was reliable with VIBE, DESS, and CISS. Individual nerve roots of the cauda equina could only be delineated with the 3D-CISS sequence. CISS and DESS provided good contrast between vertebral bodies and intervertebral discs. Contrast between CSF and vertebral bodies was most pronounced for the T2-TSE sequence. Sufficient contrast between CSF and the spinal cord was only achieved with the T2-TSE sequence. VIBE and DESS sequences demonstrated best the bony malformations. Visualization of the meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use. (orig.)

  9. Congenital malformation of fetus in a pregnancy following spontaneous ovulation in a case of premature ovarian failure

    Directory of Open Access Journals (Sweden)

    Priya Selvaraj

    2010-01-01

    Full Text Available Premature ovarian failure (POF, that is, amenorrhea before 40 years of age can be attributed to a variety of etiologies. Approximately 1% of women before 30 years are diagnosed with POF. Spontaneous ovulation leading to pregnancy in POF is even a rarer entity. We report a case where congenital malformations were diagnosed in a fetus following spontaneous ovulation in a case of POF. A 33-year-old woman presented to our center with primary infertility. On complete work up, she was diagnosed with POF and conceived with hormone replacement therapy and donor oocyte program. She delivered a healthy female baby through caesarean section. The patient reviewed later with amenorrhea of 40 days and pregnancy was confirmed. However, during antenatal follow-up congenital anomalies in fetus were diagnosed sonographically. The decision for termination of pregnancy was taken. To conclude, we recommend large-scale retrospective analysis that would define medical guidelines in cases of pregnancy following spontaneous ovulation in POF.

  10. Psychosocial job strain and risk of congenital malformations in offspring--a Danish National cohort study

    DEFF Research Database (Denmark)

    Larsen, A D; Hannerz, H; Thulstrup, A M; Bonde, J P; Obel, Carsten; Hougaard, K S

    2014-01-01

    OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth Cohort. POPULATION: A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. METHODS: Logis...

  11. Congenital colonic malformation (“short colon”) in a 4-month-old standardbred foal

    OpenAIRE

    Koenig, Judith B.; Rodriguez, Alexander; Colquhoun, J. Keith; Stämpfli, Henry

    2007-01-01

    During exploratory laparotomy of a foal with colic, a congenital abnormally developed large colon was identified incidentally. Long-term follow-up showed that the colt was more prone to gas-colic with diet and exercise changes than were other horses, due possibly to the short colon.

  12. A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle

    Directory of Open Access Journals (Sweden)

    Zhang Yi

    2012-07-01

    Full Text Available Abstract Background Complex vertebral malformation (CVM and bovine leukocyte adhesion deficiency (BLAD are two autosomal recessive lethal genetic defects frequently occurring in Holstein cattle, identifiable by single nucleotide polymorphisms. The objective of this study is to develop a rapid and reliable genotyping assay to screen the active Holstein sires and determine the carrier frequency of CVM and BLAD in Chinese dairy cattle population. Results We developed real-time PCR-based assays for discrimination of wild-type and defective alleles, so that carriers can be detected. Only one step was required after the DNA extraction from the sample and time consumption was about 2 hours. A total of 587 Chinese Holstein bulls were assayed, and fifty-six CVM-carriers and eight BLAD-carriers were identified, corresponding to heterozygote carrier frequencies of 9.54% and 1.36%, respectively. The pedigree analysis showed that most of the carriers could be traced back to the common ancestry, Osborndale Ivanhoe for BLAD and Pennstate Ivanhoe Star for CVM. Conclusions These results demonstrate that real-time PCR is a simple, rapid and reliable assay for BLAD and CVM defective allele detection. The high frequency of the CVM allele suggests that implementing a routine testing system is necessary to gradually eradicate the deleterious gene from the Chinese Holstein population.

  13. Associação entre o Uso de Abortifacientes e Defeitos Congênitos Association of the Use of Abortifacient Drugs with Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Lilia Maria de Azevedo Moreira

    2001-09-01

    Full Text Available Objetivo: verificar a associação entre o uso de abortivos durante o primeiro trimestre de gestação e a ocorrência de defeitos congênitos em recém-nascidos (RN. Métodos: estudo caso-controle com amostra de 800 nativivos, em maternidade pública de Salvador, Bahia, pelo período de um ano. Eram selecionados os seis primeiros nascimentos ocorridos em um só dia, sendo feitas consultas aos prontuários para verificação do registro de defeitos congênitos. Nos casos positivos eram observados os bebês afetados e realizada entrevista com as puérperas para o levantamento de antecedentes gestacionais e genéticos, utilizando questionário como instrumento de coleta de dados. Posteriormente os dados eram inseridos em programa de computador Epi-Info 5.0 para análise estatística. Resultados: as puérperas estudadas foram predominantemente de classe socioeconômica baixa (74,8%, sem escolaridade ou apenas 1º grau (61,1%. A taxa geral de defeitos congênitos foi de 4,7%. Entre as puérperas, 16% relataram a ingestão de substâncias abortivas no primeiro trimestre de gestação e 10,9% destas tiveram filhos com malformações. Nas crianças em que as mães não utilizaram abortivos essa incidência foi 3,6%. Os principais agentes usados como abortifacientes foram os chás medicinais e o misoprostol (Cytotec. O alumã (Vermonia baiensis Tol e o espinho cheiroso (Kanthoxilum shifolium Lam foram as plantas mais utilizadas inadequadamente, pois não apresentam propriedades abortivas, justificando assim a sua ineficácia. Conclusão: o presente estudo evidencia que tentativas de abortamento são práticas muito usuais em populações de baixa renda. Revela ainda que o uso de abortivos provoca um percentual significativo de malformações congênitas em bebês nativivos.Purpose: to verify the association of the use of abortifacient drugs during the first 3 months of gestation with the occurrence of congenital malformations in live births. Patients and Methods: population-based case-control study through selection of the first six live births on a day, over the period of a year, at a public maternity in Salvador, Bahia, with a total of 800 cases. Studies were performed through investigation of birth records in the search of congenital malformation data, observation of selected malformed newborns, followed by interview with the mothers for collection of anamnesis data, by application of a questionnaire. Later on data were statistically evaluated by Epi-Info 5.0 software. Results: puerperae came from a low socialeconomic class (74.8%, without any or almost any schooling (61.1%. The general percentage of birth defects was estimated at 4.7%. Out of 800 puerperae, 16% reported abortifacient drug intake during the first 3 months of gestation and 10.9% of them had malformed babies. This incidence was 3.6% in children whose mothers denied the intake of any abortifacient drugs. Agents most commonly taken in those unsuccessful abortive attempts were misoprostol (Cytotec and herbs, specially "alumã" (Vermonia baiensis Tol and "espinho cheiroso" (Kanthoxilum shifolium Lam, which, according to the literature, do not really have any abortive effect. Conclusion: the study revealed the extension of intentional miscarriage in a low income population and showed that the occurrence of birth defects could be related to gestational exposure to misoprostol and herbal medicine intake.

  14. Associação entre o Uso de Abortifacientes e Defeitos Congênitos / Association of the Use of Abortifacient Drugs with Congenital Malformations

    Scientific Electronic Library Online (English)

    Lilia Maria de Azevedo, Moreira; Alba Lima, Dias; Hilda Beatriz da Silva, Ribeiro; Clarissa Lima, Falcão; Tony Davinson, Felício; Carla, Stringuetti; Maria das Dores Ferreira, Santos.

    2001-09-01

    Full Text Available Objetivo: verificar a associação entre o uso de abortivos durante o primeiro trimestre de gestação e a ocorrência de defeitos congênitos em recém-nascidos (RN). Métodos: estudo caso-controle com amostra de 800 nativivos, em maternidade pública de Salvador, Bahia, pelo período de um ano. Eram selecio [...] nados os seis primeiros nascimentos ocorridos em um só dia, sendo feitas consultas aos prontuários para verificação do registro de defeitos congênitos. Nos casos positivos eram observados os bebês afetados e realizada entrevista com as puérperas para o levantamento de antecedentes gestacionais e genéticos, utilizando questionário como instrumento de coleta de dados. Posteriormente os dados eram inseridos em programa de computador Epi-Info 5.0 para análise estatística. Resultados: as puérperas estudadas foram predominantemente de classe socioeconômica baixa (74,8%), sem escolaridade ou apenas 1º grau (61,1%). A taxa geral de defeitos congênitos foi de 4,7%. Entre as puérperas, 16% relataram a ingestão de substâncias abortivas no primeiro trimestre de gestação e 10,9% destas tiveram filhos com malformações. Nas crianças em que as mães não utilizaram abortivos essa incidência foi 3,6%. Os principais agentes usados como abortifacientes foram os chás medicinais e o misoprostol (Cytotec). O alumã (Vermonia baiensis Tol) e o espinho cheiroso (Kanthoxilum shifolium Lam) foram as plantas mais utilizadas inadequadamente, pois não apresentam propriedades abortivas, justificando assim a sua ineficácia. Conclusão: o presente estudo evidencia que tentativas de abortamento são práticas muito usuais em populações de baixa renda. Revela ainda que o uso de abortivos provoca um percentual significativo de malformações congênitas em bebês nativivos. Abstract in english Purpose: to verify the association of the use of abortifacient drugs during the first 3 months of gestation with the occurrence of congenital malformations in live births. Patients and Methods: population-based case-control study through selection of the first six live births on a day, over the peri [...] od of a year, at a public maternity in Salvador, Bahia, with a total of 800 cases. Studies were performed through investigation of birth records in the search of congenital malformation data, observation of selected malformed newborns, followed by interview with the mothers for collection of anamnesis data, by application of a questionnaire. Later on data were statistically evaluated by Epi-Info 5.0 software. Results: puerperae came from a low socialeconomic class (74.8%), without any or almost any schooling (61.1%). The general percentage of birth defects was estimated at 4.7%. Out of 800 puerperae, 16% reported abortifacient drug intake during the first 3 months of gestation and 10.9% of them had malformed babies. This incidence was 3.6% in children whose mothers denied the intake of any abortifacient drugs. Agents most commonly taken in those unsuccessful abortive attempts were misoprostol (Cytotec) and herbs, specially "alumã" (Vermonia baiensis Tol) and "espinho cheiroso" (Kanthoxilum shifolium Lam), which, according to the literature, do not really have any abortive effect. Conclusion: the study revealed the extension of intentional miscarriage in a low income population and showed that the occurrence of birth defects could be related to gestational exposure to misoprostol and herbal medicine intake.

  15. First-Trimester Pregnancy Exposure to Venlafaxine or Duloxetine and Risk of Major Congenital Malformations

    DEFF Research Database (Denmark)

    Lassen, Dorte; Ennis, Zandra Nymand; Damkier, Per

    2015-01-01

    Major depressive disorder is common among women in child-bearing age, and medical treatment is subject to substantial discussions and controversies. For Selective Serotonin reuptake inhibitors, SSRIs, a vast amount of data are available. For the newer antidepressant group of serotonin and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformat...

  16. Pattern of congenital malformations in newborn: a hospital-based study

    OpenAIRE

    Mohamed El Koumi; Ehab Al Banna; Ibrahim Lebda

    2013-01-01

    Background: Birth defects, encountered frequently by pediatricians, are important causes of childhood morbidity and mortality. Birth defects can be classified based on their severity, pathogenic mechanism or whether they involve a single system or multiple systems. This hospital based prospective descriptive study highlights the prevalence of congenital anomalies (CAs) in one year, among liveborn neonates delivered in a university hospital. Design and methods: All women giving birth to babies...

  17. Congenital varicella-zoster virus infection. A rare case of severe brain and ocular malformations without limb or cutaneous involvement in a newborn after maternal subclinical infection

    International Nuclear Information System (INIS)

    Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic malformation of the left eye, and absence of the right eye globe. Radiological work up revealed severe brain and eye malformations, serological studies of both mother and baby were positive for VZV. The baby underwent palliative surgery to the eyes, upon discharge, a plan of multidisciplinary team was made for follow up including neurologist, ophthalmologist, pediatrician and social worker. Congenital VZV infection can be severe enough to cause catastrophic fetal anomalies and damage to the vital organs as many of those infants die in infancy. (author)

  18. Congenital malformations caused by Stryphnodendron fissuratum (Leg. Mimosoideae) in guinea pigs (Cavia porcellus).

    Science.gov (United States)

    Macedo, Josenaldo S; Rocha, Brena P; Colodel, Edson M; Freitas, Sílvio H; Dória, Renata G S; Riet-Correa, Franklin; Evêncio-Neto, Joaquim; Mendonça, Fábio S

    2015-11-01

    The aim of this study was to evaluate the toxicity of Stryphnodendron fissuratum pods in guinea pigs (Cavia porcellus) and test the hypothesis that this plant has teratogenic effects. Thus, sixteen guinea pigs were randomly divided into four groups of four animals each. Groups 10, 20 and 40 consisted of guinea pigs that received commercial food that contained crushed pods of S. fissuratum at concentrations of 10, 20 and 40 g/kg, respectively, during the period of organogenesis. Control group consisted of guinea pigs under the same management conditions that did not receive crushed pods of S. fissuratum in their food. In all experimental groups, the main clinical signs of poisoning consisted of anorexia, prostration, absence of vocalizations, alopecia, diarrhea, and abortions within the adult guinea pigs. Those that did not abort gave birth to weak, malnourished pups, some of which had fetal malformations. The main teratogenic changes consisted of eventration, arthrogryposis, amelia of the forelimbs, anophthalmia, microphthalmia, anotia and agnathia. The reductions in the number of offspring and the malformations observed in the experimental groups suggest that S. fissuratum affects fetal development and is teratogenic. PMID:26363291

  19. Combined use of selective serotonin reuptake inhibitors and sedatives/hypnotics during pregnancy: risk of relatively severe congenital malformations or cardiac defects. A register study

    OpenAIRE

    Reis, Margareta; Kallen, Bengt

    2013-01-01

    Objectives To investigate the proposed synergistic teratogenic effect of use of selective serotonin receptor inhibitors (SSRI) together with sedatives or hypnotics, primarily benzodiazepines, during pregnancy. Design Cohort study of congenital malformations after maternal use of SSRI, sedatives/hypnotics or the combination of the two drug categories. Setting Swedish national health registers. Participants A total of 10?511 infants born of women who had used SSRI drugs but no other central ner...

  20. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

    OpenAIRE

    Megarbane, A; Choueiri, R; Bleik, J; Mezzina, M.; Caillaud, C

    1999-01-01

    We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.???Keywords: autosomal recessive; cataract; consanguinity; mental retardation

  1. Pesquisaje ultrasonográfico de marcadores genéticos y malformaciones congénitas mayores / Ultrasonographic Screening of Genetic Markers and Serious Congenital Malformations

    Scientific Electronic Library Online (English)

    Filiberto, Miranda Rosales; Cynara, Mirón Folgoso; Arnaldo, Balaguer Burón; Eida, Iglesias Vidal; Idalmís, Pérez Gonzáles; Deborah, Cento Pernas.

    2012-06-01

    Full Text Available Introducción: la determinación del valor predictivo de los marcadores genéticos es de vital importancia; ya que la presencia de varios marcadores en etapas tempranas de la gestación es un indicador de la presencia o no de aneuploidias. Objetivo: elevar la calidad del diagnóstico prenatal desde las p [...] rimeras semanas del embarazo. Método: se realizó un estudio descriptivo de serie de casos donde se incluyeron a todas las embarazadas del Policlínico Docente Comunitario José Martí Pérez. El muestreo fue no probabilístico; se realizó un estudio ecográfico en el primer y segundo trimestre; las anomalías detectadas por ultrasonido y los diagnósticos anatomopatológicos fueron clasificados de acuerdo con la estructura anatómica mayor afectada. La comparación de sus resultados permitió corroborar el diagnóstico preliminar. Se realizó análisis estadístico descriptivo y los resultados se expresaron en porcentajes y tablas. Resultados: se tomaron en cuenta según su significado clínico o no los resultados de los marcadores genéticos registrados; los de mayores incidencias fueron la visualización de estructuras colectoras y la imagen de ping pong ball, la presencia de varios marcadores se asoció a malformaciones congénitas mayores. El mayor número de alteraciones se detectaron entre 20 y 34 años. Conclusiones: el pesquisaje de marcadores genéticos eleva la calidad del diagnóstico prenatal, ya que aparecen tempranamente y están relacionados o no con alteraciones cromosómicas u otras malformaciones congénitas mayores. Abstract in english Introduction: the determination of the predictive value of genetic markers is of vital importance; because the presence of several markers in early stages of gestation is an indicator of the presence or not of aneuploidy. Objective: to improve the quality of prenatal diagnosis from the first weeks o [...] f pregnancy. Method: a descriptive retrospective study was carried out where all pregnant women who have undergone the ultrasonographic study during the 1st and 2nd trimester were included. Non probabilistic sampling was used. Anomalies detected by ultrasonography and pathoanatomical diagnosis were classified according to the most affected anatomical structure. Comparison of their results corroborated the preliminary diagnosis. Descriptive statistical analysis was performed and results were expressed in percentages and tables. Results: results of registered genetic markers were taken into account according to its clinical meaning or not; those of more incidences were the visualization of collector structures and the ping pong ball image, the presence of several markers associated with serious congenital malformations; the biggest number of alterations was detected between 20 and 34 years. Conclusions: the screening of genetic markers increases the quality of prenatal diagnosis, because of their early appearance and they are related or not with chromosomal alterations or other serious congenital malformations.

  2. Malformações cardíacas congênitas em necropsias pediátricas: características, associações e prevalência / Congenital cardiac malformations in pediatric necropsies: characteristics, associations and prevalence

    Scientific Electronic Library Online (English)

    Dinaldo de Lima, Leite; Hélcio, Miziara; Moema, Veloso.

    2010-03-01

    Full Text Available FUNDAMENTO: No Brasil, desde 2001, as anomalias congênitas constituem a segunda causa de morte em crianças menores de um ano, respondendo os defeitos cardiovasculares por 39,4% destes óbitos. OBJETIVOS: Conhecer a prevalência e as características das malformações cardíacas congênitas em necropsias p [...] ediátricas realizadas no Hospital Regional da Asa Sul, Brasília, DF, de janeiro de 1996 a dezembro de 2007. MÉTODOS: Estudo descritivo, transversal, sendo revisadas 1591 necropsias realizadas de janeiro de 1996 a dezembro de 2007 e encontradas 189 (11,9%) com malformações cardíacas congênitas, incluídas neste trabalho. RESULTADOS: As anomalias cardíacas foram observadas principalmente no grupo dos neomortos (117/61,9%), seguindo-se o grupo dos natimortos (35/18,5%), o grupo dos lactentes (30/15,9%) e o grupo dos pré-escolares (7/3,7%), não havendo nenhum caso entre os escolares. As principais alterações detectadas nessa população foram: a comunicação interatrial em 96 pacientes (27%), a comunicação interventricular em 66 (18,5%) e a persistência do canal arterial em 51 (14,3%), sem predomínio entre os sexos. Em 133 pacientes (70,4%), as cardiopatias eram múltiplas e em 96 (50,8%) estavam associadas a anomalias de outros órgãos e sistemas; dentre esses, 45 (23,8%) apresentaram cardiopatias como componentes de síndromes, destacando-se a alta prevalência de doenças cromossômicas, especialmente as trissomias, em todas as faixas etárias. CONCLUSÕES: Os resultados deste trabalho mostram elevada prevalência de anomalias cardíacas congênitas em nosso meio e distribuição e associações semelhantes às observadas em países desenvolvidos. A elevada mortalidade associada a essas anomalias alerta para a necessidade de pesquisas mais abrangentes a fim de se conhecer os fatores de risco e buscar a prevenção primária de alguns desses defeitos. Abstract in english BACKGROUND: In Brazil, since 2001, the congenital abnormalities have represented the second cause of death in children younger than one year, with cardiovascular defects being responsible for 39.4% of these deaths. OBJECTIVES: To establish the prevalence and the characteristics of the congenital car [...] diac malformations in pediatric necropsies performed in Hospital Regional da Asa Sul, Brasília, DF, Brazil, from January 1996 to December 2007. METHODS: This is a descriptive, cross-sectional study that reviewed 1,591 necropsies performed from January 1996 to December 2007 and found 189 (11.9%) with congenital cardiac malformations, included in this study. RESULTS: The cardiac abnormalities were observed mainly in the group of live births (117/61.9%), followed by the stillbirths (35/18.5%), the infant group (30/15.9%) and the preschoolers' group (7/3.7%), with no cases identified among school-aged children. The main alterations detected were: interatrial communication in 96 patients (27%), interventricular communication in 66 patients (18.5%) and patent ductus arteriosus in 51 (14.3%), with no predominance of either sex. In 133 patients (70.4%), the cardiopathies were multiple and in 96 (50.8%) they were associated with anomalies in other organs and systems; among these, 45 (23.8%) presented cardiopathies as syndrome components, especially trisomies, at all age ranges. CONCLUSIONS: The results of the present study show a high prevalence of congenital cardiac anomalies in our country and distribution and association that were similar to the ones observed in developed countries. The high mortality associated to such anomalies highlights the need for more comprehensive research in order to identify the risk factors and seek the primary prevention of some of these defects.

  3. Malformações cardíacas congênitas em necropsias pediátricas: características, associações e prevalência Congenital cardiac malformations in pediatric necropsies: characteristics, associations and prevalence

    Directory of Open Access Journals (Sweden)

    Dinaldo de Lima Leite

    2010-03-01

    Full Text Available FUNDAMENTO: No Brasil, desde 2001, as anomalias congênitas constituem a segunda causa de morte em crianças menores de um ano, respondendo os defeitos cardiovasculares por 39,4% destes óbitos. OBJETIVOS: Conhecer a prevalência e as características das malformações cardíacas congênitas em necropsias pediátricas realizadas no Hospital Regional da Asa Sul, Brasília, DF, de janeiro de 1996 a dezembro de 2007. MÉTODOS: Estudo descritivo, transversal, sendo revisadas 1591 necropsias realizadas de janeiro de 1996 a dezembro de 2007 e encontradas 189 (11,9% com malformações cardíacas congênitas, incluídas neste trabalho. RESULTADOS: As anomalias cardíacas foram observadas principalmente no grupo dos neomortos (117/61,9%, seguindo-se o grupo dos natimortos (35/18,5%, o grupo dos lactentes (30/15,9% e o grupo dos pré-escolares (7/3,7%, não havendo nenhum caso entre os escolares. As principais alterações detectadas nessa população foram: a comunicação interatrial em 96 pacientes (27%, a comunicação interventricular em 66 (18,5% e a persistência do canal arterial em 51 (14,3%, sem predomínio entre os sexos. Em 133 pacientes (70,4%, as cardiopatias eram múltiplas e em 96 (50,8% estavam associadas a anomalias de outros órgãos e sistemas; dentre esses, 45 (23,8% apresentaram cardiopatias como componentes de síndromes, destacando-se a alta prevalência de doenças cromossômicas, especialmente as trissomias, em todas as faixas etárias. CONCLUSÕES: Os resultados deste trabalho mostram elevada prevalência de anomalias cardíacas congênitas em nosso meio e distribuição e associações semelhantes às observadas em países desenvolvidos. A elevada mortalidade associada a essas anomalias alerta para a necessidade de pesquisas mais abrangentes a fim de se conhecer os fatores de risco e buscar a prevenção primária de alguns desses defeitos.BACKGROUND: In Brazil, since 2001, the congenital abnormalities have represented the second cause of death in children younger than one year, with cardiovascular defects being responsible for 39.4% of these deaths. OBJECTIVES: To establish the prevalence and the characteristics of the congenital cardiac malformations in pediatric necropsies performed in Hospital Regional da Asa Sul, Brasília, DF, Brazil, from January 1996 to December 2007. METHODS: This is a descriptive, cross-sectional study that reviewed 1,591 necropsies performed from January 1996 to December 2007 and found 189 (11.9% with congenital cardiac malformations, included in this study. RESULTS: The cardiac abnormalities were observed mainly in the group of live births (117/61.9%, followed by the stillbirths (35/18.5%, the infant group (30/15.9% and the preschoolers' group (7/3.7%, with no cases identified among school-aged children. The main alterations detected were: interatrial communication in 96 patients (27%, interventricular communication in 66 patients (18.5% and patent ductus arteriosus in 51 (14.3%, with no predominance of either sex. In 133 patients (70.4%, the cardiopathies were multiple and in 96 (50.8% they were associated with anomalies in other organs and systems; among these, 45 (23.8% presented cardiopathies as syndrome components, especially trisomies, at all age ranges. CONCLUSIONS: The results of the present study show a high prevalence of congenital cardiac anomalies in our country and distribution and association that were similar to the ones observed in developed countries. The high mortality associated to such anomalies highlights the need for more comprehensive research in order to identify the risk factors and seek the primary prevention of some of these defects.

  4. Pattern of congenital malformations in newborn: a hospital-based study

    Directory of Open Access Journals (Sweden)

    Mohamed El Koumi

    2013-02-01

    Full Text Available Background: Birth defects, encountered frequently by pediatricians, are important causes of childhood morbidity and mortality. Birth defects can be classified based on their severity, pathogenic mechanism or whether they involve a single system or multiple systems. This hospital based prospective descriptive study highlights the prevalence of congenital anomalies (CAs in one year, among liveborn neonates delivered in a university hospital. Design and methods: All women giving birth to babies were included. Demographic details, associated risk factors and the type of CAs in babies were recorded. Diagnosis of CAs was based on clinical evaluation, radiographic examination and chromosomal analysis of newborn whenever recommended. Results: The overall incidence of CAs among liveborn neonates was 2.5%, as most of the cases were referred to Zagazig University Hospital for delivery. The musculoskeletal system (23% was the most commonly involved; followed by central nervous system (20.3%. Involvement of more than one system was observed in (28.6% cases. Out of the maternal and fetal risk factors, parental consanguinity, maternal undernutrition and obesity, positive history of an anomaly in the family, low birth weight(LBW, and prematurity were significantly associated with higher frequency of CAs(p <0.05, with non-significant differences for maternal age and the sex of the neonates. Conclusion : The current study highlighted the point prevalence of congenital anomalies in one year in zagazig university hospital in Egypt. The present study revealed a high prevalence of congenital anomalies in our locality and stressed upon the importance of carrying out a thorough clinical examination of all neonates at birth.

  5. Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for congenital cystic adenomatoid malformation of the lung

    Directory of Open Access Journals (Sweden)

    Ceylan Yavuz

    2005-04-01

    Full Text Available Abstract Background Spontaneous monochorionic triamniotic pregnancy is rare and is at increased risk for pregnancy complications. The presence of an anomalous fetus further complicates the management. Case presentation We present a case of monochorionic triamniotic triplet pregnancy diagnosed at 15 weeks of gestation with one fetus having developed a multicystic lung lesion, suggestive of congenital cystic adenomatoid malformation (CCAM. At 24 weeks, the largest cyst measured 10 mm in diameter. We managed the pregnancy conservatively and delivered three live male fetuses with birth weights 1560 g, 1580 g and 1590 g at 35 weeks of gestation. Two newborns were admitted to the neonatal intensive care unit with respiratory distress, the third one died due to sepsis 7 days postpartum. One of the newborns was discharged healthy at 24 days postpartum. The newborn with CCAM developed a pneumothorax on the right side, recovered after treatment, and was discharged after one month. Computerized tomography (CT of the infant at 3 months demonstrated two cystic lesions in the middle lobe of the right lung measuring 25 mm and 15 mm. A repeat CT of the infant at 6 months showed a 30 mm solitary cystic mass. Conclusion Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for CCAM, present rarely and can be managed conservatively. These findings may help in decision making and counselling of parents.

  6. The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association

    Energy Technology Data Exchange (ETDEWEB)

    Petrushkina, N. P.; Koshurnikova, N. A.; Okatenko, P. V.

    2004-07-01

    For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns one year at least. Ozyorsk is located near the large-scale nuclear complex Mayak which became operational in the Southern Ural in 1948. The aim of our follow-up is to study prevalence of CMs detected at birth or during the first year of life among the children born in the city of Ozyorsk in 1974-1988. This cohort was chosen for study, because medical records on children of this birth years are well preserved and the most complete information for these years might be obtained. (Author) 17 refs.

  7. The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association

    International Nuclear Information System (INIS)

    For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns one year at least. Ozyorsk is located near the large-scale nuclear complex Mayak which became operational in the Southern Ural in 1948. The aim of our follow-up is to study prevalence of CMs detected at birth or during the first year of life among the children born in the city of Ozyorsk in 1974-1988. This cohort was chosen for study, because medical records on children of this birth years are well preserved and the most complete information for these years might be obtained. (Author) 17 refs

  8. Prevalencia al nacimiento de malformaciones congénitas en las maternidades chilenas participantes en el ECLAMC en el período 2001-2010 / Prevalence of congenital malformations at birth in chilean maternity hospitals

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Lucía, Cifuentes O.

    2014-09-01

    Full Text Available [...] Abstract in english Background: The Latin American Collaborative Study of Congenital Malformations (ECLAMC) is an epidemiological surveillance system operating in 11 South American countries since 1969. Aim: To analyze the Congenital Malformation prevalence rate at birth from 2001 to 2010 in Chilean Hospitals participa [...] ting in ECLAMC. To compare these rates with those of the period 1982-1994. Material and Methods: Review of the ECLAMC database, which contains information about 282.568 newborns, 2.110 of them stillbirths (0.75%) from 13 Maternity hospitals. Results: In the study period, 10.925 newborns had congenital malformations (3.9 %). Their frequency was lower in live newborns than stillbirths (3.8 and 15.3%, respectively). Compared with the 1982-1994 period, congenital malformation prevalence rates at birth were higher. They stabilized in approximately 4 %, from 1985 to 2010. The prevalence of some anomalies such as Down syndrome increased significantly. On the other hand, there was a reduction in the prevalence of spina bifida and anencephaly. Conclusions: Prevalence rates of congenital malformations at birth remained stable in the last 18 years in Chilean Hospitals participating in ECLAMC. However the prevalence of some malformations such as Down syndrome, Polydactyly, anotia-microtia, syndactyly and cleft palate have increased. The prevalence rates of spina bifida and anencephaly have decreased.

  9. Diagnóstico ultrasonográfico de malformaciones congénitas: Nuestra experiencia en el período 1983-1995 Ultrasonographic diagnosis of congenital malformations: Our experiences in the period 1983-1995

    Directory of Open Access Journals (Sweden)

    Miguel Pérez Ramírez

    1997-06-01

    Full Text Available Se hizo un resumen del trabajo realizado durante 13 años con ecografía bidimensional en el Departamento de ultrasonido de nuestro hospital, motivados por la importancia de la detección intraútero, cada vez más precoz, de las malformaciones congénitas, con el propósito de demostrar el valor de la ecografía bidimensional para el diagnóstico de éstas. Revisamos los expedientes clínicos de las pacientes con malformaciones diagnosticadas y analizamos variables como: positividad del diagnóstico, principales tipos de malformaciones encontradas, así como las causas de los errores cometidos. Entre los principales resultados obtenidos tenemos que de los 73 866 exámenes realizados, encontramos 147 malformaciones, o sea, una malformación por cada 502,4 estudios realizados, lo que arroja un promedio anual de 11,3 malformaciones. Entre las malformaciones más frecuentemente diagnosticadas encontramos los del sistema nervioso central, siguiéndoles las renales, cardíacas, digestivas y otras. Concluimos señalando que a pesar de las novedosas técnicas aparecidas últimamente, la ecografía bidimensional sigue siendo, en manos expertas, un medio ideal, relativamente barato o inocuo para el diagnóstico de las malformaciones congénitas.It was made a summary of the work carried out during 13 years with bidimensional echography at the Ultrasound Department of our hospital, motivated by the importance of detecting intrauterus, increasingly early, and congenital malformations aimed at demonstrating the value of bidemensional echography for their diagnosis. The medical histories of the patients with diagnosed malformations were reviewed and variables such as the positivity of the diagnosis and the main types of malformations found were analyzed. The causes of the mistakes made were also examined. Among the principal results obtained it was found that of the 73 866 examinations made 147 were malformations, that is, a malformation per every 502.4 conducted studies. The annual average was of 11.3 malformations. One of the most frequently diagnosed malformations was that of the central nervous system, followed by the renal, cardiac, digestive and others. It is concluded that in spite of the appearance of new techniques, the bidemensional echography is still, in expert hands, a relatively cheap or innocuous ideal means for the diagnosis of congenital malformations.

  10. Complex congenital heart malformation evaluated with MR imaging at 0.3 T

    International Nuclear Information System (INIS)

    The aim of this study was to evaluate the efficiency of MR imaging at 0.3 T as the single modality in diagnosing complex congenital heart disease (CHD). Films from 45 cases were reviewed in two stages by four specialists and one fellow in pediatric radiology, who were unfamiliar with the patients. First a general review of CHD diagnosis was made, then a detailed study of anomalous venous return was performed. Regarding the general diagnosis of cardiovascular anomalies the results were good, with sensitivity of 80%, specificity of 96%, a positive predictive value of 88%, a negative predictive value of 93% and accuracy of 92%. As expected, the less experienced reviewer had somewhat lower figures. As for detailed evaluation of the anomalous veins, the diagnostic results were again good (sensitivity 85%), although less so when also the connection sites of the anomalous veins were considered (sensitivity 79%). The specificity of the findings was high at 97%. MR imaging at 0.3 T is valuable in the diagnosis of comples CHD, especially for anomalous vessels and their connections. (orig.)

  11. Anorectal malformations

    OpenAIRE

    Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

    2015-01-01

    Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with ...

  12. Diagnóstico prenatal y atención de las malformaciones congénitas y otras enfermedades genéticas Prenatal diagnosis and medical care of congenital malformations and other genetic diseases.

    Directory of Open Access Journals (Sweden)

    Manuel Piloto Morejón

    2001-12-01

    Full Text Available Se realizó un estudio longitudinal, prospectivo y descriptivo en la provincia de Pinar del Río, en el año 1998, para contribuir al conocimiento de las malformaciones congénitas y las enfermedades genéticas. Se estudiaron 128 gestantes cuyos fetos tenían diagnóstico de 1 o más malformaciones congénitas o enfermedad genética, de ellas, 108 solicitaron interrupción del embarazo y las malformaciones más frecuentes fueron: las cardiovasculares (29,69 %, los defectos del tubo neural (17,97 % y las renales (14,84 %. Se observó que la región occidental tuvo la mayor tasa de malformaciones detectadas por 1 000 nacimientos (16,80, por encima de la tasa provincial (11,82 y que la edad gestacional promedio al momento del diagnóstico prenatal fue de 21,79 sem (DE = =3,99. Hubo un 6,54 y un 1,87 % de complicaciones maternas en el aborto-parto y en el puerperio, respectivamente. En las 20 embarazadas que decidieron no interrumpirse el embarazo, hubo evolutivamente 25 % de muertes fetales tardías, 10 % de muertes neonatales precoces, 5 % de muertes neonatales tardías y posneonatales y 55 % de niños vivos al año de edad (n = 11, aunque todos con malformaciones y diferentes grados de afectación. Se obtuvo el 99,03 % de confirmación del diagnóstico prenatal.A longitudinal, prospective and descriptive study of congenital malformations and genetic diseases was made in Pinar del Rio province in 1998. One-hundred and twenty eight pregnant women whose fetuses had been diagnosed with one or more congenital malformations or genetic diseases were studied. One hundred and eight of them asked for the termination of their pregnancies and the most frequent malformations were: cardiovascular (29,69%, neural tube defects (17,97% and renal malformations (14,84%. It was observed that the Western region showed the highest rate of malformations detected per 1000 births (16,80, even higher than the provincial rate (11,82 and that the average gestational age at the moment of the prenatal diagnosis was 21.79 weeks (DE=3,99. The maternal complications reached 6,54% and 1,87% in the abortion-delivery and the puerperium respectively. In the 20 pregnant women who decided not to terminate their pregnancies, there were 25% of late fetal deaths; 10% of early neonatal deaths, 5% of late neonatal deaths and 55% of live infants at 1 year of age (n=11, although all of them presented with malformations and different levels of impact. The prenatal diagnosis was confirmed in 99,03%.

  13. Neurological congenital malformations in a tertiary hospital in south Brazil Malformações neurológicas congênitas observadas em hopsital terciário no sul do Brasil

    Directory of Open Access Journals (Sweden)

    Ana Guardiola

    2009-09-01

    Full Text Available BACKGROUND: Congenital anomalies are one of the main causes of morbidity and mortality among infants. The involvement of the central nervous system (CNS occurs in 21% of cases. OBJECTIVE: To identify incidence of CNS malformations and associated factors in newborns at a Terciary Hospital of Porto Alegre. METHOD: Case-control study conducted between 2000 and 2005 based on the Latin American Collaborative Study of Congenital Malformations database. RESULTS: Among 26,588 births registered in this period, 3.67% presented with malformations (IC=95%; 3.44-3.9, being 0.36% of the CNS (IC=95%,(0.29-0.43. The most common CNS malformation was meningomielocele (10.4%. Young maternal age (p=0.005; low birth weight (p=0.015; large cephalic perimeter (p=0.003; post term birth (p=0.000 and low APGAR indexes at the 1st and 5th minutes were associated with CNS malformations. CONCLUSION: We found an incidence of CNS malformations similar as compared to literature.Anomalias congênitas são umas das principais causas de morbimortalidade infantil. O sistema nervoso central (SNC é acometido em 21% dos casos. OBJETIVO: Identificar a incidência e fatores associados a malformações do SNC em recém nascidos na maternidade de um hospital terciário de Porto Alegre. MÉTODO: Estudo controle realizado de janeiro de 2000 a dezembro de 2005, baseado no banco de dados do Estudo Colaborativo Latino Americano de Malformações Congênitas. RESULTADOS: Dos 26.588 nascimentos, 3,67% apresentaram malformação (IC=95%; 3,44-3,9, com 0,36% do SNC (IC=95%, (0,29-0,43. A malformação do SNC mais comum foi hidrocefalia (10,9%. Menor idade materna (p=0,005; menor peso ao nascimento (p=0,015, maior perímetro cefálico (p=0,003; nascimentos pré-termo (p=0,000 e menores índice APGAR no 1º e 5º minutos (p<0,000 apresentaram associação com malformações do SNC. CONCLUSÃO: Foi encontrada incidência similar de malformações do SNC comparada à literatura.

  14. Major congenital malformations and residential proximity to a regional industrial park including a national toxic waste site: An ecological study

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    Polyakov Marina

    2006-03-01

    Full Text Available Abstract Background Public concern about exposure to emissions from the regional industrial park (IP, including 17 chemical plants and the national industrial toxic waste site, initiated this study of the possible association between major congenital malformations (MCM and residence near the IP in Israel's Southern District. Methods The study was conducted during the period 1995–2000 and included 63,850 deliveries. Data on deliveries and MCM detected at births were obtained from the regional medical center, and stratified by ethnicity and type of locality. As exposure indicator we used distance categories (proximal and distant and predominant wind direction from the IP. Distance stratification was based on the geographical distribution of the localities and complaints about the odor related to IP emissions. Based on these complaints, localities up to 20 km from the IP were considered proximal to the IP. Results Average rates of MCM were 5.0% and 4.1% for Bedouin and Jewish newborns, respectively. The rate of MCM for Bedouin from proximal localities was significantly greater compared with distant localities (5.6% vs. 4.8%; RR = 1.17 with 95% CI: 1.04–1.29. In the proximal Bedouin permanent localities, the MCM rate reached 8.2 %, which was significantly higher than in distant areas (RR = 1.63, 95% CI: 1.39–1.80. Significant risk increase of central nervous system MCM was found in these localities, compared to distant ones (RR = 2.27, 95% CI: 1.44–3.60. Among newborns from the traditional tribal settlements, proximity to the IP was associated with increased rates of the following MCM: 1 all combined, 2 those associated with chromosomal abnormalities, and 3 those defined as "others unclassified MCM." Comparison of autosomal recessive disease rates by proximity to the IP in Bedouin newborns indicates that the observed increased risk of MCM is not explained by consanguineous marriages. The rates of MCM in the Jewish population were similar among "exposed" and "unexposed" inhabitants. Conclusion Residential proximity to the IP is associated with increased rates of MCM among Arab-Beduin but not in Jewish populations. These observations indicate the need for public health protection of a vulnerable society in transition, although the relative importance of chemical exposure and health care utilization requires further study.

  15. Cancer risks in children with congenital malformations in the nervous and circulatory system-A population based cohort study

    DEFF Research Database (Denmark)

    Sun, Yuelian; Overvad, Kim

    2014-01-01

    AIM: We estimated the age and organ-specific cancer risk for children with a congenital malformation (CM) in the nervous or in the circulatory system. METHODS: We identified 1,709,456 live born singletons in Denmark between 1 January 1977 and 31 December 2007 and excluded children with chromosomal birth defects. Information on CMs was obtained from the Danish National Hospital Register. Information on cancer occurrence was obtained from the Danish Cancer Registry. We applied Cox proportional hazards regression model to estimate hazard ratios (HR) for cancer. Children entered into the CM cohort on the day of birth regardless of when the CM was diagnosed or on the day of CM diagnosis in an alternative analysis. RESULTS: Overall, 4484 (0.26%) and 24,643 (1.44%) children were diagnosed with a CM in the nervous and in the circulatory system, respectively. Compared with children without any CM, children with a CM in the nervous system had a 5.97 fold (95%CI [confidence interval]: 4.66-7.64) higher risk of cancer,including cancer in the central nervous system (HR=18.84, 95%CI: 12.67-28.01), in the mesothelial and soft tissue (HR=15.64, 95%CI: 7.99-30.60), in the skin (HR=4.91, 95%CI: 2.19-11.0). The associations were stronger early in life. Children with a CM in the circulatory system had a 2.64 fold (95%CI: 2.21-3.16) higher risk of cancer, including cancer in the lymphatic and haematopoietic tissues (HR=3.22, 95%CI: 2.43-4.27) and cancer in the CNS (HR=2.40, 95%CI: 1.43-4.02). Some of these associations were weaker in the alternative analysis. Children with subtypes of CM in the two systems showed a higher cancer risk. CONCLUSIONS: Children who were diagnosed with a CM in the nervous system had a substantially higher cancer risk especially early in life. Children diagnosed with a CM in the circulatory system had a moderately higher cancer risk.

  16. Aortic arch malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kellenberger, Christian J. [University Children' s Hospital, Department of Diagnostic Imaging, Zuerich (Switzerland)

    2010-06-15

    Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

  17. Congenital scoliosis

    OpenAIRE

    Arlet, V.; Odent, Th.; Aebi, M.

    2003-01-01

    Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development, and associated malformations (heart, spinal cord, kidney...) are frequently observed. A perfect understanding of the natural history of the deformity and the treatment principles will allow b...

  18. As malformações congênitas nas internações dos hospitais de Ribeirão Preto, SP, Brasil / Congenital malformations in hospital admissions in Ribeirão Preto, State of S. Paulo, Brazil

    Scientific Electronic Library Online (English)

    Joaquín Eugenio, Paz; Manildo, Fávero; Juan Stuardo Yazlle, Rocha; Nagib, Haddad.

    1978-09-01

    Full Text Available São apresentados os dados sobre internações por malformações congênitas registradas pelo Centro de Processamento de Dados Hospitalares do Departamento de Medicina Social da Faculdade de Medicina de Ribeirão Preto, USP, desde 19 de janeiro de 1970 a 30 de julho de 1974 em sete estabelecimentos hospit [...] alares. Tais internações participam com 1,48% no total de internações, excluindo-se as causas acidentais. Encontrou-se que as distribuições de diagnósticos principais e secundários classificados por tipo de malformação são significantemente diferentes; descreveu-se a participação de cada estabelecimento nestas internações. Do mesmo modo, encontrou-se um incremento significativo na percentagem de internações por malformações congênitas com o transcurso de tempo, o que é atribuído ao Hospital das Clínicas exclusivamente. Apresentou-se a percentagem de mortalidade por diagnóstico, as razões de sexo e a duração média das internações, encontrando-se nesta última que é maior que a média do total de internações. Descreveu-se também a realização de procedimentos cirúrgicos, a distribuição por idades e a procedência dos pacientes com malformações congênitas, sugerindo que os hospitais de Ribeirão Preto funcionem como centros de referência para o tratamento e a correção dessas anomalias. Abstract in english Data on admissions due to congenital malformations recorded by the Social Medicine Department Processing Center of Hospital Data, Ribeirão Preto School of Medicine, USP, registered by seven Hospitals between January 1st 1970 and July 30th 1974, are presented. These admissions represent 1.48% of the [...] total of admissions, excluding accidents. The contribution of each hospital to these admissions is described. The distributions of the main and secondary diagnosis classified by the type of malformation were compared and showed a significant difference. A significant increase of percentages of admissions with diagnosis of congenital malformation was found throughout the years, this trend being only due to the Hospital das Clínicas. The mortality percentage, the sex ratio and the mean time of admission were also analyzed, and a significant increase was found for the latest. The analysis of surgical procedures, age distribution and patients' place of residence suggest that the hospitals in Ribeirão Preto are serving as reference centers for treatment and correction of congenital malformations.

  19. Congenital Vascular Malformation

    Science.gov (United States)

    ... them, can be greatly improved in appearance by plastic surgery, but this is only occasionally needed and can ... be planned according to a child’s growth and development. Often it is better to delay ... significant and justify surgery, only 10-15 percent are removed. Removing even ...

  20. Comportamiento de algunos factores de riesgo para malformaciones congénitas mayores en el municipio de Ranchuelo / Behavior of some risk factors for major congenital malformations in Ranchuelo municipality

    Scientific Electronic Library Online (English)

    Noel, Taboada Lugo; Clara, León Mollinedo; Suyén, Martínez Chao; Olga, Díaz Inufio; Katia, Quintero Escobar.

    2006-08-01

    Full Text Available Se define como malformación congénita mayor a los defectos que tienen un compromiso funcional o estético importante para la vida del individuo, por lo que tienen consecuencias médicas, requieren de atención temprana, algunas veces de urgencia y, por tanto, tienen también repercusión psicosocial. Se [...] realizó un estudio analítico de casos y controles con el objetivo de clasificar las malformaciones congénitas mayores que incidieron en la mortalidad infantil o fetal en el municipio de Ranchuelo, en el período de enero de 1999 a diciembre de 2003, para determinar la efectividad de los diferentes métodos de diagnóstico prenatales e identificar los factores de riesgo que se asociaron a estas. El universo de trabajo quedó constituido por 25 casos (21 mujeres con historia de interrupción de la gestación por causa genética y 4 con antecedentes de al menos un hijo(a) fallecido por malformaciones congénitas) y se seleccionó igual cantidad de controles. Las malformaciones que más incidieron fueron las del sistema nervioso, digestivo y genitourinario. La efectividad del ultrasonido en el diagnóstico prenatal fue de 88 % y cuando se combinó con la cuantificación de Alfafeto proteína en suero materno, fue de un 100 % para el diagnóstico de los defectos congénitos abiertos. Los factores de riesgo que se asociaron con las malformaciones fueron los antecedentes familiares de estos defectos, los hábitos tóxicos y los antecedentes de amenaza de aborto, con un riesgo atribuible de 0.46, 0.37 y 0.32, respectivamente. Se hacen recomendaciones. Abstract in english Congenital malformation is defined as the defects having an important functional or aesthetic compromise for the individual's life, so they have medical consequences, require early attention, sometimes of emergency and, therefore, they also have a psychosocial impact. An analytical case-control stud [...] y was conducted aimed at classifying the major congenital malformations influencing on children or fetal mortality in Ranchuelo municipality from January 1999 to December 2003 to determine the effectivity of the different prenatal diagnostic methods and to identify the risk factors associated with them. The working universe was composed of 25 cases (21 women with history of abortion due to genetic cause and 4 with previous history of at least a dead child as a result of congenital malformations). The same number of controls was selected. The malformations affecting the most were those of the nervous, digestive and genitourinary system. The efficacy of ultrasound in the prenatal diagnosis was 88 %, and when it was combined with the quantification of alpha fetoprotein in maternal serum it was 100 % for the diagnosis of the open congenital defects. The risk factors associated with malformations were previous family history of these defects, the toxic habits and the antecedents of threatened abortion with an attributable risk of 0.46, 0.37 and 0.32, respectively. Recommendations were made.

  1. Comportamiento de algunos factores de riesgo para malformaciones congénitas mayores en el municipio de Ranchuelo Behavior of some risk factors for major congenital malformations in Ranchuelo municipality

    Directory of Open Access Journals (Sweden)

    Noel Taboada Lugo

    2006-08-01

    Full Text Available Se define como malformación congénita mayor a los defectos que tienen un compromiso funcional o estético importante para la vida del individuo, por lo que tienen consecuencias médicas, requieren de atención temprana, algunas veces de urgencia y, por tanto, tienen también repercusión psicosocial. Se realizó un estudio analítico de casos y controles con el objetivo de clasificar las malformaciones congénitas mayores que incidieron en la mortalidad infantil o fetal en el municipio de Ranchuelo, en el período de enero de 1999 a diciembre de 2003, para determinar la efectividad de los diferentes métodos de diagnóstico prenatales e identificar los factores de riesgo que se asociaron a estas. El universo de trabajo quedó constituido por 25 casos (21 mujeres con historia de interrupción de la gestación por causa genética y 4 con antecedentes de al menos un hijo(a fallecido por malformaciones congénitas y se seleccionó igual cantidad de controles. Las malformaciones que más incidieron fueron las del sistema nervioso, digestivo y genitourinario. La efectividad del ultrasonido en el diagnóstico prenatal fue de 88 % y cuando se combinó con la cuantificación de Alfafeto proteína en suero materno, fue de un 100 % para el diagnóstico de los defectos congénitos abiertos. Los factores de riesgo que se asociaron con las malformaciones fueron los antecedentes familiares de estos defectos, los hábitos tóxicos y los antecedentes de amenaza de aborto, con un riesgo atribuible de 0.46, 0.37 y 0.32, respectivamente. Se hacen recomendaciones.Congenital malformation is defined as the defects having an important functional or aesthetic compromise for the individual's life, so they have medical consequences, require early attention, sometimes of emergency and, therefore, they also have a psychosocial impact. An analytical case-control study was conducted aimed at classifying the major congenital malformations influencing on children or fetal mortality in Ranchuelo municipality from January 1999 to December 2003 to determine the effectivity of the different prenatal diagnostic methods and to identify the risk factors associated with them. The working universe was composed of 25 cases (21 women with history of abortion due to genetic cause and 4 with previous history of at least a dead child as a result of congenital malformations. The same number of controls was selected. The malformations affecting the most were those of the nervous, digestive and genitourinary system. The efficacy of ultrasound in the prenatal diagnosis was 88 %, and when it was combined with the quantification of alpha fetoprotein in maternal serum it was 100 % for the diagnosis of the open congenital defects. The risk factors associated with malformations were previous family history of these defects, the toxic habits and the antecedents of threatened abortion with an attributable risk of 0.46, 0.37 and 0.32, respectively. Recommendations were made.

  2. Incidence of bovine leukocyte adhesion deficiency, complex vertebral malformation, and deficiency of uridine-5-monophosphate synthase carriers in Brazilian Girolando cattle.

    Science.gov (United States)

    Paiva, D S; Fonseca, I; Pinto, I S B; Ianella, P; Campos, T A; Caetano, A R; Paiva, S R; Silva, M V G B; Martins, M F

    2013-01-01

    Among the various hereditary diseases that have been widely studied in dairy cattle, bovine leukocyte adhesion deficiency (BLAD), deficiency of uridine-5-monophosphate synthase (DUMPS), and complex vertebral malformation (CVM) are noteworthy because of their high impact on overall herd productivity as a consequence of increased calf mortality. The aim of this study was to verify the frequency of carriers of BLAD, CVM, and DUMPS mutant alleles in cows and bulls from the National Girolando Progeny Test carried out in Brazil by using polymerase chain reaction (PCR)-restriction fragment length polymorphism and allele-specific PCR assays. A total of 777 animals were genotyped for BLAD, 783 for CVM, and 122 for DUMPS. The frequencies of carriers for BLAD and CVM were 0.77 and 1.53%, respectively, whereas no carriers of DUMPS were observed. PMID:24065661

  3. Malformaciones del sistema nervioso central en el Hospital Clínico de la Universidad de Chile y maternidades chilenas participantes en el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC) / Central nervous system malformations in Chilean hospitals participating in the Latin American Collaborative Study of congenital Malformations (ECLAMC)

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Lucía, Cifuentes O; Mariela, Rodríguez C; Mildred, Rojas N.

    2001-10-01

    Full Text Available [...] Abstract in english Background: In Chile, the rates of central nervous system congenital malformations at birth remain high, when compared with the rest of the world. Aim: To report the rates of central nervous system congenital malformations in Chilean hospitals. Material and methods: Using the ECLAMC protocol, every [...] malformed newborn or stillbirth, weighing more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. Results: The rates of central nervous system congenital malformations are higher at the University of Chile Clinical Hospital than in the rest of Chilean hospitals or Latin American Hospitals. There are significantly higher rates of anencephalia in Concepcion and spina bifida in Valdivia, Rancagua and Concepcion. In the University of Chile Clinical Hospital, global annual rates have a negative slope of -0.0259 per 1000 born alive, with a correlation coefficient of -0.125 (p

  4. Transtornos mentais maternos graves e risco de malformação congênita do bebê: uma metanálise / Severe mental illness in mothers and congenital malformations in newborns: a meta-analysis

    Scientific Electronic Library Online (English)

    Priscila Krauss, Pereira; Lúcia Abelha, Lima; Mônica Maria Ferreira, Magnanini; Leticia Fortes, Legay; Giovanni Marcos, Lovisi.

    2011-12-01

    Full Text Available O risco de ter malformações parece ser maior em bebês de mães com transtornos mentais em comparação com bebês de mães sem histórico de transtornos psiquiátricos. O objetivo deste artigo foi realizar uma metanálise dos estudos sobre a associação entre transtornos mentais maternos e malformações congê [...] nitas. A revisão consistiu na busca de artigos nas bases MEDLINE, ISIWEB, Scopus, LILACS e SciELO, utilizando-se os descritores: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". Foram localizados 108 estudos, sendo selecionados cinco artigos de acordo com os critérios estabelecidos. Estes artigos foram incluídos na metanálise, envolvendo um total de 4.194 crianças de mães com transtornos mentais e 249.548 crianças de mães sem tais transtornos. A medida combinada revelou associação significativa entre exposição a transtornos mentais maternos e risco de malformações (RR = 2,06, IC95%: 1,46-2,67). O presente estudo evidencia a relação entre saúde mental materna durante a gravidez e suas repercussões na saúde do bebê. Abstract in english The risk of congenital malformations appears to be higher in infants of mothers with mental disorders as compared to those of mothers with no history of psychiatric illness. This article presents a meta-analysis of studies on the association between maternal mental illness and congenital malformatio [...] ns. The review consisted of an article search in the MEDLINE, ISIWEB, Scopus, and SciELO databases, using the following key words: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". A total of 108 studies were identified, and five articles were selected according to the established criteria. These articles were included in a meta-analysis, involving a total of 4,194 children of mothers with mental illness and 249,548 children of mothers with no such disorders. Pooled relative risk showed a significant association between exposure to mental illness in mothers and risk of malformations in newborns (RR = 2.06, 95%CI: 1.46-2.67). The study highlights the relationship between maternal mental health during pregnancy and its effects on the infant's health.

  5. Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases

    Directory of Open Access Journals (Sweden)

    Amauri Batista da Silva

    1972-03-01

    Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a diminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados.Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapearing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

  6. Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos / Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases

    Scientific Electronic Library Online (English)

    Amauri Batista da, Silva; Aílton Antonio de, Moraes; Iran da Costa, Bessa; Wilson E., Sesana.

    1972-03-01

    Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a d [...] iminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados. Abstract in english Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapear [...] ing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

  7. Neumotórax hipertensivo como forma de presentación de una malformación adenomatoidea quística pulmonar / Tension pneumothorax as a presentation of congenital cystic adenomatoid malformation of the lung

    Scientific Electronic Library Online (English)

    Estanislao, Díaz Pumará; M. Alejandra, Mortarini.

    2013-04-01

    Full Text Available El propósito de este trabajo es examinar el caso de un paciente con una forma de presentación no habitual y grave de una patología poco frecuente, como la malformación adenomatoidea quística pulmonar. Se trata de un lactante de 50 días de vida que ingresó en la unidad de cuidados intensivos pediátri [...] cos con insuficiencia respiratoria y colapso circulatorio refractario a la expansión de volumen y los inotrópicos. La radiografía de tórax mostró una imagen radiolúcida, homogénea, en la base pulmonar derecha, que parecía corresponder a una lesión bullosa en el lóbulo inferior derecho, asociada a neumotórax homolateral. Se realizó drenaje con colocación de un tubo de avenamiento pleural y se observó una mejoría clínica posterior. Se efectuó la resección del quiste mediante lobectomía inferior derecha; el diagnóstico histopatológico fue malformación adenomatoidea quística de la vía aérea de tipo 4 (clasificación de Stocker). El paciente evolucionó favorablemente. Abstract in english The purpose of this paper is to examine the case of a 50-day-old patient with an unusual and severe presentation of a rare disease: congenital cystic adenomatoid malformation of the lung. The infant was admitted to the pediatric intensive care unit with respiratory failure and circulatory collapse r [...] efractory to intravenous fluids and inotropic drugs. Chest X-ray showed a radiolucent homogeneous image in the right lung base, suggesting bullous lesion of the right lower lobe associated with ipsilateral pneumothorax. Drainage was performed by placing a chest tube with subsequent clinical improvement. Later the cyst was resected by right lower lobectomy; the histopathological diagnosis was congenital cystic adenomatoid malformation type 4 (Stocker classification). The patient evolved favorably.

  8. Amplificação por condução óssea em malformações congênitas: benefício e satisfação Amplification by bone conduction in congenital malformations: patient benefits and satisfaction

    Directory of Open Access Journals (Sweden)

    Elaine Cristina Moreto Paccola

    2013-06-01

    Full Text Available A deficiência auditiva é um dos achados clínicos mais comuns em sujeitos com malformações de orelha. O tratamento consiste em realizar a cirurgia e/ou adaptar o aparelho de amplificação sonora por via óssea (AASI VO. A intervenção precoce é fundamental para favorecer a estimulação auditiva e desenvolvimento da fala e linguagem. OBJETIVO: Caracterizar o perfil audiológico de sujeitos com malformação congênita de orelha externa e/ou média e avaliar o benefício e a satisfação destes com o uso de AASI VO. MÉTODO: Estudo descritivo, sujeitos com malformações congênitas bilaterais de orelha externa e/ou média, deficiência auditiva condutiva ou mista, moderada ou grave e usuários de AASI VO. Avaliação do benefício utilizando teste de reconhecimento de sentenças com ruído competitivo e medidas de ganho funcional e avaliação da satisfação utilizando questionário internacional QI - AASI. RESULTADOS: Foram avaliados 13 sujeitos, sendo 61% do sexo masculino e 80% com deficiência auditiva condutiva moderada ou grave. Houve melhor desempenho na avaliação proposta na condição com AASI, quando comparada à condição sem AASI. CONCLUSÃO: Os AASI VO retroauriculares apresentaram vantagens para a população estudada e devem ser considerados como uma opção para intervenção. A satisfação foi confirmada pelos escores elevados obtidos no QI - AASI.Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO. Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To characterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle, conductive or mixed hearing loss, moderate or severe and HA VO users. Evaluation of the benefit test using sentence recognition in noise and measures of functional gain and satisfaction assessment questionnaire using international IQ - HA. RESULTS: 13 subjects were evaluated, 61% were male and 80% with moderate conductive hearing loss or severe. There was better performance in the evaluation proposal, provided with HA when compared to the condition without HA. CONCLUSION: HA VO showed advantages for the population studied and should be considered as an option for intervention. Satisfaction was confirmed by elevated scores obtained in IQ - HA.

  9. Amplificação por condução óssea em malformações congênitas: benefício e satisfação / Amplification by bone conduction in congenital malformations: patient benefits and satisfaction

    Scientific Electronic Library Online (English)

    Elaine Cristina Moreto, Paccola; João Cândido, Fernandes; Maria Fernanda Capoani Garcia, Mondelli.

    2013-06-01

    Full Text Available A deficiência auditiva é um dos achados clínicos mais comuns em sujeitos com malformações de orelha. O tratamento consiste em realizar a cirurgia e/ou adaptar o aparelho de amplificação sonora por via óssea (AASI VO). A intervenção precoce é fundamental para favorecer a estimulação auditiva e desenv [...] olvimento da fala e linguagem. OBJETIVO: Caracterizar o perfil audiológico de sujeitos com malformação congênita de orelha externa e/ou média e avaliar o benefício e a satisfação destes com o uso de AASI VO. MÉTODO: Estudo descritivo, sujeitos com malformações congênitas bilaterais de orelha externa e/ou média, deficiência auditiva condutiva ou mista, moderada ou grave e usuários de AASI VO. Avaliação do benefício utilizando teste de reconhecimento de sentenças com ruído competitivo e medidas de ganho funcional e avaliação da satisfação utilizando questionário internacional QI - AASI. RESULTADOS: Foram avaliados 13 sujeitos, sendo 61% do sexo masculino e 80% com deficiência auditiva condutiva moderada ou grave. Houve melhor desempenho na avaliação proposta na condição com AASI, quando comparada à condição sem AASI. CONCLUSÃO: Os AASI VO retroauriculares apresentaram vantagens para a população estudada e devem ser considerados como uma opção para intervenção. A satisfação foi confirmada pelos escores elevados obtidos no QI - AASI. Abstract in english Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO). Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To cha [...] racterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle, conductive or mixed hearing loss, moderate or severe and HA VO users. Evaluation of the benefit test using sentence recognition in noise and measures of functional gain and satisfaction assessment questionnaire using international IQ - HA. RESULTS: 13 subjects were evaluated, 61% were male and 80% with moderate conductive hearing loss or severe. There was better performance in the evaluation proposal, provided with HA when compared to the condition without HA. CONCLUSION: HA VO showed advantages for the population studied and should be considered as an option for intervention. Satisfaction was confirmed by elevated scores obtained in IQ - HA.

  10. Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations

    OpenAIRE

    Vergult, Sarah; van Binsbergen, Ellen; Sante, Tom; Nowak, Silke; Vanakker, Olivier; Claes, Kathleen; Poppe, Bruce; Van Der Aa, Nathalie; van Roosmalen, Markus J; Duran, Karen; Tavakoli-Yaraki, Masoumeh; Swinkels, Marielle; Van Den Boogaard, Marie-José; van Haelst, Mieke; Roelens, Filip

    2013-01-01

    Recently, microarrays have replaced karyotyping as a first tier test in patients with idiopathic intellectual disability and/or multiple congenital abnormalities (ID/MCA) in many laboratories. Although in about 14–18% of such patients, DNA copy-number variants (CNVs) with clinical significance can be detected, microarrays have the disadvantage of missing balanced rearrangements, as well as providing no information about the genomic architecture of structural variants (SVs) like duplications a...

  11. Experimental Infection of Sheep at 45 and 60 Days of Gestation with Schmallenberg Virus Readily Led to Placental Colonization without Causing Congenital Malformations

    Science.gov (United States)

    Dal Pozzo, Fabiana; De Regge, Nick; Cay, Brigitte; Saegerman, Claude

    2015-01-01

    Background Main impact of Schmallenberg virus (SBV) on livestock consists in reproductive disorders, with teratogenic effects, abortions and stillbirths. SBV pathogenesis and viral placental crossing remain currently poorly understood. Therefore, we implemented an experimental infection of ewes, inoculated with SBV at 45 or 60 days of gestation (dg). Methodology “Mourerous” breed ewes were randomly separated in three groups: eight and nine ewes were subcutaneously inoculated with 1 ml of SBV infectious serum at 45 and 60 dg, respectively (G45 and G60). Six other ewes were inoculated subcutaneously with sterile phosphate buffer saline as control group. All SBV inoculated ewes showed RNAemia consistent with previously published studies, they seroconverted and no clinical sign was reported. Lambs were born at term via caesarian-section, and right after birth they were blood sampled and clinically examined. Then both lambs and ewes were euthanatized and necropsied. Principal Findings/Significance No lambs showed any malformation suggestive of SBV infection and none of them had RNAemia or anti-SBV antibodies prior to colostrum uptake. Positive SBV RNA detection in organs was rare in both G45 and G60 lambs (2/11 and 1/10, respectively). Nevertheless most of the lambs in G45 (9/11) and G60 (9/10) had at least one extraembryonic structure SBV positive by RTqPCR. The number of positive extraembryonic structures was significantly higher in G60 lambs. Time of inoculation (45 or 60 dg) had no impact on the placental colonization success rate but affected the frequency of detecting the virus in the offspring extraembryonic structures by the time of lambing. SBV readily colonized the placenta when ewes were infected at 45 or 60 dg but infection of the fetuses was limited and did not lead to congenital malformations. PMID:26418420

  12. Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas / Frequencies of congenital malformations: assessment and prognosis of 52,744 births in three cities of Colombia

    Scientific Electronic Library Online (English)

    Ignacio, Zarante; Liliana, Franco; Catalina, López; Nicolás, Fernández.

    2010-01-01

    Full Text Available Introducción. El Instituto de Genética Humana, de la Pontificia Universidad Javeriana, desarrolla un programa de vigilancia de malformaciones congénitas con metodologías modificadas del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas. Objetivo. Describir la frecuencia de las princi [...] pales malformaciones congénitas en el país. Materiales y métodos. Entre abril de 2001 y enero de 2008, se obtuvo información sobre los pacientes con malformaciones congénitas y se analizaron la edad materna, la edad de gestación, el sexo y el peso del neonato, y la malformación congénita. Se clasificaron los casos según una escala de pronóstico para evaluar el impacto de la intervención del equipo de salud en la evolución de estos pacientes. Resultados. De 52.744 nacimientos en tres ciudades, 3,12% presentó alguna malformación congénita. Las anomalías de la oreja fueron las más frecuentes. El pie equino varo, la polidactilia y el labio y paladar hendidos, afectaron más a los pacientes de sexo masculino. El peso y la edad de gestación fueron menores en el grupo de los casos que en el de los controles. La escala de pronóstico mostró un alto riesgo de mortalidad o discapacidad en 54% de los pacientes y reveló que la intervención del equipo de salud cambia el pronóstico en más de 80% de los casos. Conclusión. Las frecuencias encontradas son similares a las del resto del mundo. La intervención del equipo de salud debe influir en el pronóstico de estas patologías. Un manejo temprano, adecuado e interdisciplinario es vital para disminuir la discapacidad y mejorar la calidad de vida de estos pacientes. Abstract in english Introduction. The Instituto de Genética Humana of the Pontificia Universidad Javeriana conducted an epidemiological surveillance of congenital malformations as defined by criteria provided by the Latin American Collaborative Study of Congenital Malformations. Objective. The frequency of the main con [...] genital malformations were tabulated for major urban centers in Colombia. Materials and methods. Information was gathered from 52,744 newborns between April 2001 and January 2008 in three cities of Colombia (Bogotá, Ubaté and Manizales). Data included the age of mother, gestational age, gender and weight of the newborn and the congenital malformation. Cases were classified according to a prognostic scale to assess the impact of health team interventions in the recovery process. Results. Congenital defects were noted in 3.1% of the newborns. The most frequent congenital defects were those of the ears. Clubfoot, polydactyly and cleft lip or palate were more common amongst males. The weight and gestational age were lower in the congenitally affected in comparison with the control group. The prognostic scale of congenital malformations indicated that most of these patients are at high risk of death or disability and that the intervention of the health team changed the patient´s prognosis in approximately 80% of the cases. Conclusion. Frequencies of congenital malformations in Colombia were similar to those reported in other countries. The interventions of the health team in treating patients with congenital malformations directly affected patient prognosis. Therefore, early diagnosis and adequate interdisciplinary treatment were recommended by these data in order to reduce disability and improve the quality of life of these patients.

  13. Mortalidad infantil por malformaciones congénitas y condición socioeconómica: el caso de la Argentina Infant mortality due to congenital malformations and socioeconomic status: the case of Argentina

    Directory of Open Access Journals (Sweden)

    Rubén A. Bronberg

    2012-06-01

    Full Text Available OBJETIVO: Relacionar la tasa de mortalidad infantil por malformaciones congénitas (TMIMC y el porcentaje de muertes por malformaciones congénitas (%MMC con las características sociodemográficas y económicas en la Argentina. MÉTODOS: La población estudiada de la Argentina reside en 511 departamentos de 23 provincias, agrupadas en cinco regiones geográficas (Noroeste, Noreste, Centro, Cuyo y Patagonía. Las variables analizadas fueron la TMLMC y el %MMC calculados a partir de los nacimientos y las defunciones del quinquenio 2002-2006. Además, se utilizaron 21 variables del Censo de Población y Vivienda del 2001 (Instituto Nacional de Estadística y Censos de Argentina para construir el Indicador Sociodemográfico y Económico (ISDE mediante el análisis de componentes principales. Se realizaron pruebas de comparación para valorar si aparecían diferencias significativas entre las distintas regiones y las correlaciones entre indicadores, y de estos con la latitud y longitud departamental. RESULTADOS: La TMIMC no presentó correlación significativa con el ISDE ni con las coor denadas geográficas. El %MMC y el ISDE presentaron una correlación positiva significativa (P OBJECTIVE: Compare the infant mortality rate due to congenital malformations ( IMRCM and the percentage of deaths due to congenital malformations (%DCM with sociodemographic and economic characteristics in Argentina. METHODS: The Argentine study population resided in 511 departments of 23 provinces, grouped into five geographic regions (Northwest, Northeast, Central, Cuyo, and Patagonia. The analyzed variables were the IMRCM and the %DCM calculated on the basis of births and deaths during 2002-2006 period. In addition, 21 variables were used from the 2001 Population and Housing Census (National Census and Statistics Institute of Argentina to construct the Sociodemographic and Economic Indicator (SDEI through the analysis of principal components. Comparison tests were carried out in order to assess the significant differences among the various regions and the correlations between indicators, and of these with the departmental latitudes and longitudes. RESULTS: There was no significant correlation between the IMRCM and the SDEI, nor with geographic coordinates. However, there was a significant positive correlation between the IMRCM and the SDEI (P < 0.05 at all levels of political organization. The SDEI explained 41% of the %DCM. CONCLUSIONS: The IMRCM was not significantly associated with the country's marked socioeconomic heterogeneity; the highest %DCM values, on the other hand, were observed in the populations of the central and southern areas of the country. Given the relationship between the %DCM and socioeconomic development of the population, use of this indicator as a proxy of well-being and quality of life is suggested.

  14. Mortalidad infantil por malformaciones congénitas y condición socioeconómica: el caso de la Argentina / Infant mortality due to congenital malformations and socioeconomic status: the case of Argentina

    Scientific Electronic Library Online (English)

    Rubén A., Bronberg; Esperanza, Gutiérrez Redomero; María C., Alonso; José E., Dipierri.

    2012-06-01

    Full Text Available OBJETIVO: Relacionar la tasa de mortalidad infantil por malformaciones congénitas (TMIMC) y el porcentaje de muertes por malformaciones congénitas (%MMC) con las características sociodemográficas y económicas en la Argentina. MÉTODOS: La población estudiada de la Argentina reside en 511 departamento [...] s de 23 provincias, agrupadas en cinco regiones geográficas (Noroeste, Noreste, Centro, Cuyo y Patagonía). Las variables analizadas fueron la TMLMC y el %MMC calculados a partir de los nacimientos y las defunciones del quinquenio 2002-2006. Además, se utilizaron 21 variables del Censo de Población y Vivienda del 2001 (Instituto Nacional de Estadística y Censos de Argentina) para construir el Indicador Sociodemográfico y Económico (ISDE) mediante el análisis de componentes principales. Se realizaron pruebas de comparación para valorar si aparecían diferencias significativas entre las distintas regiones y las correlaciones entre indicadores, y de estos con la latitud y longitud departamental. RESULTADOS: La TMIMC no presentó correlación significativa con el ISDE ni con las coor denadas geográficas. El %MMC y el ISDE presentaron una correlación positiva significativa (P Abstract in english OBJECTIVE: Compare the infant mortality rate due to congenital malformations ( IMRCM) and the percentage of deaths due to congenital malformations (%DCM) with sociodemographic and economic characteristics in Argentina. METHODS: The Argentine study population resided in 511 departments of 23 province [...] s, grouped into five geographic regions (Northwest, Northeast, Central, Cuyo, and Patagonia). The analyzed variables were the IMRCM and the %DCM calculated on the basis of births and deaths during 2002-2006 period. In addition, 21 variables were used from the 2001 Population and Housing Census (National Census and Statistics Institute of Argentina) to construct the Sociodemographic and Economic Indicator (SDEI) through the analysis of principal components. Comparison tests were carried out in order to assess the significant differences among the various regions and the correlations between indicators, and of these with the departmental latitudes and longitudes. RESULTS: There was no significant correlation between the IMRCM and the SDEI, nor with geographic coordinates. However, there was a significant positive correlation between the IMRCM and the SDEI (P

  15. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

    2010-06-15

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  16. A Rare Case of Acroangiodermatitis Associated with a Congenital Arteriovenous Malformation (Stewart-Bluefarb Syndrome) in a Young Veteran: Case Report and Review of the Literature.

    Science.gov (United States)

    Archie, Mark; Khademi, Saieh; Aungst, David; Nouvong, Aksone; Freeman, Shanna; Gelabert, Hugh; Rigberg, David; deVirgilio, Christian; Lewis, Michael; O'Connell, Jessica

    2015-10-01

    Acroangiodermatitis (AD) is a rare angioproliferative disease manifesting with cutaneous lesions clinically similar to Kaposi's sarcoma. AD is a benign hyperplasia of preexisting vasculature and may be associated with acquired or congenital arteriovenous malformations (AVM), or severe chronic venous insufficiency (because of hypostasis, elevated venous pressure, arteriovenous shunting). Stewart-Bluefarb syndrome is the rare syndrome in which AD is associated with a congenital AVM. We present the case of a young veteran with a painful, chronic nonhealing ulcer and ipsilateral popliteal artery occlusion likely because of trauma, who elected transmetatarsal amputation for symptomatic relief. A 24-year-old male veteran presented with a 5-year history of a nonhealing dorsal left foot ulcer, resulting from a training exercise injury. He ultimately developed osteomyelitis requiring antibiotics, frequent debridements, multiple trials of unsuccessful skin substitute grafting, and severe unremitting pain. He noted a remote history of left digital deformities treated surgically as a child, and an AVM, previously endovascularly treated at an outside facility. Arterial duplex revealed somewhat dampened left popliteal, posterior tibial (PT), and dorsalis pedis (DP) artery signals with arterial brachial index of 1.0. CT angiography showed occlusion of the proximal to mid popliteal artery with significant calcifications felt initially to be a result of prior trauma. Pedal pulses were palpable and transcutaneous oxygen measurements revealed adequate oxygenation. Because of unremitting pain, the patient opted for amputation. Pathology revealed vascular proliferation consistent with AD. This case illustrates an unusual diagnosis of acroangiodermatitis, and a rare syndrome when associated with his underlying AVM (Stewart-Bluefarb syndrome). This resulted in a painful, chronic ulcer and was further complicated by trauma-related arterial occlusive disease. AD disease can hinder wound healing even in the presence of clinically evident blood flow. Although rare, such unusual diagnoses should be entertained particularly in the unusually young vascular surgical patient. PMID:26100590

  17. Impacto psicológico en las gestantes ante diagnóstico de un defecto congénito fetal / Psychological impact in pregnants on the presence of a fetal congenital malformation

    Scientific Electronic Library Online (English)

    Migdalia de las Mercedes, Peña Abraham; Eddy LL, González Ungo; Reinaldo, Menéndez García; Onilda, Morera Betancourt.

    2006-04-01

    Full Text Available Se realizó un estudio prospectivo analítico en 100 gestantes de la provincia de Pinar del Río, a las que se les diagnosticó prenatalmente un defecto congénito fetal. El estudio se realizó desde el primero de marzo del 2002 hasta el 31 de diciembre del 2004. El diagnóstico se realizó utilizando algun [...] os de los procedimientos siguientes: ecografía fetal, alfafetoproteína, cariotipo de células fetales en líquido amniótico y estudio molecular. Una vez realizado el diagnóstico se les brindó asesoramiento genético por un personal especializado, y posteriormente se analizaron las etapas psicológicas por las que atravesó la gestante, que en nuestro estudio resultaron ser: negación, depresión y aceptación. Abstract in english A prospective-analytic study was carried out in 100 pregnants from Pinar del Río province, who were antenatally diagnosed of having a fetal congenital malformation. The study took place from March 1st 2002 to December 31st 2004. The diagnosis was performed using some of the following procedures: fet [...] al ultrasound, alpha-fetoprotein, kariotype of fetal cells in amniotic fluid and molecular study. Once the diagnosis was established, genetic advice was offered by experts and subsequently psychological stages of pregnants were analyzed, being present. negation, depression and acceptance.

  18. Impacto psicológico en las gestantes ante diagnóstico de un defecto congénito fetal Psychological impact in pregnants on the presence of a fetal congenital malformation

    Directory of Open Access Journals (Sweden)

    Migdalia de las Mercedes Peña Abraham

    2006-04-01

    Full Text Available Se realizó un estudio prospectivo analítico en 100 gestantes de la provincia de Pinar del Río, a las que se les diagnosticó prenatalmente un defecto congénito fetal. El estudio se realizó desde el primero de marzo del 2002 hasta el 31 de diciembre del 2004. El diagnóstico se realizó utilizando algunos de los procedimientos siguientes: ecografía fetal, alfafetoproteína, cariotipo de células fetales en líquido amniótico y estudio molecular. Una vez realizado el diagnóstico se les brindó asesoramiento genético por un personal especializado, y posteriormente se analizaron las etapas psicológicas por las que atravesó la gestante, que en nuestro estudio resultaron ser: negación, depresión y aceptación.A prospective-analytic study was carried out in 100 pregnants from Pinar del Río province, who were antenatally diagnosed of having a fetal congenital malformation. The study took place from March 1st 2002 to December 31st 2004. The diagnosis was performed using some of the following procedures: fetal ultrasound, alpha-fetoprotein, kariotype of fetal cells in amniotic fluid and molecular study. Once the diagnosis was established, genetic advice was offered by experts and subsequently psychological stages of pregnants were analyzed, being present. negation, depression and acceptance.

  19. Health audit survey in the high level natural radiation areas of Kerala coast: prevalence of congenital malformations, late onset diseases and untoward pregnancy outcomes in the study area

    International Nuclear Information System (INIS)

    A total population of 2,52,735 was surveyed (1,24,246 males, 1,28,489 females; (sex ratio 1000:1034). congenital malformation was reported among 2951 individuals with a frequency of 1.17%. The percentage of individuals with birth defects ranged from 1% in Oachira to 1.46% in Neendakara. At least one of the late onset diseases were reported in 33,199 (13.14%) individuals. Percentage of individuals with any of the late onset diseases ranged from 10.7% in Panmana to 17.9% in Alappad. The distribution of birth defects is the eight panchayats is similar (both Kruskal Wallis and median test P > .20) whereas the distribution of late onset disease does not appear to be similar in all the panchayats (Kruskal Wallis chi-square with 7 d.f = 32.3, P < .001; median test chi-square with 7 d.f. = 15.1; P= .035). The frequency of late onset diseases among males and females in different age groups suggest that females in the age group of 30-59 report more late onset disease than their male counterparts

  20. Mercury pollution and congenital malformations detected at birth in Porto Velho, Brazil, from 1997 to 2007 Contaminación por mercurio y las malformaciones congénitas detectadas en el nacimiento en Porto Velho, Brasil, entre 1997 y 2007

    Directory of Open Access Journals (Sweden)

    Julio Cesar da Rocha

    2011-12-01

    Full Text Available The possible negative impacts of mercury contamination in the Madeira river, State of Rondonia, Brazil, on newborn babies health were evaluated. The incidence of congenital malformations was surveyed from the records of newborns in the main hospital of Porto Velho, Rondonia, from 1997 to 2007. The type of malformations between local population and cases transferred from other areas in Rondonia were compared. Neurological related malformations were found in 45% of the cases. The proportion of neurological defects in the local population was slightly higher than in transferred cases. Non-neurological malformations represented 43% of the sample and, 11.4% were unspecified. The incidence of general (including non-neurological congenital malformations was similar to the region's average. This is indicative of Hg contamination during pregnancy. Salud UIS 2011; 43 (3: 237-240Los posibles impactos negativos de la contaminación por mercurio en el río Madeira, Estado de Rondonia, Brasil, en la salud de los bebés recién nacidos fueron evaluados. La incidencia de malformaciones congénitas fue examinado en los registros de los recién nacidos en el principal hospital de Porto Velho, Rondonia, de 1997 a 2007. El tipo de malformaciones entre la población local y los casos transferidos de otras zonas de Rondonia fueron comparados. Malformaciones neurológicas relacionadas se encontraron en el 45% de los casos. La proporción de defectos neurológicos en la población local fue levemente superior en los casos transferidos. Malformaciones non neurológicas representó el 43% de la muestra y, el 11,4% sin especificar. La incidencia de la general (incluyendo non neurológicas malformaciones congénitas fue similar al promedio de la región. Esto es indicativo de contaminación de mercurio durante el embarazo. Salud UIS 2011; 43 (3: 237-240

  1. Mercury pollution and congenital malformations detected at birth in Porto Velho, Brazil, from 1997 to 2007 / Contaminación por mercurio y las malformaciones congénitas detectadas en el nacimiento en Porto Velho, Brasil, entre 1997 y 2007

    Scientific Electronic Library Online (English)

    Julio Cesar, da Rocha; Rafael S., Maior; Carlos, Tomaz.

    2011-12-01

    Full Text Available Los posibles impactos negativos de la contaminación por mercurio en el río Madeira, Estado de Rondonia, Brasil, en la salud de los bebés recién nacidos fueron evaluados. La incidencia de malformaciones congénitas fue examinado en los registros de los recién nacidos en el principal hospital de Porto [...] Velho, Rondonia, de 1997 a 2007. El tipo de malformaciones entre la población local y los casos transferidos de otras zonas de Rondonia fueron comparados. Malformaciones neurológicas relacionadas se encontraron en el 45% de los casos. La proporción de defectos neurológicos en la población local fue levemente superior en los casos transferidos. Malformaciones non neurológicas representó el 43% de la muestra y, el 11,4% sin especificar. La incidencia de la general (incluyendo non neurológicas) malformaciones congénitas fue similar al promedio de la región. Esto es indicativo de contaminación de mercurio durante el embarazo. Salud UIS 2011; 43 (3): 237-240 Abstract in english The possible negative impacts of mercury contamination in the Madeira river, State of Rondonia, Brazil, on newborn babies health were evaluated. The incidence of congenital malformations was surveyed from the records of newborns in the main hospital of Porto Velho, Rondonia, from 1997 to 2007. The t [...] ype of malformations between local population and cases transferred from other areas in Rondonia were compared. Neurological related malformations were found in 45% of the cases. The proportion of neurological defects in the local population was slightly higher than in transferred cases. Non-neurological malformations represented 43% of the sample and, 11.4% were unspecified. The incidence of general (including non-neurological) congenital malformations was similar to the region's average. This is indicative of Hg contamination during pregnancy. Salud UIS 2011; 43 (3): 237-240

  2. Isolated congenital urethrocutaneous fistula.

    Science.gov (United States)

    Akman, R Yavuz; Cam, Kamil; Akyuz, Osman; Erol, Ali

    2005-04-01

    Congenital urethrocutaneous fistula of the male urethra is an extremely rare anomaly that is commonly seen in association with anorectal malformations or chordee. A case of congenital urethrocutaneous fistula not associated with other congenital anomalies is reported, discussing possible etiologies and surgical management. PMID:15948735

  3. Tratamento cirúrgico de malformação digital congénita do membro superior / Surgical treatment of a congenital arteriovenous malformation of the upper limb

    Scientific Electronic Library Online (English)

    Nelson, Oliveira; Luiza, Ferraz; Lisa, Borges; Emanuel, Dias; Fernando, Oliveira; Isabel, Cássio.

    2014-03-01

    Full Text Available Introdução: As malformações arteriovenosas (MAV) podem ter uma apresentação clínica e evolução imprevisíveis. Por isso, o seu tratamento é ainda um desafio entre as várias patologias vasculares. MAV’s das extremidades de localização muito periférica podem não ser amenizáveis por emboloterapia devido [...] ao risco elevado de necrose. Os autores apresentam um caso clínico de uma malformação arteriovenosa congénita do membro superior que foi abordado exclusivamente por cirurgia convencional. Caso clínico: Mulher de 27 anos sem antecedentes pessoais relevantes, seguida em consulta por malformação do 5º dedo da mão direita, com agravamento progressivo de queixas de dor, impotência funcional, deformidade do dedo da mão e incapacidade laboral. A doente foi submetida a uma ressecção da malformação arteriovenosa e laqueação dos principais ramos aferentes da MAV. Após um seguimento de 8 meses, a doente apresenta a incisão cirúrgica cicatrizada, sem impotência funcional do dedo e sem evidência clínica de recidiva. Conclusões: O tratamento cirúrgico das MAV digitais do membro superior pode ser realizado de forma curativa com conservação do dedo, com resultados estéticos e funcionais favoráveis. Abstract in english Introduction: Arteriovenous malformations (AVM) have a variety of clinical presentations and may evolve in unpredictable ways. Therefore, its management is still challenging. AVM’s with very peripheral location on the extremities, embolotherapy may be contraindicated due to the risk of necrosis. The [...] authors present a clinical case in which a finger AVM was treated surgically. Clinical case: A 27 year-old woman with a known AVM affecting the 5th finger of the right hand presented progressive pain, functional and cosmetic impairment of the finger, which significantly interfered with her professional occupation. A surgical procedure consisting of ligation of all the afferent vessels with complete nidus resection was performed. After 8 months of follow-up, the patient had a fully healed surgical incision, and was without any functional limitations or signs of clinical relapse. Conclusion: Surgical treatment of AVM affecting the fingers may be accomplished in a curative way with good cosmetic and functional outcomes.

  4. Frequency of congenital craniofacial malformations in a Brazilian Reference Center / Frequência de malformações congênitas craniofaciais em um Centro de Referência Brasileiro

    Scientific Electronic Library Online (English)

    Lívia Máris Ribeiro, Paranaíba; Roseli Teixeira de, Miranda; Leila Aparecida, Ribeiro; Letízia Monteiro de, Barros; Hercílio, Martelli-Júnior.

    2011-03-01

    Full Text Available OBJETIVO: Avaliar a frequência de anomalias craniofaciais em pacientes assistidos em um Centro de Referência Brasileiro para deformidades craniofaciais. MÉTODO: Estudo retrospectivo epidemiológico avaliando os prontuários clínicos de 1.142 pacientes, sendo 656 (57,4%) do gênero masculino e 486 (42,6 [...] %) do feminino, entre os anos de 1992 e 2008. RESULTADOS: Entre os defeitos congênitos, fissura labial e/ou palatina não-sindrômica foi o mais frequente (778 casos; 68,1%), seguido por anomalias congênitas simples ou múltiplas sem fissura labial e/ou palatina (240 casos; 21%), síndromes ou sequências reconhecidas (56 casos; 5%), síndromes com fissura orofacial como um componente do quadro sindrômico (41 casos; 3,5%), e fissuras orofaciais em associação com malformações sistêmicas (27 casos; 2,4%). CONCLUSÕES: Observou-se que o defeito congênito identificado mais frequente foi a fissura labial e/ou palatina não-sindrômica, no entanto, anomalias isoladas e síndromes envolvendo as estruturas craniofaciais foram bastante encontradas. Além disso, ressalta-se a necessidade de estudos que identifiquem a frequência e os fatores de riscos associados às anomalias craniofaciais na população brasileira, a fim de que se planejem estratégias e ações integradas para o desenvolvimento de programas preventivos e de tratamento adequado. Abstract in english OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4%) male and 486 (42.6%) female, between 1992 and 20 [...] 08. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%), followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%), recognized syndromes or sequences (56 cases; 5%), syndromes with orofacial cleft as a component (41 cases; 3.5%), and orofacial clefts in association with systemic malformations (27 cases; 2.4%). CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.

  5. Cor triatriatum sinistrum: estrategia diagnóstica y terapéutica / Cor triatriatum a rare congenital cardiac malformation of diagnostic difficulty

    Scientific Electronic Library Online (English)

    Alejandro, Bolio-Cerdán; Miguel Ángel, Medina-Andrade; Patricia, Romero-Cárdenas; Sergio, Ruiz-González; Carlos Max, Luna-Valdez; Javier, González-Peña.

    2007-02-01

    Full Text Available Introducción. El cor triatriatum sinistrum es una membrana fibromuscular anómala en aurícula izquierda que la divide en 2 cavidades, con grados variables de obstrucción. Material y métodos. Estudio retrospectivo, longitudinal y descriptivo, que muestra 10 pacientes tratados en el Hospital Infantil d [...] e México Federico Gómez en 26 años, diagnosticados con ecocardiografía. Resultados. En ningún caso fue necesario realizar estudios adicionales ya que la ecocardiografía fue definitiva en el diagnóstico. La media de edad fue 16.9 meses; distribución por sexos 1:1. Dos pacientes murieron. El seguimiento a largo plazo promedió 46.8 meses en los 8 pacientes restantes. Conclusión. La ecocardiografía fue diagnóstica e identificó anomalías cardiacas congénitas asociadas. El abordaje por atriotomía derecha permitió una excelente exposición, la resección de la membrana obstructiva y la resolución de defectos asociados, demostrando ser la medida terapéutica definitiva. Esta es la serie pediátrica más grande reportada en nuestro país a la fecha. Abstract in english Introduction. We define cor triatriatum sinistrum as an anomalous fibromuscular membrane in the left atrium which divides it into 2 cavities with variable degrees of obstruction. Material and methods. In this retrospective, longitudinal and descriptive study we show a series of ten patients treated [...] at the Hospital Infantil de Mexico in a 26 year-experience diagnosed by echocardiography. Results. No additional studies were necessary. Median age was 16.9 months; sex distribution was 1:1, registering mortality in 2 patients (20%). Long-term follow-up in 8 remaining patients had a mean of 46.8 months. Echocardiography is diagnostic and identifies associated congenital cardiac anomalies; right atriotomy approach provides excellent exposure and allows resection of the obstructive membrane. It also allows resolution of associated defects and is the preferential approach. Conclusion. This is the largest pediatric series reported to date in our country.

  6. O impacto da interrupção da gravidez por mal formação congénita: a perspectiva do pai / The interruption of pregnancy due to congenital malformation: the father`s perspective

    Scientific Electronic Library Online (English)

    Lucília, Sousa; M. Graça, Pereira.

    Full Text Available Os avanços das técnicas de diagnóstico pré-natal, tornaram possível a identificação de alguns problemas de saúde do feto in-útero, e a determinação do risco da sua ocorrência, deixando aos pais a liberdade e responsabilidade de decidir acerca da saúde do feto, muito antes do seu nascimento. A comple [...] xidade de tais decisões coloca os casais numa encruzilhada, em que qualquer dos caminhos escolhidos marcará as suas vidas. As vivências do progenitor masculino têm sido quase ignoradas pelos investigadores, pelo que a experiência do pai continua a ser muito pouco conhecida. O presente estudo pretende conhecer e compreender os significados atribuídos pelo Pai à experiência de interrupção da gravidez, por anomalia fetal. Para isso recorremos a uma metodologia qualitativa (Grounded Theory). A amostra é constituída por 12 homens cujas esposas interromperam a gravidez no serviço de obstetrícia do Hospital S. Marcos em Braga. Os resultados apontam a interrupção de gravidez por malformação congénita, como uma experiência emocionalmente intensa, com um intenso envolvimento dos pais ao longo do processo. A tomada de decisão representou a confrontação de dúvidas e incertezas, de sentimentos ambivalentes e de dilemas morais, como consequência do investimento na gravidez e da relação afectiva que já existia com o feto. Os pais tendem a desvalorizar os seus sentimentos e as suas necessidades de apoio, centrando as suas preocupações na companheira. Os profissionais de saúde, na opinião dos pais, não só demonstram pouca sensibilidade face aos seus sentimentos e necessidades como constituem um obstáculo ao envolvimento do pai ao longo do processo. A partilha desta experiência com a esposa e o apoio mútuo entre o casal fortaleceu a relação. Os projectos de nova gravidez evidenciam a busca de um novo sentido de vida para estes pais. Estes resultados enfatizam a necessidade de um olhar mais atento sobre o impacto que este acontecimento tem na vida do pai e da importância dos profissionais de saúde neste processo. Abstract in english The development of prenatal diagnosis techniques have made possible the identification of some health problems in the inborn baby and the determination of the risk of such occurrence, leaving parents with the choice and responsibility of deciding about the fetus’ health long before the birth. The co [...] mplexity of such decisions places the couple in a crossroad and any of the chosen roads will impact their lives forever. The father´ s experience has been neglected by researchers and, as a result, their experience is not well known. This study aims to understand the meanings fathers give to the pregnancy interruption, due to congenital malformation, of their baby. A qualitative analysis was used (grounded theory). The sample includes 12 men whose wives terminated their pregnancy in the obstetric service of S. Marcos Hospital in Braga. Results show that pregnancy interruption due to congenital malformation is a very intense emotional experience, with a great involvement of fathers during the entire process. The decision making process required a confrontation of doubts and uncertainties, ambivalent feelings and moral dilemmas, as a consequence of the investment on the pregnancy and the emotional relationship that was already established with the baby. Fathers tend not to value their need for support, and centred all their worries on their mates. Health professionals, in their opinion, show low sensibility towards their feelings and needs and are seen as barriers to their involvement through the process. Sharing their experience with their mates and mutual support between the couple strengthen the marital relationship. The project of a new pregnancy revealed the search for a new meaning in these fathers’ lives. These results show the need to look in depth into the impact of this life event on the father´ s life and the role of health professionals in the process.

  7. Malformaciones congénitas como causa de hospitalización en una Unidad de Terapia Intensiva Neonatal / Congenital malformations as a cause of hospitalization in a Neonatal Intensive Care Unit

    Scientific Electronic Library Online (English)

    Víctor Michael, Salinas-Torres; José Alfonso, Gutiérrez-Padilla; Oscar Miguel, Aguirre-Jáuregui; Eusebio, Angulo-Castellanos.

    2012-06-01

    Full Text Available Introducción: Las malformaciones congénitas (MC) son un problema importante de salud pública y la principal causa de muerte en niños. Representan el 20% de la mortalidad infantil en el primer año de vida. Objetivo: Evaluar la contribución de las MC como causa de hospitalización en una Unidad de Tera [...] pia Intensiva Neonatal, basado en el uso de datos obtenidos de una población de neonatos. Material y métodos: Estudio descriptivo en 2,907 neonatos del año 2005-2009, evaluados y categorizados por MC a través de CIE-10, OMS, obtenido por medio del expediente clínico al ingreso a la UCINEX, Hospital Civil de Guadalajara ''Fray Antonio Alcalde''. Los resultados fueron evaluados en porcentaje y medidas de tendencia central. Resultados: Doscientos noventa y cinco neonatos (10%) presentaron MC; 67% fueron masculinos y 33%, femeninos. Mielomeningocele fue la MC más frecuente (13%), mientras que el aparato gastrointestinal fue el más afectado con 27% de las MC. Las anormalidades cromosómicas generaron la estancia intrahospitalaria más elevada (20.5 ± 5.5 días), el sistema cardiovascular presentó 34% de defunción. La mortalidad resultó en 14.2%; 60% de las MC se intervinieron quirúrgicamente y el 64.5% radicaba en la zona metropolitana del Estado de Jalisco. Conclusiones: El conocimiento de la contribución de las MC en la mortalidad neonatal es importante para la integración de medidas preventivas y planificación de estrategias eficaces de atención a la salud, especialmente en las causas, tratamiento y prevención de estos trastornos. Esta información resalta la importancia de estudiar más a fondo el reconocimiento precoz de la morbimortalidad en la población pediátrica. Abstract in english Introduction: Congenital malformations (CM) are a major public health problem and the leading cause of death in children; representing 20% of infant mortality in the first year of life. Objective: To evaluate the contribution of CM as a cause of hospitalization in a Neonatal Intensive Care Unit. Mat [...] erial and methods: We performed a retrospective, observational, transversal and descriptive study, in which we reviewed the medical records of 2,907 neonates, which entered the External Service of Neonatal Intensive Care (UCINEX) of the Hospital Civil de Guadalajara ''Fray Antonio Alcalde'', in the period 2005-2009 with the diagnostic of congenital malformations (CM) according to the WHO ICD-10. Statistics: measures of central tendency and percentages were done. Results: Two hundred ninety five infants (10.14%) had CM, 67% male and 33% female. CM myelomeningocele was the most frequent (12.9%). The gastrointestinal tract was the most affected with 27.4% of CM, chromosomal abnormalities generated more days of hospitalization (20.5 ± 5.5 days), the cardiovascular system showed 34.2% of deaths. The overall mortality was 14.2%; 60% of CM was treated surgically and 64.5% of the mothers of these infants were living in the metropolitan area of Jalisco State. Conclusions: Knowledge of the contribution of CM to neonatal mortality is important for the integration of preventive measures and plan effective strategies for its prevention, identify their causes and establish treatment. This information highlights the importance of further study of early recognition of the morbidity and mortality in the pediatric population.

  8. Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita / Malformations detected by abdominal ultrasound in children with congenital heart disease

    Scientific Electronic Library Online (English)

    Rosana Cardoso Manique, Rosa; Rafael Fabiano Machado, Rosa; José Antônio Monteiro, Flores; Eliete, Golendziner; Ceres Andréia Vieira de, Oliveira; Marileila, Varella-Garcia; Giorgio Adriano, Paskulin; Paulo Ricardo Gazzola, Zen.

    2012-12-01

    Full Text Available FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC), trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (US [...] A), comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH) para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009), com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034). No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal. Abstract in english BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), co [...] mpare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS. METHODS: We conducted a cross-sectional study with a control cohort. The cases consisted of patients with CHD admitted for the first time in a pediatric intensive care unit; the controls consisted of children without CHD who underwent AUS at the hospital shortly thereafter a case. All patients with CHD underwent AUS, high-resolution karyotype and fluorescence in situ hybridization (FISH) for microdeletion 22q11.2. RESULTS: AUS identified clinically significant abnormalities in 12.2% of the cases and 5.2% of controls (p= 0.009), with a power of significance of 76.6%. Most malformations with clinical significance were renal anomalies (10.4% in cases and 4.9% in controls; p= 0.034). In Brazil, the cost of an AUS examination for the Unified Health System is US$ 21. Since clinically significant abnormalities were observed in one in every 8.2 CHD patients, the cost to identify an affected child was calculated as approximately US$ 176. CONCLUSION: Patients with CHD present a significant frequency of abdominal abnormalities detected by AUS, an inexpensive and noninvasive diagnostic method with good sensitivity. The cost of screening for these defects is considerably lower than the cost to treat the complications of late diagnoses of abdominal malformations such as renal disease.

  9. Trimethoprim use before pregnancy and risk of congenital malformation : reanalyzed using a case-crossover design and a case-time-control design

    DEFF Research Database (Denmark)

    Sun, Yuelian; Wu, Chun Sen

    2014-01-01

    PURPOSE: Studies on the safety of drugs used during pregnancy are necessary and important but prone to bias. Using cases as their own controls can reduce bias. We used a case-crossover design and a case-time-control design to estimate the risk of congenital malformation (CM) for children born to mothers who redeemed a trimethoprim prescription shortly before pregnancy. METHODS: The study was based on all live born singletons (N?=?685?600) in Denmark whose mothers had available information on prescriptions in the Danish National Prescription Registry between 1996 and 2008. We defined 1-3?months before pregnancy as a potential risk period and 13-15?months before pregnancy as a reference period. Two other reference periods were used (7-9?months before pregnancy and months 4-6 of pregnancy). The case-crossover design is dependent on the assumption of a stable trimethoprim prescription over the study period in the source population. To estimate the trend of trimethoprim prescriptions, we used a control group comprising children without CMs. RESULTS: Both study designs showed children had a higher risk of overall CM [odds ratio of 1.66, 95% confidence interval (CI): 1.10-2.53 and 1.50, 95%CI: 0.66-3.38, respectively] if their mothers had a trimethoprim prescription in the 3?months before pregnancy and subtypes of CM for example in the musculoskeletal system, which were consistent to the previous findings from a cohort study. CONCLUSIONS: This study corroborates that trimethoprim is a potential teratogen when used 3?months before pregnancy and demonstrates the value of case-only approaches for studying, for example, adverse effects of antibiotics in reproductive epidemiology. Copyright © 2014 John Wiley & Sons, Ltd.

  10. Procesos embrionarios y malformaciones congénitas. Revisión con reporte de casos / Embryonic processes and congenital malformations. Review with case reports

    Scientific Electronic Library Online (English)

    Luis, Cervantes Parra; Alfonso, Londoño Orozco; Marco, Nieto García; Ricardo, Gutiérrez De Aguas.

    2012-06-01

    Full Text Available Los procesos fundamentales de la dinámica embrionaria en el reino animal, y particularmente en los vertebrados, obedecen a un programa genético que solo ha comenzado a comprenderse en los últimos años. Uno de los principales objetivos de los biólogos del desarrollo es develar el misterio de cómo un [...] oocito, después de ser fecundado, se transforma en un organismo multicelular. Esta dinámica requiere la activación de un complejo programa de desarrollo en el que genes específicos se expresan en una secuencia temporal precisa, y en la ubicación correcta, para dar origen a diferentes tipos de tejidos como la piel, músculos y nervios, entre otros. Mediante el estudio de mutantes en Drosophila se han identificado genes que participan en la organización del patrón de desarrollo del embrión, los cuales son activos en las hembras. Asimismo, en los últimos años, gracias a las técnicas moleculares, se han realizado grandes avances en el conocimiento de los mecanismos que controlan este intrincado proceso. Este trabajo plantea diversos aspectos relacionados con la teratogenia asociada a la gastrulación, periodo que es muy sensible a las agresiones, así como el aporte de casos y un análisis de los avances en el conocimiento de los procesos moleculares implicados en la dinámica embrionaria. Abstract in english The fundamental processes of embryonic dynamics in the animal kingdom and particularly in vertebrates are due to a genetic program that has begun to be understood in recent years. One of the developmental biologists' main goals is to unravel the mystery of how after being fertilized an oocyte become [...] s a multicellular organism. This dynamic requires activation of a complex development program in which genes are expressed in a temporal, precise sequence and in the correct location to give rise to different types of tissues such as skin, muscles and nerves among others. The genes involved in the embryo development pattern, active in females, have been identified by studying Drosophila mutants. Also, thanks to molecular techniques, advances in understanding the intricate mechanism that control this process have been significant in recent years. This work raises several issues related to teratogenicity associated with gastrulation, embryonic stage sensitive to damages. Also, this work provides study cases and a review of the progress in the understanding of molecular processes involved in embryonic dynamics.

  11. Prevalencia de malformaciones congénitas registradas en el certificado de nacimiento y de muerte fetal: México, 2009-2010 / Prevalence of congenital malformations recorded on the birth certificate and fetal death, Mexico, 2009 to 2010

    Scientific Electronic Library Online (English)

    Eduardo, Navarrete Hernández; Sonia, Canún Serrano; Aldelmo E., Reyes Pablo; María del Carmen, Sierra Romero; Javier, Valdés Hernández.

    2013-12-01

    Full Text Available Introducción. Las malformaciones congénitas son causas importantes de mortalidad infantil, enfermedad crónica y discapacidad en muchos países. La frecuencia esperada es de 2 a 3% en nacidos vivos y de 15 a 20% en muertes fetales. En México, en 2010, la mortalidad infantil ocupó el segundo lugar, con [...] una tasa de 336.3/100,000 nacimientos. El objetivo de este trabajo fue estimar la prevalencia de malformaciones congénitas en México al nacimiento y las principales causas registradas en los certificados de nacimiento y muerte fetal para el período 2009-2010. Métodos. Se conjuntaron las bases de datos del certificado de nacimiento de nacido vivos y del de muerte fetal. Resultados. La población total fue de 4'123,531 registros, 99.3% nacidos vivos y 0.7% muertes fetales. Se registró un total de 30,491 casos de malformaciones congénitas en 91.7% nacidos vivos y 8.3% muertes fetales. La prevalencia fue de 73.9/10,000 nacimientos. Conclusiones. La tasa de prevalencia fue más baja que la esperada. Se requieren programas de validación y capacitación para fortalecer estos sistemas de registro. Abstract in english Background. Congenital malformations are a main cause of infant death, chronic illness and disability in several countries. The expected frequency is ~2-3% in live newborns and ~15-20% in stillbirths. In 2010 in Mexico, infant mortality ranked in second place with a rate of 336.3/100,000 births. In [...] order to estimate prevalence and main causes of congenital malformations in live births and stillbirths, national base registries of newborns and stillbirths were evaluated for 2009-2010. Methods. Databases of neonatal live births and fetal deaths were combined. Results. From a total population of 4,123,531 certificates, 99.3% were live born and there were 0.7% fetal deaths. Congenital malformations were registered in 30,491 cases, 91.7% of live newborns and 8.3% of fetal deaths with a prevalence rate of congenital malformations of 73.9/10,000. Conclusions. The reported prevalence was lower than expected. It is necessary to enforce registry systems through system validation and training of personnel.

  12. Prevention of congenital malformations and other adverse pregnancy outcomes with 4.0 mg of folic acid: community-based randomized clinical trial in Italy and the Netherlands

    Science.gov (United States)

    2014-01-01

    Background In 2010 a Cochrane review confirmed that folic acid (FA) supplementation prevents the first- and second-time occurrence of neural tube defects (NTDs). At present some evidence from observational studies supports the hypothesis that FA supplementation can reduce the risk of all congenital malformations (CMs) or the risk of a specific and selected group of them, namely cardiac defects and oral clefts. Furthermore, the effects on the prevention of prematurity, foetal growth retardation and pre-eclampsia are unclear. Although the most common recommendation is to take 0.4 mg/day, the problem of the most appropriate dose of FA is still open. The aim of this project is to assess the effect a higher dose of peri-conceptional FA supplementation on reducing the occurrence of all CMs. Other aims include the promotion of pre-conceptional counselling, comparing rates of selected CMs, miscarriage, pre-eclampsia, preterm birth, small for gestational age, abruptio placentae. Methods/Design This project is a joint effort by research groups in Italy and the Netherlands. Women of childbearing age, who intend to become pregnant within 12 months are eligible for the studies. Women are randomly assigned to receive 4 mg of FA (treatment in study) or 0.4 mg of FA (referent treatment) daily. Information on pregnancy outcomes are derived from women-and-physician information. We foresee to analyze the data considering all the adverse outcomes of pregnancy taken together in a global end point (e.g.: CMs, miscarriage, pre-eclampsia, preterm birth, small for gestational age). A total of about 1,000 pregnancies need to be evaluated to detect an absolute reduction of the frequency of 8%. Since the sample size needed for studying outcomes separately is large, this project also promotes an international prospective meta-analysis. Discussion The rationale of these randomized clinical trials (RCTs) is the hypothesis that a higher intake of FA is related to a higher risk reduction of NTDs, other CMs and other adverse pregnancy outcomes. Our hope is that these trials will act as catalysers, and lead to other large RCTs studying the effects of this supplementation on CMs and other infant and maternal outcomes. Trial registration Italian trial: ClinicalTrials.gov Identifier: NCT01244347. Dutch trial: Dutch Trial Register ID: NTR3161. PMID:24884885

  13. Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes / Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment

    Scientific Electronic Library Online (English)

    Jazmín, Arteaga-Vázquez; Leonora, Luna-Muñoz; Osvaldo M, Mutchinick.

    2012-12-01

    Full Text Available OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC) en hijos de madres epilépticas (HME) tratadas y no tratadas con anticonvulsivantes, la posible correlación anticonvulsivante/MC y la asociación con otras alteraciones del desarrollo. MATERIAL Y MÉTODOS: Estudio multicéntrico [...] de casos y controles en 166 recién nacidos vivos HME identificados en 21 501 recién nacidos con MC y respectivos controles del Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTADOS: La frecuencia de MC en HME tratadas fue mayor, (48.3%) que en HME no tratadas (28.3%); (RM= 2.37 IC95% 1.08-5.40), p=0.03. Las MC más frecuentes fueron espina bífida, anomalías en reducción de miembros, labio/paladar hendido, microcefalia, anotia/microtia, hipospadias, paladar hendido, polidactilia, anoftalmia/microftalmia y onfalocele. No hubo diferencias entre uso de mono o politerapia. La difenilhidantoína, carbamazepina y ácido valproico fueron los anticonvulsivantes más utilizados. CONCLUSIONES: Los resultados confirman la teratogenicidad propia de la epilepsia y el efecto sinérgico de ciertos anticonvulsivantes, lo que evidencia la necesidad de un apropiado control periconcepcional de esta enfermedad y su tratamiento. Abstract in english OBJECTIVE: To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. MATERIALS AND METHODS: Multicenter case-control study, i [...] n 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTS: The frequency of CM in NEM treated with anticonvulsants was higher (48.3%) than in NEM of untreated mothers (28.3%), (OR= 2.37 IC95% 1.08-5.40), p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. CONCLUSIONS: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

  14. Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment

    Directory of Open Access Journals (Sweden)

    Jazmín Arteaga-Vázquez

    2012-12-01

    Full Text Available OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC en hijos de madres epilépticas (HME tratadas y no tratadas con anticonvulsivantes, la posible correlación anticonvulsivante/MC y la asociación con otras alteraciones del desarrollo. MATERIAL Y MÉTODOS: Estudio multicéntrico de casos y controles en 166 recién nacidos vivos HME identificados en 21 501 recién nacidos con MC y respectivos controles del Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE. RESULTADOS: La frecuencia de MC en HME tratadas fue mayor, (48.3% que en HME no tratadas (28.3%; (RM= 2.37 IC95% 1.08-5.40, p=0.03. Las MC más frecuentes fueron espina bífida, anomalías en reducción de miembros, labio/paladar hendido, microcefalia, anotia/microtia, hipospadias, paladar hendido, polidactilia, anoftalmia/microftalmia y onfalocele. No hubo diferencias entre uso de mono o politerapia. La difenilhidantoína, carbamazepina y ácido valproico fueron los anticonvulsivantes más utilizados. CONCLUSIONES: Los resultados confirman la teratogenicidad propia de la epilepsia y el efecto sinérgico de ciertos anticonvulsivantes, lo que evidencia la necesidad de un apropiado control periconcepcional de esta enfermedad y su tratamiento.OBJECTIVE: To determine the prevalence at birth and type of congenital malformations (CM in newborns of epileptic mothers (NEM treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. MATERIALS AND METHODS: Multicenter case-control study, in 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE. RESULTS: The frequency of CM in NEM treated with anticonvulsants was higher (48.3% than in NEM of untreated mothers (28.3%, (OR= 2.37 IC95% 1.08-5.40, p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. CONCLUSIONS: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

  15. Brain Malformations

    Science.gov (United States)

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections or radiation during pregnancy interferes with brain development. Types of brain malformations include missing parts ...

  16. Genetic analysis of malformations causing perinatal mortality.

    OpenAIRE

    Young, I. D.; Rickett, A B; CLARKE, M

    1986-01-01

    An analysis of congenital malformations, other than neural tube defects, which have contributed to perinatal mortality in Leicestershire is presented for the years 1976 to 1982 inclusive. Chromosomal, single gene, or polygenic inheritance accounted for 67% of cases.

  17. Genetic analysis of malformations causing perinatal mortality.

    Science.gov (United States)

    Young, I D; Rickett, A B; Clarke, M

    1986-02-01

    An analysis of congenital malformations, other than neural tube defects, which have contributed to perinatal mortality in Leicestershire is presented for the years 1976 to 1982 inclusive. Chromosomal, single gene, or polygenic inheritance accounted for 67% of cases. PMID:3950936

  18. Supratentorial CNS malformations

    International Nuclear Information System (INIS)

    Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the pathogenetic processes leading to the disorder in a given patient. Certain anomalies previously thought to be isolated have proven to be associated with one or more other brain malformations. When one CNS malformation is found expanded scrutiny of the whole of the whole brain for further anomalies is required. Learning objectives: 1) To describe what the radiologist should know about supratentorial anatomy and embryology; 2) To discuss some of the pitfalls in MR imaging in malformations of cortical development; 3) To show the spectrum of imaging findings of supratentorial CNS malformations

  19. Congenital Fibrous Maxillomandibular Fusion

    OpenAIRE

    Bali, Rishi; Parveen SHARMA; Jain, Samit; Thapar, Deepti

    2010-01-01

    Congenital fibrous fusion of the jaws (synechiae) without any concomitant oral anomalies is a very rare malformation. Less than 40 cases have been documented in the literature. Early division of fibrous bands not only allows effective feeding but also prevents development of facial deformity. Here we present a case of congenital maxillomandibular fusion in a neonate.

  20. Interventional treatment of pulmonary arteriovenous malformations

    OpenAIRE

    Poul Erik Andersen; Anette Drøhse Kjeldsen

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the ge...

  1. Hemangiomas and Vascular Malformations: Current Theory and Management

    OpenAIRE

    Friedman, Adva B.; Gresham T. Richter

    2012-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practic...

  2. Morbilidad y mortalidad por malformaciones congénitas del sistema nervioso central en menores de un año / Morbidity and mortality caused by congenital malformations of the central nervous system in children under a year

    Scientific Electronic Library Online (English)

    Irina, Guzmán Sancho; Farah María, Ricardo Saint-Félix; Arianne, Muguercia Fornaris; Ricardo, García Álvarez; Suleidis, Vega Sams.

    2014-12-01

    Full Text Available Se realizó un estudio descriptivo, transversal y retrospectivo durante 2012 de 46 pacientes con malformaciones congénitas del sistema nervioso central, pertenecientes a la provincia de Santiago de Cuba, con vistas a caracterizar aspectos relacionados con la morbilidad y la mortalidad por esta causa. [...] El municipio Santiago de Cuba fue el de mayor incidencia y la hidrocefalia la anomalía más frecuente; asimismo, la mortalidad fetal e infantil por estos defectos presentó tasas de 0,3 y 0,1, respectivamente. Se demostró que dichas malformaciones tienen baja incidencia en estos indicadores, lo cual confirma la importancia del diagnóstico prenatal Abstract in english A descriptive, cross-sectional and retrospective study was carried out during 2012 in 46 patients with congenital malformations of the central nervous system, belonging to Santiago de Cuba province, with the aim of characterizing aspects related to the morbidity and the mortality for this cause. San [...] tiago de Cuba municipality was that of higher incidence, and hydrocephaly the most frequent anomaly; also, the fetal and child mortality obtained for these defects showed rates of 0.3 and 0.1, respectively. It was demonstrated that this malformations have low incidence in these indicators, which confirms the importance of the prenatal diagnosis

  3. HISTOLOGICAL STUDY OF NEONATAL BOWEL IN ANORECTAL MALFORMATIONS

    OpenAIRE

    Amrish Tiwari; Naik, D.C.; P. G. Khanwalkar; S. K. Sutrakar

    2014-01-01

    Anorectal malformations are the congenital condition, seen in approximately 1 in 5000 live births. It affects male and female in the ratio of 1.3:1. Anorectal malformations include a wide range of malformations, that not only involves the anus and rectum, but it also involves urinary and genital tract. Aims and objectives of the study, was to understand the structures involved in anorectal malformations by histological study of surgically excised segments of involved part of neona...

  4. Congenital malformations induced by ionizing radiation in mouse embryos: investigating molecular changes. Doctoral Thesis Prepared at SCK-CEN and Defended in 2006

    International Nuclear Information System (INIS)

    Irradiation of the mammalian embryo during development results in diverse effects depending on the dose and the specific gestational phase at irradiation. In this work cellular and molecular changes associated with X-irradiation of embryos were therefore investigated at both early and late gestational stages at the moment of radiation exposure. Our goal was to find biological markers indicative of teratogenic effects of radiation, and provide a holistic model of the impact of irradiation during early and late development. In the first part of this doctoral thesis, we investigated telomere length in the irradiated and non-irradiated embryos bearing different p53 genotypes and malformation status as telomere shortening was associated with neural tube defects in mTR-/- embryos. Moreover, the loss of telomere function has been shown to elicit DNA damage checkpoints and p53-dependent apoptosis in vitro. We conclude that telomere shortening is associated with the malformation status as well with the p53 genotype. These data assign telomere length as a potential predictor of a malformed phenotype, a feature that is modulated according to the p53 genotype and the developmental stage at the moment of irradiation. In the second part of this work, we focused on a specific malformation phenotype, namely: forelimb defect. To identify potential genes involved in the radiation-induced forelimb teratogenesis, we investigated differential gene expression between irradiated and non-irradiated fetuses using RT-q-PCR. The results indicate that forelimb defects observed in p53 wild type fetuses irradiated at the organogenesis period was due to excessive cellular death as shown by the high expression of the pro-apoptotic factors caspase-3 and Bax. This suggestion was supported by the positive TUNEL assay performed on forelimb tissue sections of malformed irradiated fetuses. Moreover, overexpression in malformed fetuses of MKK3 and MKK7, both members of the stress-activated MAP kinase family, could be involved in radiation-induced apoptosis through activation of the p38 and JNK pathways, respectively. To further evaluate the biomarker value of telomere length in this forelimb defect phenotype, we assessed telomere length in normal fetuses versus abnormal ones with forelimb defects. We found that irradiated fetuses exhibiting forelimb defects showed a marked telomere shortening confirming our first findings, which showed an association between various malformations and telomere shortening. Knowing that oxidative stress and inflammation are potential accelerators of telomere attrition, and taking into account that amniotic fluid is the most accessible fetal material, we decided to explore cytokine secretion in the amniotic fluid of normal and malformed fetuses. Our results showed a considerable inflammatory reaction among the irradiated fetuses, as revealed by the high presence of pro-inflammatory cytokines. Finally, all these results indicate that insufficiency or excess of apoptosis is probably the central process behind radiation-induced malformations. Moreover, apoptosis is strongly related to p53, which upon signaling modulates cell death response according to the developmental stage at which exposure to radiation has occurred. Furthermore, in the context of this work, telomere shortening as well as the differential gene expression described and the high pro-inflammatory cytokines measured may constitute potential indicators of the teratogenic status of the embryos after radiation exposure

  5. Controversies in choledochal malformation

    Scientific Electronic Library Online (English)

    J J, Atkinson; M, Davenport.

    2014-11-01

    Full Text Available Choledochal malformations (some of which are choledochal cysts) may be characterised as an abnormal dilatation of the biliary tract in the absence of acute obstruction. Most appear to be of congenital origin, probably related to distal bile duct stenosis, and almost 15% can now be detected antenatal [...] ly. Excision and biliary reconstruction using a Roux loop as an open operation is still the standard to compare against, although laparoscopic reconstruction is increasingly reported. This article discusses recent advances in the understanding of choledochal malformation aetiology and classification, together with the role of newer modalites of surgical treatment such as laparoscopic excision and biliary reconstruction. Although these are definitely feasible, care should be taken before dispensing with standard open techniques that have minimal complications and proven long-term benefit.

  6. Características das crianças nascidas com malformações congênitas no município de São Luís, Maranhão, 2002-2011 / Characteristics of children born with congenital malformations in São Luís, Maranhão, Brazil, 2002-2011

    Scientific Electronic Library Online (English)

    Lívia dos Santos, Rodrigues; Rômulo Henrique da Silva, Lima; Luciana Cavalcante, Costa; Rosângela Fernandes Lucena, Batista.

    2014-06-01

    Full Text Available OBJETIVO: descrever as características dos nascidos vivos com malformação congênita em São Luís-MA, Brasil, no período de 2002 a 2011. MÉTODOS: estudo descritivo baseado nos dados do Sistema de Informações sobre Nascidos Vivos (Sinasc). RESULTADOS: dos 180.298 nascidos vivos, 875 (0,49%) apresentar [...] am algum tipo de malformação, principalmente do aparelho osteomuscular (48,0%); os nascidos vivos, em sua maioria, foram a termo (83,7%), com peso adequado (76,4%), do sexo masculino (54,9%) e com escores de Apgar satisfatórios no 1o (71,3%) e 5o minutos (88,9%), nascidos de mães na faixa etária de 20 a 34 anos (71,6%), solteiras (62,5%), com 8 a 11 anos de estudo (58,7%), de gravidez única (97,9%) e por parto cesáreo (54,8%). CONCLUSÃO: observou-se aumento na frequência de casos registrados no período estudado; entretanto, sugere-se a realização de novos estudos para que seja possível esclarecer se ocorreu melhoria do sistema de notificação ou aumento dos casos. Abstract in english OBJECTIVE: to describe the characteristics of children born with congenital malformations in São Luis-MA, Brazil, between 2002-2011. METHODS: a descriptive study using data from the Live Birth Information System. RESULTS: 875 (0.49%) of the 180,298 live births in the period had some type of malform [...] ation, mostly in the musculoskeletal system. The main findings were: mothers in the 20-34 age group (71.6%), single mothers (62.5%), mothers with 8-11 years of education (58.7%), only one pregnancy (97.9%) and cesarean delivery (54.8%). Newborns were mostly term (83.7%), normal weight (76.4%), male (54.9%) and satisfactory Apgar scores at the 1st (71.3%) and 5th minute (88.9%). CONCLUSION: congenital malformations continue to be a public health problem. In this study it was observed that during the study period there was an increase in reported case frequency. However, we suggest further studies be conducted to clarify whether the notification system improved or there was an increase in cases.

  7. Anorectal malformations in children

    Directory of Open Access Journals (Sweden)

    Bhargava Pranshu

    2006-01-01

    Full Text Available Background/Purpose: Anorectal malformations are one of the most common congenital defects. This study was undertaken to study the hospital incidence of anorectal malformations (ARM, frequency of various types of defects, their sex distribution and the spectrum of anomalies associated with ARM. The effect of presence of an associated defect on mortality and morbidity was also studied. Materials and Methods: One hundred consecutive children attending the pediatric surgery department were included in this study. A detailed history was taken, and examination was performed for the primary as well as the associated defects. Appropriate investigations like invertogram, cologram were done wherever indicated. Management was as per the standard protocol. The data was recorded and analyzed. Results: Out of the 100 patients, 51 were males and 49 females. One out of every 6.62 admission was for ARM. Twenty percent of the female babies had high, 76% intermediate and 4% had low anomalies, whereas 80.39% males had high, 3.92% intermediate and 15.6% showed low malformations. Ten percent of the patients had pouch colon. Associated anomalies were seen in 33 patients - 20 males and 13 females; 19 in high, 10 in intermediate, 1 in low group and 3 children with cloacal malformations. Associated defects seen were urogenital (17%, cardiovascular (7%, gastrointestinal (9%, genital (5% and limb defects (7%. There were 8 deaths, and complications were seen in 13 patients. Ten patients had two or more defects associated with ARM. Conclusions: Anorectal malformations occurred equally in males and females. Females had intermediate defects more frequently, rectovestibular fistula being the commonest. Males were more likely to have high lesions; anorectal agenesis without fistula was the commonest defect. The most common associated defects seen were vesicoureteric reflux and esophageal atresia. Complications were seen more commonly in males with high lesions. There was a significant association between presence of an associated defect and mortality and morbidity.

  8. Anorectal malformations in neonates

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2011-01-01

    Full Text Available Background : Anorectal malformations (ARM are associated with congenital anomalies and other risk factors, yielding a poor prognosis, especially in neonatal life. Objectives: This study was performed to identify the congenital anomalies as a factor of poor prognosis (mortality in such patients. Settings: Department of Pediatric surgery, The Children?s Hospital and The Institute of Child Health, Lahore. Design: Prospective observational study, with statistical support. Materials and Methods: The information on the demography, clinical features, investigations, management performed, and outcome was entered in the designed proforma and analysed with the help of statistical software EpiInfo version 3.5.1. Statistical test: Chi-square test was used to determine statistical significance of the results. Results : Of 100 neonates with ARM, 77 were male and 23, female (3.4:1. The mean age at presentation was 3.4 days (range, 12 hrs to 28 days. In 60 patients (60%, the presentation was imperforate anus without a clinically identified fistula. In 28 patients (28%, associated anomalies were present. The common associated anomalies were urogenital (10%, cardiovascular (8%, and gastrointestinal (6%. Down?s syndrome was present in 8 (8% patients. A total of 15 (15% deaths occurred in this study. In patients having associated congenital anomalies, 11 deaths occurred, whereas, 4 deaths were in patients without associated anomalies (P < 0.5. Conclusion : The mortality is higher in neonates with ARM having associated congenital anomalies.

  9. A study on the progression of congenital scoliosis and the experimental production of the congenital scoliosis induced by 60Co irradiation in rats

    International Nuclear Information System (INIS)

    In order to clarify the pathological mechanism of the development of congenital spinal deformities, seventy six cases with congenital spinal deformity were analysed clinically, and vertebral anomalies were produced experimentally in rats of the Wistar strain by giving 60Co irradiation (200 R) to the mother in the ninth, tenth and eleventh days of the pregnancy. The congenital vertebral anomalies were classified embryologically into the following eight groups, (1) Wedge vertebra, (2) Fused wedge vertebra, (3) Hemivertebra, (4) Fused hemivertebra, (5) Unilateral segmental failure, (6) Bilateral segmental failure, (7) Butterfly vertebra and (8) Mixed type. Out of these anomalies, the unilateral segmental failure and the imbalanced multiple hemivertebrae and wedge vertebrae proved to show a marked development of the scoliotic deformities. Vertebral anomalies were confirmed in 26 of the 101 newborn infants whose mothers were treated with 60Co irradiation in the 10th or 11th day of the pregnancy. The vertebral anomalies were either unilateral segmental failure or butterfly vertebrae located mostly at the lower thoracic, lumbar or sacral spine. A scoliotic deformity of the spine developed during the rapid growth of the body in all rats with unilateral segmental failure. From the histological examinations, it was revealed that the asymmetrical potency of the growth in the malformed vertebra was a factor causing the spinal deformities. (auth.)

  10. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2014-11-15

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in those with Chiari 1 malformation. Characteristic imaging features of complex Chiari malformation, especially obex level, permit its distinction from the more common uncomplicated Chiari 1 malformation. (orig.)

  11. Características das crianças nascidas com malformações congênitas no município de São Luís, Maranhão, 2002-2011 / Characteristics of children born with congenital malformations in São Luís, Maranhão, Brazil, 2002-2011

    Scientific Electronic Library Online (English)

    Lívia dos Santos, Rodrigues; Rômulo Henrique da Silva, Lima; Luciana Cavalcante, Costa; Rosângela Fernandes Lucena, Batista.

    2014-06-01

    Full Text Available OBJETIVO: descrever as características dos nascidos vivos com malformação congênita em São Luís-MA, Brasil, no período de 2002 a 2011. MÉTODOS: estudo descritivo baseado nos dados do Sistema de Informações sobre Nascidos Vivos (Sinasc). RESULTADOS: dos 180.298 nascidos vivos, 875 (0,49%) apre [...] sentaram algum tipo de malformação, principalmente do aparelho osteomuscular (48,0%); os nascidos vivos, em sua maioria, foram a termo (83,7%), com peso adequado (76,4%), do sexo masculino (54,9%) e com escores de Apgar satisfatórios no 1o (71,3%) e 5o minutos (88,9%), nascidos de mães na faixa etária de 20 a 34 anos (71,6%), solteiras (62,5%), com 8 a 11 anos de estudo (58,7%), de gravidez única (97,9%) e por parto cesáreo (54,8%). CONCLUSÃO: observou-se aumento na frequência de casos registrados no período estudado; entretanto, sugere-se a realização de novos estudos para que seja possível esclarecer se ocorreu melhoria do sistema de notificação ou aumento dos casos. Abstract in english OBJECTIVE: to describe the characteristics of children born with congenital malformations in São Luis-MA, Brazil, between 2002-2011. METHODS: a descriptive study using data from the Live Birth Information System. RESULTS: 875 (0.49%) of the 180,298 live births in the period had some type of m [...] alformation, mostly in the musculoskeletal system. The main findings were: mothers in the 20-34 age group (71.6%), single mothers (62.5%), mothers with 8-11 years of education (58.7%), only one pregnancy (97.9%) and cesarean delivery (54.8%). Newborns were mostly term (83.7%), normal weight (76.4%), male (54.9%) and satisfactory Apgar scores at the 1st (71.3%) and 5th minute (88.9%). CONCLUSION: congenital malformations continue to be a public health problem. In this study it was observed that during the study period there was an increase in reported case frequency. However, we suggest further studies be conducted to clarify whether the notification system improved or there was an increase in cases.

  12. Congenital Cystic Lung Diseases

    OpenAIRE

    Jain, Aditi; ANAND, K; Singla, Saurabh; Kumar, Ashok

    2013-01-01

    Congenital cystic diseases of the lung are a rare but significant cause of morbidity in children and young adults presenting with respiratory distress and repeated chest infections. They consist of cystic adenomatoid malformation, bronchogenic cyst, pulmonary sequestration, and congenital lobar emphysema. Surgical treatment is a safe and an effective method of treatment. Chest X-ray and computed tomography are the key imaging modalities used for diagnosis.

  13. Congenital Cystic Lung Diseases

    Directory of Open Access Journals (Sweden)

    Aditi Jain

    2013-01-01

    Full Text Available Congenital cystic diseases of the lung are a rare but significant cause of morbidity in children and young adults presenting with respiratory distress and repeated chest infections. They consist of cystic adenomatoid malformation, bronchogenic cyst, pulmonary sequestration, and congenital lobar emphysema. Surgical treatment is a safe and an effective method of treatment. Chest X-ray and computed tomography are the key imaging modalities used for diagnosis.

  14. Obstetric outcomes in women with mullerian duct malformations

    Directory of Open Access Journals (Sweden)

    Padmasri Ramalingappa

    2014-02-01

    Conclusions: Women with congenital uterine malformation usually have higher incidence of complications during pregnancy and delivery. Early diagnosis and treatment can improve obstetric outcomes. [Int J Reprod Contracept Obstet Gynecol 2014; 3(1.000: 127-133

  15. El riesgo de malformaciones congénitas y defectos de la programación genómica, en relación con las técnicas de reproducción asistida y la clonación The risk of congenital malformations and genomic imprinting defects in assisted reproductive technologies and nuclear transfer cloning

    Directory of Open Access Journals (Sweden)

    Carlos Y Valenzuela

    2005-09-01

    Full Text Available Recent studies show that assisted reproductive technologies (ART, whether in vitro fertilization (IVF or intra-cytoplasmatic sperm injection (ICSI or applied to cloning by somatic cell nuclear transfer (SCNT are associated to a higher risk of congenital malformations and errors in deprogramming, maintenance or reprogramming genomic imprinting in humans and animals. IVF and ICSI are also associated to an increased admission to neonatal intensive care units and more need for health care resources in infancy. A mutagenic effect of a chemical used in SCNT has been reported and gene depression was found in bovine embryos obtained by IVF or SCNT. The causes of these anomalies could be pathological conditions for which ART is applied, a direct effect of technologies on the zygotes or embryos, avoidance for zygotes or embryos of the oviduct path that is needed to elicit necessary immunity or genomic programming processes, or adaptive selective steps acquired during thousands of millions of generations in evolution. The knowledge of evolution is emphasized as essential in the scientific ethical analysis (Rev Méd Chile 2005; 133: 1075-80.

  16. El riesgo de malformaciones congénitas y defectos de la programación genómica, en relación con las técnicas de reproducción asistida y la clonación / The risk of congenital malformations and genomic imprinting defects in assisted reproductive technologies and nuclear transfer cloning

    Scientific Electronic Library Online (English)

    Carlos Y, Valenzuela.

    2005-09-01

    Full Text Available [...] Abstract in english Recent studies show that assisted reproductive technologies (ART), whether in vitro fertilization (IVF) or intra-cytoplasmatic sperm injection (ICSI) or applied to cloning by somatic cell nuclear transfer (SCNT) are associated to a higher risk of congenital malformations and errors in deprogramming, [...] maintenance or reprogramming genomic imprinting in humans and animals. IVF and ICSI are also associated to an increased admission to neonatal intensive care units and more need for health care resources in infancy. A mutagenic effect of a chemical used in SCNT has been reported and gene depression was found in bovine embryos obtained by IVF or SCNT. The causes of these anomalies could be pathological conditions for which ART is applied, a direct effect of technologies on the zygotes or embryos, avoidance for zygotes or embryos of the oviduct path that is needed to elicit necessary immunity or genomic programming processes, or adaptive selective steps acquired during thousands of millions of generations in evolution. The knowledge of evolution is emphasized as essential in the scientific ethical analysis (Rev Méd Chile 2005; 133: 1075-80).

  17. Percepción de las madres con hijos afectados por malformaciones congénitas mayores: necesidad de desarrollo de un sistema de atención apropiado. Estudio cualitativo de grupos focales / Perceptions of mothers with children affected by major congenital malformations: the need to develop a system of appropriate care. Qualitative study of focus groups

    Scientific Electronic Library Online (English)

    Fernando, Suárez-Obando; Adriana, Ordóñez; Marisol, Macheta.

    2009-03-01

    Full Text Available Introducción: Las enfermedades que son en parte o totalmente determinadas por factores genéticos, asumen paulatinamente una proporción de mayor importancia dentro del perfil epidemiológico de la población infantil, convirtiéndose en una de las principales causas de mortalidad y morbilidad. La percep [...] ción de las madres de los niños afectados por malformaciones congénitas mayores no ha sido estudiada con anterioridad en relación al sistema de salud colombiano. Objetivos: Conocer las percepciones que tienen las madres de niños afectados con malformaciones congénitas, sobre la etiología de la enfermedad de sus hijos, la atención médica recibida y las posibles consecuencias de la malformación. Métodos: Estudio cualitativo descriptivo, de tipo exploratorio a través de grupos focales con madres de niños que padecen malformaciones congénitas mayores. Resultados: Las madres identificaron los problemas de atención al niño en relación al sistema de salud, al tratamiento ambivalente y excluyente del personal de salud y la necesidad de respuestas claras sobre el futuro de los niños, así como la necesidad de establecer reformas en la atención de las personas afectadas. Abstract in english Introduction: The diseases that are partly or wholly determined by genetic factors, gradually assume a ratio of greater importance in the epidemiological profile of the child population, becoming one of the leading causes of mortality and morbidity. The perception of mothers of children affected by [...] major congenital malformations has not been studied before in relation to the health system in Colombia. Objectives: To know the mother's perceptions of children with congenital malformations, on the etiology of the disease for their children, medical care received and the potential consequences of the malformation. Methods: Qualitative exploratory descriptive study of focus groups with mothers of children suffering from major congenital malformations. Results: Mothers identified the problems of child care in relation to the health system, treatment ambivalent and prejudice of health personnel and the need for clear answers on the future of children, as well as the need for reforms in the health care of people affected.

  18. Malformations of the Human Cerebral Cortex: patterns and causes

    OpenAIRE

    de Wit, M. C. Y.

    2010-01-01

    Malformations of cortical development (MCD) are a group of disorders characterized by a congenital abnormal structure of the cerebral cortex. In general, malformations are defined as structural abnormalities caused by a disturbance in cell organization or function within a tissue type. When a disturbance results in an abnormal structure of the cerebral cortex we call this: malformations of cortical development. MCD are heterogeneous as a group, as they include several different...

  19. Hemangiomas and vascular malformations: current theory and management.

    Science.gov (United States)

    Richter, Gresham T; Friedman, Adva B

    2012-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies. PMID:22611412

  20. Aneurysmal Malformation of Galen Vein: A Case Report

    OpenAIRE

    Alizadeh, A.; Sh. Yousefzadeh

    2008-01-01

    Introduction: Vein of Galen aneurismal malformation (VGAM) is a rare congenital vascular malformation Characterized by shunting of arterial flow into en-larged cerebral vein, dorsal to the tectum that consti-tute approximately 1% of all intracranial vascular le-sions, however they represent 30% of vascular mal-formations in the pediatric groups."nCase Presentation: A Ten-month old male infant pre-sented to the pediatric physician by increase in the head circumference. There were no sympt...

  1. Anorectal malformations

    OpenAIRE

    Peña Alberto; Levitt Marc A

    2007-01-01

    Abstract Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing the...

  2. Association between congenital malformation and neonatal and maternal variables in neonatal units of a Northeast Brazilian city / Associação das malformações congênitas com variáveis neonatais e maternas em unidades neonatais numa cidade do Nordeste brasileiro / Associación de las malformaciones congénitas con variables neonatais y maternas en unidades neonatales de una ciudad del Nordeste brasileño

    Scientific Electronic Library Online (English)

    Fabíola Chaves, Fontoura; Maria Vera Lúcia Moreira Leitão, Cardoso.

    2014-12-01

    Full Text Available Malformações congênitas ocorrem devido a fatores genéticos, ambientais, mistos ou causas desconhecidas. Objetivou-se investigar a existência de relação entre tipo de malformação congênita e variáveis neonatais e maternas. Estudo prospectivo, quantitativo, realizado em três unidades neonatais pública [...] s em Fortaleza-CE, Brasil. Os dados foram colhidos dos prontuários de 159 neonatos malformados, analisados por meio do teste de Qui-quadrado (?2), nível de significância de 5% (p Abstract in spanish Malformaciones congénitas ocurrir debido a factores genéticos, ambientales, mistos o por causas desconocidas. Se objetivó investigar la relación entre tipo de malformación congénita, variables neonatales y maternas. Estudio prospectivo, cuantitativo, realizado en tres unidades neonatales públicas en [...] Fortaleza-CE, Brasil. Los datos fueron recolectados del sistema de registro de 159 recién nacidos malformados y analizados por medio del test Chi cuadrado (?2), nivel de significancia de 5% (p Abstract in english Congenital malformations occur due to genetic, environmental, and mixed factors or unknown causes. This study aimed to investigate the existence of a relationship between the type of congenital malformation and maternal and neonatal variables. This prospective, quantitative study was conducted in th [...] ree public neonatal units in Fortaleza, Ceará, Brazil. Data were collected from the medical records of 159 malformed neonates and analyzed using the Chi-square test (?2), significance level of 5% (p

  3. Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study

    OpenAIRE

    Zwink Nadine; Jenetzky Ekkehart; Schmiedeke Eberhard; Schmidt Dominik; Märzheuser Stefanie; Grasshoff-Derr Sabine; Holland-Cunz Stefan; Weih Sandra; Hosie Stuart; Reifferscheid Peter; Ameis Helen; Kujath Christina; Rißmann Anke; Obermayr Florian; Schwarzer Nicole

    2012-01-01

    Abstract Background The use of assisted reproductive techniques (ART) for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malformations. Therefore, we assessed the risk of anorectal malformations (ARM) after in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Methods Data of the German Network for Congenital Uro-REctal malformations (CURE-Net) were compared to nationwide da...

  4. Eye malformations in Cameroonian children: a clinical survey

    Directory of Open Access Journals (Sweden)

    Eballé AO

    2012-10-01

    Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

  5. Congenital anomalies after assisted reproductive technology

    DEFF Research Database (Denmark)

    Pinborg, Anja; Henningsen, Anna-Karina Aaris; Malchau, Sara Sofie; Loft, Anne

    2013-01-01

    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop preventio...

  6. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

    OpenAIRE

    Norma Elena de León Ojeda; Michel Soriano-Torres; Cabrera, Mercedes J.; Dunia Bárbara Benítez Ramos

    2012-01-01

    We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chr...

  7. Imaging features of lower limb malformations above the foot.

    Science.gov (United States)

    Bergère, A; Amzallag-Bellenger, E; Lefebvre, G; Dieux-Coeslier, A; Mezel, A; Herbaux, B; Boutry, N

    2015-09-01

    Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella. PMID:25920687

  8. Vascular malformations in pediatrics

    International Nuclear Information System (INIS)

    Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.)

  9. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  10. Dose-dependent risk of malformations with antiepileptic drugs: an analysis of data from the EURAP epilepsy and pregnancy registry

    DEFF Research Database (Denmark)

    Tomson, Torbjörn; Battino, Dina

    2011-01-01

    Prenatal exposure to antiepileptic drugs is associated with a greater risk of major congenital malformations, but there is inadequate information on the comparative teratogenicity of individual antiepileptic drugs and the association with dose. We aimed to establish the risks of major congenital malformations after monotherapy exposure to four major antiepileptic drugs at different doses.

  11. Three-dimensional computed tomography in the assessment of congenital scoliosis

    Energy Technology Data Exchange (ETDEWEB)

    Bush, C.H. [Department of Radiology, University of Florida College of Medicine, Gainesville, FL (United States); Kalen, V. [Department of Orthopedics, University of Florida College of Medicine, Gainesville, FL 32610 (United States)

    1999-11-01

    Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

  12. Three-dimensional computed tomography in the assessment of congenital scoliosis

    International Nuclear Information System (INIS)

    Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

  13. [Congenital lobar emphysema].

    Science.gov (United States)

    Kienzle, H F; Vorbach, M

    1981-04-01

    Congenital lobar emphysema is mainly seen in new-born and young babies. In the first hours or days, symptoms appear such as dyspnea, cyanosis, tachypnea, wheezing, thoracic and epigastric retractions. Later symptoms are faintness, psychomotoric retardation and malformation of the thorax. Etiology and pathogenesis of this emphysema of individual parts of the lung are unclear. The course is paroxysmatic, persistent or chronic. Preferred therapy of choice is the resection of the parts concerned. After operation the prognosis is good. PMID:7227006

  14. Congenital cataract

    Science.gov (United States)

    Cataract - congenital ... Unlike most cataracts, which occur with aging, congenital cataracts are present at birth. Congenital cataracts are rare. In most patients, no cause can be found. Congenital cataracts often occur as part of ...

  15. Anorectal malformations

    Directory of Open Access Journals (Sweden)

    Peña Alberto

    2007-07-01

    Full Text Available Abstract Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.

  16. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

    Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

  17. RECTAL DUPLICATION CYST IN PREVIOUS ANORECTAL MALFORMATION AND DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    A. Burgio

    2012-12-01

    Full Text Available Gastrointestinal (GI tract duplications are rare congenital malformations. Most of them occur in the ileum and only 1-5%, of all duplication, were in the rectum. Different clinical features including chronic constipation, rectal prolapsed or polips. We report on a 4-years-old girl with Down syndrome and anorectal malformation (ARM who was found to have a rectal duplication cyst.

  18. Congenital scoliosis - Quo vadis?

    Directory of Open Access Journals (Sweden)

    Debnath Ujjwal

    2010-01-01

    Full Text Available Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions and patient?s age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the spinal surgeon in dealing with certain difficult congenital spinal deformities. The goal of growing rod treatment is to provide simultaneous deformity correction and allow for continued spinal growth. Once maximal spinal growth has been achieved, definitive fusion and instrumentation is performed.

  19. CLINICAL STUDY OF ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Umesh

    2015-01-01

    Full Text Available BACKGROUND: A norectal malformations are relatively encountered anomalies. Presentations may vary from mild to severe and bowel control is t he main concern. AIM: To study the modes of presentation , types of anomalies , associated anomalies , reliability of clinical signs and radiological investigations in the diagnosis and the prognosis and continence in the post - operative in relation to type of anomaly and associated anomaly (s. MATERIAL AND METHODS: 50 cases of anorectal malformations admit ted to Department of Paediatric Surgery , in Medical Coll ege and Research Institute , were included in the study. Data related to the objectives of the study were collected. RESULTS: Commonest mode of presentation was failure to pass meconium 50%. 59% of mal es had high anomalies , while 53% females had intermediate anomalies. The diagnosis of low anomaly was made clinically , while high and intermediate anomalies needed further investigations. Associated anomalies were noted in 46.6% of the cases. 71.42% of the se patients had either a high or intermediate ARM. All patients with high anomalies underwent a 3 stage procedure , while low anomalies underwent a single stage procedure followed by anal dilatations. Rectal mucosal prolapse (2 cases , wound infection (4 ca ses , stenosis (3 cases , retraction of neo anus (1 case was seen. All the patients with low anomalies had a good functional result post operatively , while 57% and 28% of patients with intermediate and high anomalies had good results. CONCLUSION : Anorectal malformations are common congenital anomalies. Males are more commonly affected (1.3:1. Low anomalies are the commonest lesions noted in both the sexes (36.67%. High anomalies are more frequent in males. Invertogram offer an accurate diagnosis for planning management in patients with anorectal malformations. Low anomalies have a better outcome following surgery. For intermediate and high anomalies a staged repair offers better results . The situation would improve further if MRI Imaging is more r eadily available and these children are brought for appropriate treatment at the earliest.

  20. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  1. No skeletal dysplasia in the Nariokotome boy KNM-WT 15000 (Homo erectus)--a reassessment of congenital pathologies of the vertebral column.

    Science.gov (United States)

    Schiess, Regula; Haeusler, Martin

    2013-03-01

    The Nariokotome boy skeleton KNM-WT 15000 is the most complete Homo erectus fossil and therefore is key for understanding human evolution. Nevertheless, since Latimer and Ohman (2001) reported on severe congenital pathology in KNM-WT 15000, it is questionable whether this skeleton can still be used as reference for Homo erectus skeletal biology. The asserted pathologies include platyspondylic and diminutive vertebrae implying a disproportionately short stature; spina bifida; condylus tertius; spinal stenosis; and scoliosis. Based on this symptom complex, the differential diagnosis of spondyloepiphyseal dysplasia tarda, an extremely rare form of skeletal dysplasia, has been proposed. Yet, our reanalysis of these pathologies shows that the shape of the KNM-WT 15000 vertebrae matches that of normal modern human adolescents. The vertebrae are not abnormally flat, show no endplate irregularities, and thus are not platyspondylic. As this is the hallmark of spondyloepiphyseal dysplasia tarda and related forms of skeletal dysplasia, the absence of platyspondyly refutes axial dysplasia and disproportionate dwarfism. Furthermore, we neither found evidence for spina bifida occulta nor manifesta, whereas the condylus tertius, a developmental anomaly of the cranial base, is not related to skeletal dysplasias. Other fossils indicate that the relatively small size of the vertebrae and the narrow spinal canal are characteristics of early hominins rather than congenital pathologies. Except for the recently described signs of traumatic lumbar disc herniation, the Nariokotome boy fossil therefore seems to belong to a normal Homo erectus youth without pathologies of the axial skeleton. PMID:23283736

  2. Ethanol sclerotherapy of peripheral venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

    2004-12-01

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

  3. Redundant anomalous vertebral artery in a case of congenital irreducible atlantoaxial dislocation: Emphasizing on the differences from the first intersegemental artery and operative steps to prevent injury while performing C1-2 joint manipulation.

    Science.gov (United States)

    Patra, Devi P; Salunke, Pravin S; Sahoo, Sushanta K; Ghuman, Mandeep S

    2015-10-01

    Anomalous vertebral artery (VA), commonly the persistent first intersegmental artery (FIA) is often seen with congenital atlantoaxial dislocations (AAD). An unusual redundant/ectatic loop of VA passing below the C1 (upside down VA) has been described below and appears to be different from FIA. The operative technique to protect it while C1-2 joint manipulation has been described. A 35 year old male presented with progressive spastic quadriparesis after trivial trauma. Radiology showed irreducible atlantoaxial dislocation with occipitalised C1 and C2-3 fusion. The left VA was anomalous passing beneath the C1 arch with a redundant loop lying posterior to the C1-2 joint. This was unlike the persistent first intersegmental artery (FIA) and was safeguarded while dissecting the C1-2 facet. The artery was dissected and safeguarded while performing C1-2 joint manipulation. A redundant/ectatic loop lying posterior to C1-2 joint is an unusual variant of anomalous VA. Evaluation of preoperative radiology helps in diagnosing such anomalous VA. Dissection of the entire redundant loop of the anomalous artery is important in opening the C1-2 joint required for reduction and placement of spacer/ bone grafts to achieve good bony fusion. Also mobilizing the loop allows safe insertion of lateral mass screw. Care needs to be taken while fastening screws to prevent compression of the loop. PMID:26527042

  4. New insights into craniofacial malformations.

    Science.gov (United States)

    Twigg, Stephen R F; Wilkie, Andrew O M

    2015-10-15

    Development of the human skull and face is a highly orchestrated and complex three-dimensional morphogenetic process, involving hundreds of genes controlling the coordinated patterning, proliferation and differentiation of tissues having multiple embryological origins. Craniofacial malformations that occur because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over one-third of all congenital birth defects. High-throughput sequencing has recently led to the identification of many new causative disease genes and functional studies have clarified their mechanisms of action. We present recent findings in craniofacial genetics and discuss how this information together with developmental studies in animal models is helping to increase understanding of normal craniofacial development. PMID:26085576

  5. [Obstructive azoospermia and malformations of seminal tract].

    Science.gov (United States)

    Terrone, C; Ceratti, G; Bonazzi, A; Rocca Rossetti, S; Bianchi, M

    1996-12-01

    About 10% of the cases of male infertility is represented by the obstruction of the seminal tract, which may be congenital or secondary to inflammatory events or surgery. The most frequent obstructive malformation of the seminal tract is the bilateral agenesia of the vas deferens. Such malformation is typical of the cystic fibrosis (CF), an autosomal recessive disorder determining chronic respiratory infections with bronchiectasia, and pancreatic failure. Recently the defective gene responsible for CF has been identified on the long arm of the chromosome 7. Congenital bilateral absence of the vas deferens (CBAVD) may be present in otherwise healthy males without clinical evidence of CF. Genetics studies demonstrated that most CBAVD display at least one detectable CF mutation, therefore this disease can be considered as an incomplete clinical form of CF. With the realization that a man with CBAVD may have CF, albeit a genital form, considerable care is required not only to document his specific mutations, but also to test his partner for CF mutations to evaluate the risk that their child would have CF. The association of chronic suppurating respiratory disease with obstructive azoospermia characterizes also the Young's syndrome. In this disease the obstruction could possibly be the result of defective epididymal sperm transport, related to an abnormality in the mucus. Despite some clinical common aspects, CF and Young's syndrome are two distinct entity. In fact, no CF mutations have been demonstrated in Young's syndrome. Congenital obstructive abnormalities of the vas deferens and epididymis are often associate to cryptorchidism (36-68% of the cases) and to patent processus vaginalis. The degree of testicular retention and processus vaginalis closure correlates well with the incidence of associated epididymal defects. Rare causes of congenital obstructive azoospermia are represent by the cyst of Müllerian or Wolffian origin. An obstruction to the progression of the sperm along the seminal tract can also be present in complex malformations, such as pseudohermaphroditism in which the infertility has a multifactorial etiology. PMID:9026241

  6. Prevalence of congenital hydrocephalus in the Hashemite kingdom of Jordan: A hospital-based study

    OpenAIRE

    Hana Dawood Ali Alebous; Abeer Ahmad Hasan

    2012-01-01

    Background: Congenital hydrocephalus, an important cause of neurologic morbidity and mortality in children, is a medical condition characterized by an abnormal accumulation of cerebrospinal fluid in the brain. It can be caused by abnormal brain development, obstruction of the cerebral aqueduct flow, Chiari malformations, and Dandy-Walker malformation. The prevalence of congenital hydrocephalus is 2.2 to 18 per 10,000 live births. Objectives: To determine the prevalence of congenital hydroceph...

  7. 16 multi-slice CT three-dimensional and multiplanar reconstruction for evaluation of pediatric congenital scoliosis

    International Nuclear Information System (INIS)

    Objective: Our study is to use of 16 MSCT three-dimensional images and multiplanar reconstruction images in the preoperative investigation of patients with congenital scoliosis, to study its technical advantage and work out surgical plan. Methods: Twenty-seven pediatric patients with congenital scoliosis processing between April to October 2004 were reviewed, including 13 boys and 14 girls. X-ray plain film and sixteen multi-slice CT examination on curved/standard multiplanar reconstruction and three- dimensional computed tomographic imaging may offer, many potential advantages for defining congenital spine anomalies liable to cause progression of scoliosis, including visualization of the deformity in any plane, from any angle, with the overlying structures subtracted. Results: Ten patients had segmentation defects, 6 patients underwent formation defects, 11 patients had complex, unclassifiable anomalies. The patients of rib deformity were found in 15 patients, the most prominent part of the rib cage deformity was at the same level as the most rotated vertebra in 7 patients; 8 patients had vertebral anomalies accompanied with diastematomyelie, including 6 patients with uncompleted or completed bony spur. In 19 of 27 cases, the muhiplanar reconstruction and three-dimensional images allowed identification of unrecognized malformations and completely evaluated the degree of scoliosis, during conventional X-ray images and axial CT images, including volume 3D imaging evaluated approximately classification and modality of complex anomalies in 11 cases, which were unclassifiable malformation in 7 cases and unsegmented bar with contralateral hemivertebrae; 4 children had segmentation defects revealed unilateral unsegmented bar (3 cases) and bilateral block vertebra (1 case) in volume 3D reconstruction images; 2 children were found occultation hemivertebrae which were not been discovered during conventional X-ray images and axial CT images; and 2 children were revaluated the amount of hemivertebrae. The curved multiplanar reconstruction images in all eases were best for defining the spinal canal and spinal medulla, and showed clearly the modality and developed way of bony spur, even the relationship with spinal cord in 6 cases. The standard muhiplanar reformatted images in 4 cases were helpful in showing occipital-C1-C2 anatomy and malformation, especially the junction of skull and cervix malformation. Conclusion: Our data suggest that 16 MSCT three- dimensional images and muhiplanar reconstruction images appears to be most useful tool in the patients with congenital scoliosis in which the anomalies are complex, multiple, or obscured by deformity and rib malformation. The reformatted images of MSCT is markedly superior to conventional X-ray images and axial CT images when used to evaluate the progressive spinal curvatures and work out surgical plan. (authors)

  8. ONE YEAR PROSPECTIVE STUDY OF CASES OF PR EGNANCY WITH CONGENITAL MALFORMAT IONS OF FETUS

    Directory of Open Access Journals (Sweden)

    Jyotsna

    2013-06-01

    Full Text Available ABSTRACT: OBJECTIVE: To study the incidence of congenital malformation, to diagnose congenital malformations by USG in antenatal period as early as possible and to find out the cause and associated factors affecting congenital malformation. MATERIALS AND METHODS: The present study was conducted for one year in the department of obstetrics and Gynaecology, Rajindra Hospital Patiala. All cases whether detected antenatally or at the time of birth were taken. The diagnosis was made by USG in antenatal cases and at the time of delivery in those cases who have no previous USG reports or antenatal checkups . RESULTS: There were total 900 deliveries, out of which 831 were live born and 69 were still born. Congenital malformations were present in 62 cases out of which 23 were live born, 29 were still births and the re were 10 cases of abortion. The overall incidence of congenital malformations in the present study was 68.89/1000 births (6.889%. Out of total 62 cases of congenital malformations, CNS malformations were found to be the most common (66.13%, followed by musculoskeletal system (24.19% . In the present study USG was found to be a good method of screening of congenital malformations with high specificity (100% and sensitivity (73.21%. The PPV was 100% and NPV was 98.01%. The percentage of false positive re sults was 0% but that of false negative was 26.78%. CONCLUSION: Ignorance, illiteracy and unawareness about the availability of USG, lack of adequate antenatal checkups is the main cause of late diagnosis of congenital malformations. Best effort should be put in to make the diagnosis of congenital malformations early so that referral can be made at the earliest for early intervention and planned delivery at an appropriate center.

  9. Inheritance of congenital heart disease

    OpenAIRE

    Roos-Hesselink, J.W.; Kerstjens-Frederikse, W.S.; Meijboom, F.J.; Pieper, P.G.

    2005-01-01

    Congenital heart defects (CHD) are the most common developmental anomalies and are the leading noninfectious cause of mortality in newborn babies. It has been estimated that between four and ten live-born infants per 1000 have a cardiac malformation (0.4 to 1.0%), 40% of which are diagnosed in the first year of life. The European Registration of Congenital Anomalies (EUROCAT) reported a prevalence of 58.9/10,000 live births in the northern part of the Netherlands (0.6%). Hoffman estimated tha...

  10. Cardiac Arrhythmias In Congenital Heart Diseases

    OpenAIRE

    Paul Khairy; Seshadri Balaji

    2009-01-01

    Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management ...

  11. Interventional treatment of pulmonary arteriovenous malformations

    Directory of Open Access Journals (Sweden)

    Poul Erik Andersen

    2010-09-01

    Full Text Available Pulmonary arteriovenous malformations (PAVM are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT (Mb. Osler-Weber-Rendu syndrome. Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT.

  12. Interventional treatment of pulmonary arteriovenous malformations

    Science.gov (United States)

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT. PMID:21160695

  13. HISTOLOGICAL STUDY OF NEONATAL BOWEL IN ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Amrish Tiwari

    2014-06-01

    Full Text Available Anorectal malformations are the congenital condition, seen in approximately 1 in 5000 live births. It affects male and female in the ratio of 1.3:1. Anorectal malformations include a wide range of malformations, that not only involves the anus and rectum, but it also involves urinary and genital tract. Aims and objectives of the study, was to understand the structures involved in anorectal malformations by histological study of surgically excised segments of involved part of neonatal intestine and to understand the degree and cause of possible structural impairment in different segments of involved parts of neonatal bowel that may help in the surgical management of anorectal malformations. Present study was conducted on surgically excised segments of fifteen cases of anorectal malformations, that have been collected from Department of Paediatrics Surgery, IMS, BHU. After that processing of the samples have been done and blocks have been prepared. Then after sectioning and staining with Hematoxyline and Eosin, findings have been noted under the microscope. Histopathological examination revealed the abnormalities of varying degrees. To conclude this study supports that the malformed segments should be excised, regarding controversial issue of preserving or excising the distal segment of anorectum for better functional outcome.

  14. Mortalidad por anomalías congénitas en Chile (1969-1997) / Mortality due to congenita malformations in Chile (1969-1997)

    Scientific Electronic Library Online (English)

    Paula, Bedregal G; Carlos, Orfali H; Enrique, Norero M; Magda, Vercellino P.

    2000-04-01

    Full Text Available [...] Abstract in english Background: Congenital malformations are defined as those structural, metabolic or functional defects found at birth. Aim: To study the mortality due to congenital malformations in Chile between 1969 and 1997, their type, individual, temporal and geographic variations. Material and Methods: A descri [...] ptive analisis of deaths registered by the National Statistics Institute and the Ministry of Health. Means, frequencies, raw and adjusted rates were calculated and inferences for some variables were carried out. Results: Between 1969 and 1997 ther was tendency towards a reduction in rates of mortality due to congenital malformations and an increment in their relative importance. During the period, the risk for chromosome (98%) and osteomuscular (67%) malformations increased. Men and children of less than one year had the higher risk. In 1995, 1167 deaths due to congenital malformations were registered, 90% in children of less than 5 years. Higher risks occurred in urban zones (with a rate of 8.25 per 100.000) in the third region (rate 11.59) and second region (rate 11.2). Most deaths occurred in hospitals (85%). Main causes of death were circulatory system, central nervous system and chromosome malformations. Conclusions: The differences in regional deaths due to congenital malformations suggests specific risks that deserve further study. (Rev Méd Chile 2000; 128: 392-98).

  15. Mortalidad por anomalías congénitas en Chile (1969-1997 Mortality due to congenita malformations in Chile (1969-1997

    Directory of Open Access Journals (Sweden)

    Paula Bedregal G

    2000-04-01

    Full Text Available Background: Congenital malformations are defined as those structural, metabolic or functional defects found at birth. Aim: To study the mortality due to congenital malformations in Chile between 1969 and 1997, their type, individual, temporal and geographic variations. Material and Methods: A descriptive analisis of deaths registered by the National Statistics Institute and the Ministry of Health. Means, frequencies, raw and adjusted rates were calculated and inferences for some variables were carried out. Results: Between 1969 and 1997 ther was tendency towards a reduction in rates of mortality due to congenital malformations and an increment in their relative importance. During the period, the risk for chromosome (98% and osteomuscular (67% malformations increased. Men and children of less than one year had the higher risk. In 1995, 1167 deaths due to congenital malformations were registered, 90% in children of less than 5 years. Higher risks occurred in urban zones (with a rate of 8.25 per 100.000 in the third region (rate 11.59 and second region (rate 11.2. Most deaths occurred in hospitals (85%. Main causes of death were circulatory system, central nervous system and chromosome malformations. Conclusions: The differences in regional deaths due to congenital malformations suggests specific risks that deserve further study. (Rev Méd Chile 2000; 128: 392-98.

  16. Clinical presentation of congenital convex pes valgus.

    Science.gov (United States)

    Griffin, D W; Daly, N; Karlin, J M

    1995-01-01

    Congenital convex pes valgus, frequently termed vertical talus in past descriptions, is a malformed foot that requires early diagnosis and treatment. A brief review of clinical features and a case presentation are provided to enhance the understanding of this complex deformity. A successful treatment regimen for infants and children is described, involving manipulation and early surgical correction. PMID:7599612

  17. Posterior fossa malformations.

    Science.gov (United States)

    Shekdar, Karuna

    2011-06-01

    Understanding embryologic development of the cerebellum and the 4th ventricle is essential for understanding posterior fossa malformations. Posterior fossa malformations can be conveniently classified into those that have a large posterior fossa and those with normal or small posterior fossa. Disorders associated with a large posterior fossa include classic Dandy-Walker malformation, Blake's pouch cyst, mega cisterna magna, and posterior fossa arachnoid cyst. Disorders associated with normal or small posterior fossa include Dandy-Walker variant, Joubert syndrome, tecto-cerebellar dysraphia, rhombencephalosynapsis, the neocerebellar hypoplasias, and cerebellar atrophy. Neuro-imaging features should enable the imager to provide the referring physician a logical approach to these complex posterior fossa malformations. PMID:21596278

  18. Cardiac and vascular malformations

    International Nuclear Information System (INIS)

    Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality. (orig.)

  19. Imaging features of ductal plate malformations in adults

    Energy Technology Data Exchange (ETDEWEB)

    Venkatanarasimha, N., E-mail: nandashettykv@yahoo.com [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom); Thomas, R.; Armstrong, E.M.; Shirley, J.F.; Fox, B.M.; Jackson, S.A. [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom)

    2011-11-15

    Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

  20. Cardiac Arrhythmias In Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Paul Khairy

    2009-11-01

    Full Text Available Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy.

  1. Multiple congenital cranial hemangiomas

    Energy Technology Data Exchange (ETDEWEB)

    Koulouris, George [Alfred Hospital, Department of Radiology, Prahran, Victoria (Australia); Rao, Padma [Royal Children' s Hospital, Department of Radiology, Parkville, Victoria (Australia)

    2005-08-01

    Though cranial hemangiomas are second only to vertebral hemangiomas in frequency, such lesions are rarely congenital and multiple. It is probable that the true incidence of congenital calvarial hemangiomas is higher than that reported in the literature, as they are unlikely to undergo imaging, most being asymptomatic and without a significant soft tissue component. We present a case of multiple congenital calvarial and skull base cavernous-type hemangiomas, diagnosed in a 4-day-old female, involving the right zygoma, maxilla, frontal and petrous temporal bones and contralateral squamous temporal bone. Surgical biopsy confirmed the radiological diagnosis as well as the concomitant multiple subcutaneous capillary-type hemangiomas which were identified clinically. No specific clinical syndrome or chromosomal abnormality was identified and the underlying cerebral parenchyma was normal with no intra-axial involvement. With conservative treatment, two lesions completely resolved and a further two lesions subsequently decreased in both size and degree of enhancement. To the best of our knowledge, this is the first case of multiple congenital hemangiomas involving the calvarium and skull base. Despite this, the radiological features, combined with the clinical findings of multiple capillary hemangiomas, were characteristic enough to permit an accurate preoperative diagnosis. Osseous hemangiomas should feature prominently in any differential diagnosis of multiple hypervascular lesions, as they are common, more so when limited to an anatomical region, irrespective of site or age. (orig.)

  2. Management of intracranial arteriovenous malformations

    International Nuclear Information System (INIS)

    Intracranial arteriovenous malformations (AVMs) are congenital lesions that can cause serious neurological deficits or even death. They can manifest as intracranial hemorrhage, epileptic seizure, or other symptoms such as headache or tinnitus. They are detected by computed tomography or magnetic resonance imaging. Recently there have been significant developments in the management of AVMs. In this paper, the authors represent an overview of the epidemiology of AVMs and the existing treatment strategies. AVMs are ideally excised by standard microsurgical techniques. The grading scale which was proposed by Spetzler and Martin is widely used to estimate the risk of direct surgery. Stereotactic radiosurgery such as that using a gamma knife is very useful for small lesions located in eloquent areas. Technological advances in endovascular surgery have provided new alternatives in the treatment of AVMs. Currently indications for embolization can be divided into presurgical embolization in large AVMs to occlude deep arterial feeding vessels and embolization before stereotactic radiosurgery to reduce the size of the nidus. Palliative embolization can be also applied for patients with large, inoperable AVMs who are suffering from progressive neurological deficits secondary to venous hypertension and/or arterial steal phenomenon. (author)

  3. Maternal obesity and congenital heart defects: a population-based study123

    OpenAIRE

    Mills, James L.; Troendle, James; Conley, Mary R; Carter, Tonia; Druschel, Charlotte M.

    2010-01-01

    Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased.

  4. Low flow vascular malformation of the buccal mucosa treated conservatively by sclerotherapy (3% sodium tetradecyl sulfate)

    OpenAIRE

    Candamourty, Ramesh; Venkatachalam, Suresh; Babu, M.R. Ramesh; Reddy, Vineela Katam

    2012-01-01

    Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas in the head and neck region. It is of paramount importance that a modern classification system is established to differentiate vascular lesions from vascular malformations. Vascular malformations are usually congenital and venous anomalies usually expand because of hormonal changes such as puberty, pregnancy, or secondary to trauma. Here, we report a case which was diagnosed as low flow vascular malfor...

  5. Two Cases of Cardiac Arteriovenous Malformation Complicated by a Local Angioproliferative Process

    OpenAIRE

    Meijer-Jorna, Lorine B.; van den Brink, Renée B. A.; Becker, Anton E; van der Wal, Allard C

    2010-01-01

    Vascular malformations of the heart are extremely rare with only a few cases of the arteriovenous type of vascular malformation (AVM) reported. We investigated the pathology of two additional cases, which were complicated by the occurrence of a local vasoproliferative response of immature but benign vessels. We suppose that the mass forming effect of this vasoproliferative response, which has also been reported recently as a complication of congenital AVM elsewhere in the body, has significan...

  6. MRI characteristics and classification of peripheral vascular malformations and tumors

    Energy Technology Data Exchange (ETDEWEB)

    Moukaddam, Hicham; Pollak, Jeffrey; Haims, Andrew H. [Yale University School of Medicine, Department of Radiology, New Haven, CT (United States)

    2009-06-15

    Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance imaging (MRI) is a noninvasive effective tool for imaging and classification of vascular malformations based on the presence of lobulated masses, signal voids, and hemodynamic flow characteristics. MRI also provides details about anatomic extent of the lesion, proximity to vital structures, and involvement of multiple tissue planes. The prototype of vascular tumors is infantile hemangioma with its typical involution after a proliferative phase during infancy. Hemangioma appears as a distinct intensely enhancing soft tissue mass with enlarged feeding arteries and draining veins. Less common vascular tumors include congenital hemangioma, kaposiform hemangioendothilioma, angiolipoma, angiosarcoma, and hemangiopericytoma. (orig.)

  7. Two cases of broncho-pulmonary foregut malformations

    Directory of Open Access Journals (Sweden)

    ?leftherios D. Spartalis

    2009-01-01

    Full Text Available SUMMARY. Congenital broncho-pulmonary malformations are mostly asymptomatic. They are diagnosed during the investigation of a pulmonary infection or after a chest x-ray. Fetal ultrasound, chest x-ray, ventilation-perfusion scan, CT, MRI, barium meal, esophagoscopy, bronchoscopy and digital angiography can be used for further investigation. Surgical excision was our treatment of choice and had a significally good prognosis. Pneumon 2009; 22(2:178–185.

  8. Avaliação dos resultados clínicos e radiográficos de pacientes submetidos à ressecção de hemivértebra nas deformidades congênitas da coluna vertebral / Evaluation of clinical and radiographic results in patients undergoing resection of hemivertebra in congenital deformities of the spine / Evaluación de los resultados clínicos y radiográficos de los pacientes sometidos a resección de hemivértebra en deformidades congénitas de la columna vertebral

    Scientific Electronic Library Online (English)

    Luis Antonio Medeiros, Moliterno; Alderico Girão de, Barros; América Maria, Limoeiro; André Luiz Loyelo, Barcellos; Antonio Eulálio Pedrosa de, Araújo Junior; Renato Henriques, Tavares; Luiz Claudio, Schettino; Luis Eduardo Carelli Teixeira da, Silva.

    Full Text Available OBJETIVO: A proposta do estudo foi determinar nossos resultados clínicos e radiográficos de pacientes com deformidades congênitas da coluna vertebral submetidos à ressecção de hemivértebra por via posterior isolada e correção com instrumentação posterior e fusão. MÉTODOS: Registros de 31 pacientes s [...] ubmetidos à ressecção de hemivértebra no período de 2003 a 2010 foram revistos para identificar idade e sexo, grau de correção, níveis da artrodese, quadro neurológico, perda sanguínea, tempo cirúrgico e complicações. RESULTADOS: Foram identificados 22 pacientes com escoliose e Cobb pré-operatório médio de 46.66°(20-88°) e 9 pacientes com cifose e média angular de 83.54°(13-137°). Vinte e quatro pacientes eram do sexo feminino e 7 do sexo masculino. Foram 13 pacientes adolescentes e 18 crianças (1-19 anos). A ressecção de hemivértebra foi realizada em 1 nível (64%), 2 níveis (32%) e 3 níveis (4%). As taxas de correção da escoliose e cifose foram 63.8 e 40.1% e as médias angulares pós-operatórias foram 16.88° e 50°, respectivamente. Complicações ocorreram em 7 pacientes: pseudartrose, cifose juncional, neurite óptica, déficit neurológico, infecção de ferida operatória e óbito. A média de perda sanguínea foi de 1132ml (300ml-3500ml) e o tempo cirúrgico foi de 7.15 horas (4-13 horas). CONCLUSÕES: A ressecção de hemivértebra é uma valiosa técnica no tratamento das deformidades congênitas angulares e uma alternativa eficiente que oferece correção satisfatória nos planos coronal e sagital sem a necessidade de uma abordagem anterior. Abstract in spanish OBJETIVO: El objetivo de nuestro estudio fue determinar los resultados clínicos y radiográficos de los pacientes con deformidades congénitas de la columna vertebral que se sometieron a la resección de hemivértebra por el acceso aislado posterior con instrumentación posterior y fusión. MÉTODOS: Regis [...] tros de 31 pacientes sometidos a resección de la hemivértebra el período 2003 a 2010 fueron revisados para identificar edad y sexo, grado de corrección, niveles de la fusión, estado neurológico, pérdida de sangre, tiempo quirúrgico y complicaciones. RESULTADOS: Se identificaron 22 pacientes con escoliosis y Cobb promedio preoperatorio de 46,66° (20°-88°) y 9 pacientes con un ángulo medio de cifosis y 83,54° (13°-137°). Veinticuatro pacientes eran hombres y siete mujeres. Hubo 13 adolescentes y 18 niños (1-19 años). La resección de hemivértebra se realizó en un nivel (64%), dos niveles (32%) y tres niveles (4%). Los porcentajes de corrección de la escoliosis y la cifosis fueron 63,8% y el 40,1% y el ángulo de post-operatorio promedio fue de 16.88° y 50°, respectivamente. Se presentaron complicaciones en 7 pacientes, pseudoartrosis, cifosis de la unión, neuritis óptica, déficit neurológico, infección de la herida y muerte. La pérdida de sangre promedio fue de 1132 ml (300 ml-3500 ml) y el tiempo quirúrgico medio fue de 7,15 horas (4-13 horas). CONCLUSIONES: La resección de hemivértebra es una técnica valiosa en el tratamiento de deformidades angulares congénitas y una alternativa eficaz que proporciona corrección satisfactoria en el plano coronal y sagital sin la necesidad de una vía anterior. Abstract in english OBJECTIVE: The purpose of this study was to determine our clinical and radiographic results of patients with congenital deformities of the spine underwent to single-stage posterior hemivertebra resection and correction with segmental posterior instrumentation and fusion. METHODS: The records of 31 c [...] onsecutive patients who had undergone to hemivertebra resection between 2003 and 2010 were reviewed to identify age and sex, correction rates, fusion levels, neurological status, blood loss, time of surgery and complications. RESULTS: We identified 22 patients with scoliosis and pre-operative Cobb averaged 46.66° (range 20-88°) and 9 patients with kyphosis and averaged 83.54° (range 13-137°). Twenty four patients were female and 7 w

  9. [Congenital esophagotracheal fistulas without esophageal atresia in children].

    Science.gov (United States)

    Bourdinière, J; Lavalou, J F; Le Clech, G; Babut, J M; Camuzet, J P; Leprince, B; Le Gall, G

    1985-01-01

    Ten cases are reported of children presenting isolated, congenital esophagotracheal fistulae without esophageal atresia, or "H-type-fistula" of Anglo-Saxon authors. The malformation is rare, of difficult diagnosis and often associated with other malformations. Respiratory symptomatology is sometimes dramatic, but diagnosis is based on data from radiologic imaging of the esophagus and from esophageal and tracheobronchial endoscopy. Treatment is surgical by a cervicotomy approach due to the almost constant high localization of the lesion. PMID:4037619

  10. Cerebral Cavernous Malformations (CCM)

    Science.gov (United States)

    ... SWS) is the association of a facial port-wine birthmark with abnormal vessels on the surface of the brain, glaucoma, or both. The presence of a port- ... skin lesions DOES NOTHING for the eye and brain complications of ... Does the Port-Wine birthmark (capillary vascular malformation) rejuvenate itself? If you ...

  11. Congenital Leukemia

    OpenAIRE

    Rupali Bargotra , Jyotsna Suri, Yudhvir Gupta

    2010-01-01

    Congenital leukemia is a rare disease that can manifest soon after birth. Cutaneous involvement consistsof red, brown or purple papules or nodules and purpura. We present a case of congenital myelomonblasticleukemia in a seven week old infant who had petechiae and subcutaneous nodules. Diagnosis was establishedby the presence of leukemic cells in bone marrow and involved skin along with cytochemical characterizationof these cells.

  12. Radiosurgery for brain arteriovenous malformations

    International Nuclear Information System (INIS)

    Radiosurgery as treatment for arteriovenous malformations has shown a good efficacy in reducing intracranial bleeding due to rupture. The choice of therapeutic modalities is based on evolutive risk and arteriovenous malformations volume, patient profile and risks stratification following therapeutic techniques (microsurgery, radiosurgery, embolization). Nidus size, arteriovenous malformations anatomical localization, prior embolization or bleeding, distributed dose are predictive factors for radio-surgery's good results and tolerance. This review article will highlight arteriovenous malformations radiosurgery indications and discuss recent irradiation alternatives for large arteriovenous malformation volumes. (authors)

  13. Adult congenital surgery: current management.

    Science.gov (United States)

    Vouhé, Pascal R

    2011-01-01

    The population of adults with congenital heart disease (CHD) (commonly called grown-ups with congenital heart disease or GUCH) is increasing steadily and exceeds the population of children with CHD already. The specificities of GUCH surgery are multiple and include (1) variety of the anatomo-clinical situations (defects repaired during childhood, malformations either nonoperated or palliated, nonreparable defects), (2) usual multiorgan involvement, and (3) many technical differences related to cardiopulmonary bypass, myocardial protection, and surgical technique. The surgical indications should be taken after a precise evaluation of the risk/benefit ratio on an individual basis; a balanced attitude should be kept between unwise interventionism and excessive waiting policy. It is now agreed that GUCH surgery should be performed in specialized centers with large patient volumes and expertise of both surgical and medical disciplines. Much remains to be done to implement these recommendations and to accumulate experience and evidence-based information to provide optimal outcome. PMID:22172358

  14. Current concepts in lymphatic malformation.

    Science.gov (United States)

    Lee, B B; Kim, Y W; Seo, J M; Hwang, J H; Do, Y S; Kim, D I; Byun, H S; Lee, S K; Huh, S H; Hyun, W S

    2005-01-01

    A lymphatic malformation (LM) is the most common form of congenital vascular malformation (CVM). The new Hamburg classification of CVM distinguishes the truncular (T) form from the extratruncular (ET) form of LMs. Both are consequences of a developmental arrest at the different stages of lymphangiogenesis as a result of defective genes. The purpose of this review was to evaluate the current management results of both forms of LMs. A retrospective review of the clinical data of 315 patients with a diagnosis of LMs treated between September 1994 and December 2001 was performed. Lymphoscintigraphy was the most frequent diagnostic test. The patients with the ET form were treated with sclerotherapy with OK-432 and/or ethanol. Combinations of CDP (complex decongestive physiotherapy) and/or compressotherapy were used to treat all the T-form patients. In addition, surgery, either reconstructive or ablative, was offered to patients with the T form who failed to respond to the proper CDP. A multidisciplinary team performed the management of LM, and the results were evaluated every 6 months. Among 797 patients with CVM, 315 were confirmed to have LMs, either as the T form (226) or the ET form (89). Another 66 LMs were diagnosed with hemolymphatic malformations (HLM). Most of the ET forms (89/315) were the cystic type (70/89), while the T forms included aplasia and/or an obstruction (204/226). The ET form was most frequent in the head, neck, and thorax (69/89). The T form was located most frequently to the extremities (202/226), mostly to the lower limb (180/202). Two hundred and twenty-six T forms belonged to the various clinical stages: stages I-32, II-104, III-48, IV-18, and an unclear stage-24. The ET form was treated with sclerotherapy using OK-432 (108/120) and absolute ethanol (12/120). Among the 11 patients with the multiple ET form, 7 patients underwent perioperative sclerotherapy with OK-432 and a subsequent surgical excision. The clinical response of the T form at the extremity to CDP was excellent to good in a majority of clinical stages I to II (121/136) but decreased to a good to fair degree in stages III to IV (31/66). The additional surgical therapy, either reconstructive (10/19) or ablative (9/19), provided limited success in improving CDP efficacy, owing mainly to poor compliance. The long-term outcome of the initial success through self-motivated home-maintenance care during the follow-up period of up to 48 months was totally dependent on patient compliance. OK-432 sclerotherapy to 51 ET forms has shown excellent results on 88.9% of the cystic type (40/45) and 50% (3/6) of the cavernous type (minimum follow-up for 24 months). Seventeen ET forms in 7 patients were treated with a preoperative OK-432 sclerotherapy and a subsequent surgical excision, which provided good to excellent results in 14 for a minimum of 24 months. Primary lymphedema, which is the T form of LMs, can be managed safely by a combination of CDP with compressotherapy. Patients with good compliance can benefit from additional surgical therapy, either reconstructive or ablative. The ET form, particularly the cystic type, can be treated with various scleroagents that are preferably less toxic as the primary therapy. A surgical excision with or without perioperative sclerotherapy provides good results for patients with the localized cavernous type of the ET form. A multidisciplinary team approach is essential for the proper care of LM. PMID:15696250

  15. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

    DEFF Research Database (Denmark)

    Russell, Meaghan K; Longoni, Mauro; Wells, Julie; Maalouf, Faouzi I; Tracy, Adam A; Loscertales, Maria; Ackerman, Kate G; Pober, Barbara R; Hansen, Kasper Lage; Bult, Carol J; Donahoe, Patricia K

    2012-01-01

    Congenital diaphragmatic hernia (CDH) is a common (1 in 3,000 live births) major congenital malformation that results in significant morbidity and mortality. The discovery of CDH loci using standard genetic approaches has been hindered by its genetic heterogeneity. We hypothesized that gene expression profiling of developing embryonic diaphragms would help identify genes likely to be associated with diaphragm defects. We generated a time series of whole-transcriptome expression profiles from las...

  16. Isolated congenital tracheal stenosis in a preterm newborn

    OpenAIRE

    Krause, Ulrich; Rödel, Ralph; Paul, Thomas

    2011-01-01

    Severe tracheal stenosis, resulting in functional atresia of the trachea is a rare congenital malformation with an estimated occurrence of two in 100,000 newborns. If no esophagotracheal fistula is present to allow for spontaneous breathing, this condition is usually fatal. We report on a male infant born at 32 weeks of gestation. The patient presented with respiratory distress immediately after delivery due to severe congenital tracheal stenosis resulting in functional atresia of the trachea...

  17. Four Polygamous Families with Congenital Birth Defects from Fallujah, Iraq

    OpenAIRE

    Paola Manduca; Mohammad Tafash; Samira Alaani; Mozhgan Savabieasfahani

    2010-01-01

    Since 2003, congenital malformations have increased to account for 15% of all births in Fallujah, Iraq. Congenital heart defects have the highest incidence, followed by neural tube defects. Similar birth defects were reported in other populations exposed to war contaminants. While the causes of increased prevalence of birth defects are under investigation, we opted to release this communication to contribute to exploration of these issues. By using a questionnaire, containing residential hist...

  18. An infant with multiple congenital abnormalities and biochemical findings suggesting a variant of galactosialidosis.

    OpenAIRE

    Say, B; Hommes, F A; S. A. Malik; Carpenter, N J

    1992-01-01

    A female newborn probably with a variant form of galactosialidosis is described. The patient, in addition to the common findings seen in early infantile forms of classical galactosialidosis, displayed an unusual combination of congenital malformations including complex cyanotic congenital heart disease with dextrocardia and situs inversus.

  19. Congenital toxoplasmosis

    Science.gov (United States)

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  20. Laser treatment of oral vascular malformations

    Science.gov (United States)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  1. Congenital bilateral short femur complicated by stress fracture. A case report.

    Science.gov (United States)

    Keskin, D; Ezirmik, N; Karsan, O

    2000-12-01

    Congenital malformation of the femur is an uncommon but complex problem. Short femur with proximal deficiency (Kalamchi type III) is part of this congenital anomaly. If the precautions associated with progressive coxa vara and bowing in the femoral shaft are not taken, stress fractures may occur in the femoral neck and the femoral shaft. We report on a 38-year-old female with type III-A congenital malformation of both femurs who presented the complications mentioned and had not been treated before. This case is instructive because it illustrates the complications developed in patients who have not been treated. PMID:11196376

  2. Newborn male presented with congenital diaphragmatic hernia and choledochal cyst: A case report

    Directory of Open Access Journals (Sweden)

    Daniel Krebs

    2015-05-01

    Full Text Available Infants with congenital diaphragmatic hernia (CDH have an increased incidence of associated malformations, ranging from 10% to 50% higher than the general population [1–5]. Choedochal cysts, congenital cystic dilations of the biliary tree, are anomalies that have not yet been described in association with CDH. We describe a patient with a left congenital diaphragmatic hernia who was later diagnosed with a choledochal cyst.

  3. Congenital nasolacrimal duct cyst/dacryocystocele: An argument for a genetic basis

    OpenAIRE

    Barham, Henry P.; Wudel, Justin M.; Enzenauer, Robert W; Chan, Kenny H.

    2012-01-01

    Embryogenesis of a congenital nasolacrimal duct (NLD) cyst is attributed to the failure of the Hasner membrane of the NLD system to cannulate. Prenatal diagnosis of congenital NLD cysts supports the argument for a developmental error, with a postnatal prevalence of 6%. The role of a genetic basis for this malformation has never been ascribed. We present a set of monozygotic twins with bilateral congenital NLD cysts as an argument for a genetic basis of this entity. A case report and literatur...

  4. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

    2010-06-15

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease-free survival. (orig.)

  5. Congenital tumors of the central nervous system

    International Nuclear Information System (INIS)

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease-free survival. (orig.)

  6. Avaliação dos resultados clínicos e radiográficos de pacientes submetidos à ressecção de hemivértebra nas deformidades congênitas da coluna vertebral Evaluación de los resultados clínicos y radiográficos de los pacientes sometidos a resección de hemivértebra en deformidades congénitas de la columna vertebral Evaluation of clinical and radiographic results in patients undergoing resection of hemivertebra in congenital deformities of the spine

    Directory of Open Access Journals (Sweden)

    Luis Antonio Medeiros Moliterno

    2013-01-01

    Full Text Available OBJETIVO: A proposta do estudo foi determinar nossos resultados clínicos e radiográficos de pacientes com deformidades congênitas da coluna vertebral submetidos à ressecção de hemivértebra por via posterior isolada e correção com instrumentação posterior e fusão. MÉTODOS: Registros de 31 pacientes submetidos à ressecção de hemivértebra no período de 2003 a 2010 foram revistos para identificar idade e sexo, grau de correção, níveis da artrodese, quadro neurológico, perda sanguínea, tempo cirúrgico e complicações. RESULTADOS: Foram identificados 22 pacientes com escoliose e Cobb pré-operatório médio de 46.66°(20-88° e 9 pacientes com cifose e média angular de 83.54°(13-137°. Vinte e quatro pacientes eram do sexo feminino e 7 do sexo masculino. Foram 13 pacientes adolescentes e 18 crianças (1-19 anos. A ressecção de hemivértebra foi realizada em 1 nível (64%, 2 níveis (32% e 3 níveis (4%. As taxas de correção da escoliose e cifose foram 63.8 e 40.1% e as médias angulares pós-operatórias foram 16.88° e 50°, respectivamente. Complicações ocorreram em 7 pacientes: pseudartrose, cifose juncional, neurite óptica, déficit neurológico, infecção de ferida operatória e óbito. A média de perda sanguínea foi de 1132ml (300ml-3500ml e o tempo cirúrgico foi de 7.15 horas (4-13 horas. CONCLUSÕES: A ressecção de hemivértebra é uma valiosa técnica no tratamento das deformidades congênitas angulares e uma alternativa eficiente que oferece correção satisfatória nos planos coronal e sagital sem a necessidade de uma abordagem anterior.OBJETIVO: El objetivo de nuestro estudio fue determinar los resultados clínicos y radiográficos de los pacientes con deformidades congénitas de la columna vertebral que se sometieron a la resección de hemivértebra por el acceso aislado posterior con instrumentación posterior y fusión. MÉTODOS: Registros de 31 pacientes sometidos a resección de la hemivértebra el período 2003 a 2010 fueron revisados para identificar edad y sexo, grado de corrección, niveles de la fusión, estado neurológico, pérdida de sangre, tiempo quirúrgico y complicaciones. RESULTADOS: Se identificaron 22 pacientes con escoliosis y Cobb promedio preoperatorio de 46,66° (20°-88° y 9 pacientes con un ángulo medio de cifosis y 83,54° (13°-137°. Veinticuatro pacientes eran hombres y siete mujeres. Hubo 13 adolescentes y 18 niños (1-19 años. La resección de hemivértebra se realizó en un nivel (64%, dos niveles (32% y tres niveles (4%. Los porcentajes de corrección de la escoliosis y la cifosis fueron 63,8% y el 40,1% y el ángulo de post-operatorio promedio fue de 16.88° y 50°, respectivamente. Se presentaron complicaciones en 7 pacientes, pseudoartrosis, cifosis de la unión, neuritis óptica, déficit neurológico, infección de la herida y muerte. La pérdida de sangre promedio fue de 1132 ml (300 ml-3500 ml y el tiempo quirúrgico medio fue de 7,15 horas (4-13 horas. CONCLUSIONES: La resección de hemivértebra es una técnica valiosa en el tratamiento de deformidades angulares congénitas y una alternativa eficaz que proporciona corrección satisfactoria en el plano coronal y sagital sin la necesidad de una vía anterior.OBJECTIVE: The purpose of this study was to determine our clinical and radiographic results of patients with congenital deformities of the spine underwent to single-stage posterior hemivertebra resection and correction with segmental posterior instrumentation and fusion. METHODS: The records of 31 consecutive patients who had undergone to hemivertebra resection between 2003 and 2010 were reviewed to identify age and sex, correction rates, fusion levels, neurological status, blood loss, time of surgery and complications. RESULTS: We identified 22 patients with scoliosis and pre-operative Cobb averaged 46.66° (range 20-88° and 9 patients with kyphosis and averaged 83.54° (range 13-137°. Twenty four patients were female and 7 were male. Thirteen patients were teenagers and 18 were children (range 1-19 years

  7. Trisomy 13 in monozygotic twins discordant for major congenital anomalies.

    OpenAIRE

    Naor, N; Amir, Y; Cohen, T.; Davidson, S.

    1987-01-01

    The occurrence of trisomy 13 in twins is very rare. We report a pair of genotypically identical twins with trisomy 13 discordant for major anomalies. This case contributes to the already published data on the contribution of non-genetic factors to the aetiology of congenital malformations in monozygotic twins.

  8. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Storr, U. [Landratsamt Neuburg-Schrobenhausen, Gesundheitsamt, Neuburg an der Donau (Germany)]|[Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Rupprecht, T. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Bornemann, A. [Inst. for General Pathology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Ries, M. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Beinder, E. [Dept. of Obstetrics and Gynecology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Boewing, B. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Harms, D. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany)

    1997-03-01

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  9. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3).

    Science.gov (United States)

    de León Ojeda, Norma Elena; Soriano-Torres, Michel; Cabrera, Mercedes J; Benítez Ramos, Dunia Bárbara

    2012-01-01

    We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chromosome analysis showed 46, XY, del(4)(q31.3) de novo. The only reported case with the same deletion was a male newborn that exhibited the pattern of minor anomalies of deletion 4q31 syndrome. The parents were cytogenetically normal. We compare clinical signs to other cases with a deletion in long arm of chromosome 4. PMID:23320208

  10. Genetics and Human Malformations

    OpenAIRE

    Mues, Gabriele; Kapadia, Hitesh; Wang, Ying; D’souza, Rena N

    2009-01-01

    Genetics gains more and more importance in all areas of health care including craniofacial surgery and dentistry. This does not mean that every patient will benefit from genetic advances but for many health problems we will see progress in explaining disease pathogenesis, establishing diagnosis, guiding therapy, predicting prognosis and achieving prevention. In this report we briefly review the roles of the PAX9, MSX1, AXIN2 and EDA genes in the causation of congenital tooth agenesis and the ...

  11. Low flow vascular malformation of the buccal mucosa treated conservatively by sclerotherapy (3% sodium tetradecyl sulfate).

    Science.gov (United States)

    Candamourty, Ramesh; Venkatachalam, Suresh; Babu, M R Ramesh; Reddy, Vineela Katam

    2012-07-01

    Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas in the head and neck region. It is of paramount importance that a modern classification system is established to differentiate vascular lesions from vascular malformations. Vascular malformations are usually congenital and venous anomalies usually expand because of hormonal changes such as puberty, pregnancy, or secondary to trauma. Here, we report a case which was diagnosed as low flow vascular malformation of buccal mucosa involving the lower lip and subsequently treated with 3% sodium tetra decyl sulfate. This paper provides overall understanding regarding the presentation and management of small vascular lesions in the orofacial region. Percutaneous sodium tetradecyl sulfate when used either alone or as adjunct to surgery is a safe, effective, and inexpensive agent in the treatment of venous malformations. However, proper case selection, evaluation, and careful planning are necessary to reduce the unwarranted risks and complications. PMID:23225986

  12. Brainstem cavernous malformations.

    Science.gov (United States)

    Petr, O; Lanzino, G

    2015-09-01

    Of all cavernous malformations (CMs), 4% to 35% are found in the brainstem accounting for 13% of vascular malformations of the posterior fossa. The annual risk of hemorrhage associated with a CM with no history of a previous hemorrhagic episode is very low ranging from 0.6% to 1.1% per year. However, the risk of recurrent hemorrhage after a presenting bleed is significantly higher. There is a correlation between the extent of persistent neurological deficits and the number of recurrent hemorrhages as rehemorrhage increases the rate and severity of neurological deficits. Neurological deficits often improve after a hemorrhagic event spontaneously and sometimes resolve completely. The indication for surgery in patients with brainstem CMs is controversial. Over the years, we have taken a more cautious stance and we often recommend observation in patients after a single symptomatic bleed as most patients return to a good level of functioning after a single bleed. Surgery is recommended for more aggressive lesions usually after a recurrent bleed. In general, given the very low risk of bleeding from truly asymptomatic lesions, surgery should not be considered in these patients. For symptomatic lesions which have presented with hemorrhage, the decision of whether or not to proceed with surgical resection is related to the risk of surgery, patient's disposition and perceived risk of rebleeding. Favorable outcome can be achieved through surgical resection after an appropriate selection of the patients and thorough preoperative surgical planning. PMID:25943871

  13. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." PMID:25726292

  14. Linkage study of embryopathy-polygenic inheritance of diabetes-induced skeletal malformations in the rat.

    Science.gov (United States)

    Nordquist, Niklas; Luthman, Holger; Pettersson, Ulf; Eriksson, Ulf J

    2012-06-01

    We developed an inbred rat model of diabetic embryopathy, in which the offspring displays skeletal malformations (agnathia or micrognathia) when the mother is diabetic, and no malformations when she is not diabetic. Our aim was to find genes controlling the embryonic maldevelopment in a diabetic environment. We contrasted the fetal outcome in inbred Sprague-Dawley L rats (20% skeletal malformations in diabetic pregnancy) with that of inbred Wistar Furth rats (denotedW, no skeletal malformations in diabetic pregnancy). We used offspring from the backcross F(1)×L to probe for the genetic basis for malformation of the mandible in diabetic pregnancy. A set of 186 fetuses (93 affected, 93 unaffected) was subjected to a whole genome scan with 160 micro satellites. Analysis of genotype distribution indicated 7 loci on chromosome 4, 10 (3 loci), 14, 18, and 19 in the teratogenic process (and 14 other loci on 12 chromosomes with less strong association to the malformations), several of which contained genes implicated in other experimental studies of diabetic embryopathy. These candidate genes will be scrutinized in further experimentation. We conclude that the genetic involvement in rodent diabetic embryopathy is polygenic and predisposing for congenital malformations. PMID:22227068

  15. Posterior fossa arteriovenous malformations

    International Nuclear Information System (INIS)

    Classically, posterior fossa arteriovenous malformations (PF-AVMs) have been considered as lesions with high tendency to bleed. However, careful analysis of clinical and autopsy data from the literature demonstrate that in fact the incidence of hemorrhage is similar in infratentorial and supratentorial locations. The clinical perception that most of the diagnosed PF-AVMs had bled does not mean that they have a high risk of hemorrhage. It suggests that bleeding is the dominant way of expression, since other symptoms are uncommon. Furthermore, angioarchitectural analysis is similar in supra- an intratentorial locations. The causes of hemorrhage are probably related to venous anatomic and hemodynamic changes or associated aneurysms as in other intracranial AVMs. (orig.)

  16. Pediatric glans penis malformations

    Directory of Open Access Journals (Sweden)

    Yi?it Ak?n

    2012-03-01

    Full Text Available Lesions of the pediatric glans penis are uncommon but important for pediatric urological care. Pediatric glans penis lesions have been reported more frequently in the literature in recent years. The lesions are diagnosed at birth or with advancing age. All lesions are benign and diagnosed with a simple physical examination and radiological evaluation. Although, a minority of these lesions have been linked with malignant transformation, the malignant transformation has not been reported for the pediatric glans penis in the literature. After diagnosis and treatment, long-term follow-up is very important. To date, the literature describes 142 pediatric glans penis malformations. We prepared a comprehensive study by using data from 2 different clinics and added 3 new cases from our institutions. The common glans penis anomalies, which are hypospadiac-epispadiac anomalies, were excluded.

  17. Antenatal diagnosis of cystic adenomatoid malformation: Effect on patient management

    International Nuclear Information System (INIS)

    Congenital adenomatoid malformation (CAM) of the lung was diagnosed at 30 weeks gestation. The mother presented with preterm labor and polyhydramnios. A complex cystic mass was seen in the right lung of the fetus. Additional radiographic and sonographic investigations prior to delivery allowed differentiation of this rare lesion from other cystic thoracic pathology of the fetal period. Careful hospital obstetric management of the mother and fetus for over 3 weeks allowed the delivery of an infant with adequate pulmonary maturity to permit stabilization and surgery on the baby in the first days of life. (orig.)

  18. Arteriovenous malformation, 3

    International Nuclear Information System (INIS)

    Various methods have been reported for the purpose of measurement of hemodynamics of the cerebral arteriovenous malformations. In this paper, using a TCT-60A-30 scanner, dynamic computed tomography was performed on 18 cases with arteriovenous malformations. The initial scan of the dynamic CT was started simultaneously with the start of an intravenous injection of uniodinated contrast medium (8 ml/sec.), serial 4.5 sec. scan repeated 8 times. The data for each scan were segmented into three, and a series of 24 rapid-sequence scan images (CT-angiography) was generated. The time-density curve by use of Thompson's methods was analyzed with multiple ROIs which were bilaterally set up for the nidus and its surrounding areas considering each arterial supply. And the flow parameters, such as the peak concentration (PC), the mean transit time (MTT) and the PC/MTT were calculated. We thought that under the condition of normal state of blood-brain-barrier and fixed standards of multiple factors such as the cardio-pulmonary function, systemic blood volume, viscosity of the blood and many others, PC manifested vascular beds of ROIs, MTT brain circulating time, PC/MTT blood flow respectively. In the ROIs of the nidus, high values of PC (115.7 ± 51.9 CT number) and PC/MTT (14.8 ± 6.28 CT number/sec.), and reductance of MTT (8.47 ± 2.28 sec.) were revealed in comparison with surrounding areas. The ROIs of the nidus showed enlargement of vascular beds and blood flow and reductance of brain circulating time. On the other hand, in the ROIs surrounding the nidus, MTT of affected areas (10.33 ± 2.78 sec.) was slow compared with it non-affected areas (9.33 ± 2.09 sec.), however PC and PC/MTT were equal in both areas. (J.P.N.)

  19. Angioembolisation in vaginal vascular malformation.

    Directory of Open Access Journals (Sweden)

    Srivastava D

    2001-01-01

    Full Text Available Vaginal arteriovenous malformations are rare entities and their most common presentation is vaginal haemorrhage. This case report describes a 22-year-old woman who presented at 20 weeks of gestation with slow growing soft and tender swelling at anterior vaginal wall. Diagnosis was confirmed as vaginal vascular malformation on contrast enhanced magnetic resonance imaging. The mass did not subside after delivery and patient developed dyspareunia. It was successfully treated by angioembolisation using polyvinyl alcohol particles. Angioembolisation being safe and effective should be the treatment of first choice for symptomatic vaginal vascular malformation.

  20. [Congenital clubfoot].

    Science.gov (United States)

    Weimann-Stahlschmidt, K; Krauspe, R; Westhoff, B

    2010-11-01

    Congenital clubfoot is one of the most common congenital skeletal deformities with an incidence of 1-2/1000 newborns. The deformity is characterized by pathological changes of joints, bones (especially the talus), muscles, tendons and soft tissues which result in subtalar malpositions known as talipes equinus, varus adductus and cavus. Secondary clubfoot is always part of an underlying systemic or neurologic disease and can occur at birth or develop over time. The treatment of clubfoot should start early after birth and is primarily conservative, involving manipulation and serial casting. Among conservative techniques available today, the Ponseti method is the treatment of choice. Applying this treatment protocol surgical therapy can be reduced in amount and extent. Extensive surgical therapy is only necessary in exceptional cases. PMID:21052630

  1. Evaluation of cases with congenital muscular dystrophy

    Directory of Open Access Journals (Sweden)

    Ute Hehr

    2009-03-01

    Full Text Available Aim: The aim of this study is to evaluate clinical and radiological features of our cases with congenital muscular dystrophy. Material and Method: The data of cases who were diagnosed with congenital muscular dystrophy in the Division of Pediatric Neurology of Dokuz Eylül University School of Medicine between July 2005 and July 2008 were analysed retrospectively. Results: A total of 13 cases were evaluated. Among the 13 cases, seven (53% were boys and six (47% were girls. Seven patients (53% were in the alfa dystroglycanopathy group, five patients (38% were in collagen VI related congenital muscular dystrophy group and one patient (9% was in “rigid spine” group. The mean age of cases with alfa dystroglycanopathy and collagen VI related congenital muscular dystrophy were 3.57±2.92 (0.5-7 and 10.83±5.67 (1-16 years, respectively. In alfa dystroglycanopathy group, five cases (71% had eye involvement and six cases (85% had developmental malformations of the central nervous system. All cases had brainstem hypoplasia and six cases (85% had cerebellar cysts. In collagen VI related congenital muscular dystrophy group, the main complaints were retardation in motor mile stones, contractures in proximal joints and hyperlaxicity in distal joints. The most important clinical features in the case diagnosed with “rigid spine” syndrome were severe scoliosis and muscle atrophy. Conclusions: The clinical features of congenital muscular dystrophies are heterogenous and increase in number of cases diagnosed as congenital muscular dystrophy should give an opportunity to determine the incidence of different types of congenital muscular dystrophies in our country.

  2. A complex communicating bronchopulmonary foregut malformation: diagnostic imaging and pathogenesis

    International Nuclear Information System (INIS)

    We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung. (orig.). With 1 fig

  3. A complex communicating bronchopulmonary foregut malformation: diagnostic imaging and pathogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Sumner, T.E.; Auringer, S.T.; Cox, T.D. [Department of Radiology, Bowman Gray School of Medicine, Wake Forest University, Medical Center Boulevard, Winston-Salem, NC 27157-1088 (United States)

    1997-10-01

    We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung. (orig.). With 1 fig.

  4. Malformation risks of antiepileptic drug monotherapies in pregnancy: updated results from the UK and Ireland Epilepsy and Pregnancy Registers.

    LENUS (Irish Health Repository)

    Campbell, E

    2014-09-01

    Antiepileptic drug (AED) exposure during pregnancy increases the risk of major congenital malformations (MCMs). The magnitude of this risk varies by AED exposure. Here we provide updated results from the UK Epilepsy and Pregnancy Register of the risk of MCMs after monotherapy exposure to valproate, carbamazepine and lamotrigine.

  5. Congenital skeletal abnormalities in a tawny owl chick (Strix aluco).

    Science.gov (United States)

    Barreiro, Andrés; de Trocóniz, Patricia Fdez; Vila, Mónica; López-Beceiro, Ana M; Pereira, José L

    2003-01-01

    In this case report, we describe a tawny owl chick (Strix aluco) coming from a Wild Fauna Recovery Center with multiple congenital malformations in the limbs. The animal was unable to fly and showed marked malnutrition and poor general appearance. Physical, radiologic, and anatomic examinations showed osseous malformations including dislocation of radius and carpometacarpus with abnormal nonfunctional fixation of ligamentum propatagialis, absence of most parts of the bones of the manus in both wings, and twisted nonfused left tarsometatarsus with marked griphosis of digits. Routine toxicologic and pathologic examinations did not reveal a specific etiology. PMID:14562912

  6. Congenital tuberculosis

    International Nuclear Information System (INIS)

    Congenital tuberculosis is an infection that is established in the fetus by hematogenous spread or by the aspiration or inhalation of infected amniotic fluid either before or during labor. The diagnosis can be confirmed only if both the tuberculous nature of the lesion and the antenatal origin of the infection can be proved. The authors analyzed roentgen findings of two cases of pulmonary tuberculosis, thought to be congential; 1. Diffuse distribution of nodular densities and some confluent densities were seen in the entire lungs in the initial film. The pulmonary markings were decreased in some degree. 2. Air bronchogram was noted. 3. Hepatosplenomegaly was associated.

  7. Malformación adenomatoidea quística pulmonar Pulmonary cystic adenomatoid malformation

    Directory of Open Access Journals (Sweden)

    Adis Luisa Peña Cedeño

    2012-09-01

    Full Text Available Introducción: la malformación adenomatoidea quística pulmonar descrita por Bartholinuis en 1687 es una entidad poco frecuente, caracterizada por un sobrecrecimiento de bronquiolos principales terminales los cuales sustituyen a los alveolos, produciendo aumento de volumen del lóbulo afectado. Objetivo: mostrar los hallazgos necrópsicos de un caso de malformación adenomatoidea quística congénita pulmonar, utilizando la clasificación propuesta por Stocker y otros. Métodos: se realiza revisión de la literatura sobre la entidad y de la historia clínica de la gestante. Resultados: se trata de una gestante de 21 años que acude al Hospital Ginecobstétrico Docente de Guanabacoa en el mes de febrero del 2010 para interrupción de la gestación por presentar un ultrasonido que a las 24 sem mostró la presencia de quistes pulmonares, desplazamiento del mediastino, hidrotórax, ascitis y polihidramnios. Este proceder se realizó con éxito y se hizo el estudio anatomopatológico del feto. Conclusiones: se diagnosticó malformación adenomatoidea quística pulmonar tipo III en una edad gestacional temprana, una alteración pulmonar poco frecuente, que permitió la decisión informada para la interrupción de la gestación.Introduction: congenital cystic adenomatoid malformation of the lung described by Bartholinuis in 1687 is a rare entity characterized by an overgrowth of the main terminal bronchioles which replaced the alveoli, causing enlargement of the affected lobe. Objective: to show the autopsy findings of a case of congenital cystic adenomatoid malformation of the lung, using the classification proposed by Stocker and others. Methods: literature review on organizational and medical records of pregnant women is conducted. Results: this is a twenty- one year- old pregnant woman who goes to the Gynecobstetric Teaching Hospital of Guanabacoa in February 2010 for termination of pregnancy since an ultrasound at 24 weeks showed the presence of lung cysts, mediastinal shift, hydrothorax, ascites, and polyhydramnios. This approach was successful and the pathology study of the fetus was performed. Conclusions: type III cystic adenomatoid lung malformation was diagnosed in early gestation, which is a rare lung disorder. This situation allowed informed decision for termination of pregnancy.

  8. Goldenhar syndrome: a case report with facial ocular auricular vertebral manifestations

    Directory of Open Access Journals (Sweden)

    Kotian Rashmishree R, Vinuta Hegde, Atul P. Sattur , Krishna N. Burde, Venkatesh G. Naikmasur

    2014-11-01

    Full Text Available Goldenhar’s Syndrome (GS is a rare condition described initially by Von Arlt. It is characterized by a combination of anomalies: epibulbar tumors, preauricular tags and malformation of the ears. In 1963, Gorlin suggested the name oculo-auriculo-vertebral (OAV dysplasia for this condition and also included vertebral anomalies as signs of the syndrome. The malformations are said to arise from the first and second branchial arches. This work reports a case of GS in 11-years-old boy with the clinical signs of pseudo macrostomia, preauricular tags and epibulbar tumours.

  9. Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique

    Directory of Open Access Journals (Sweden)

    Clarke Kieran

    2004-12-01

    Full Text Available Abstract Background Congenital heart defects are the leading non-infectious cause of death in children. Genetic studies in the mouse have been crucial to uncover new genes and signaling pathways associated with heart development and congenital heart disease. The identification of murine models of congenital cardiac malformations in high-throughput mutagenesis screens and in gene-targeted models is hindered by the opacity of the mouse embryo. Results We developed and optimized a novel method for high-throughput multi-embryo magnetic resonance imaging (MRI. Using this approach we identified cardiac malformations in phosphatidylserine receptor (Ptdsr deficient embryos. These included ventricular septal defects, double-outlet right ventricle, and hypoplasia of the pulmonary artery and thymus. These results indicate that Ptdsr plays a key role in cardiac development. Conclusions Our novel multi-embryo MRI technique enables high-throughput identification of murine models for human congenital cardiopulmonary malformations at high spatial resolution. The technique can be easily adapted for mouse mutagenesis screens and, thus provides an important new tool for identifying new mouse models for human congenital heart diseases.

  10. Risk Factors for Malformations and Impact on Reproductive Performance and Mortality Rates of Schmallenberg Virus in Sheep Flocks in the Netherlands

    OpenAIRE

    Luttikholt, Saskia; Veldhuis, Anouk; Van den Brom, René; Moll, Lammert; Lievaart-Peterson, Karianne; Peperkamp, Klaas; Schaik, Gerdien Van; Vellema, Piet

    2014-01-01

    In Northwestern Europe, an epizootic outbreak of congenital malformations in newborn lambs due to infection with Schmallenberg virus (SBV) started at the end of 2011. The objectives of this study were to describe clinical symptoms of SBV infection, the effect of infection on mortality rates, and reproductive performance in sheep, as well as to identify and quantify flock level risk factors for SBV infections resulting in malformations in newborn lambs. A case-control study design was used, wi...

  11. Surgical Treatment of Congenital Scoliosis

    Directory of Open Access Journals (Sweden)

    2007-01-01

    Full Text Available Congenital scoliosis is a multifactorial spine deformity with some other coexisting anomalies that can be prevented and possibly relatively corrected by means of individualized operative treatment. To assess different aspects of congenital scoliosis in order to propose optimal preventive as well as corrective operational individualized techniques to reach the optimal outcome. Of 105 consecutive scoliotic patients presenting to Tabriz Shohada Orthopedics Hospital since 2003 to 2005, 35 cases were congenital scoliosis and they form the basis of this study. All cases were thoroughly and meticulously examined and Para-clinically assessed for the spinal deformity, co-existing anomalies, operative strategies, curative out comes and the resulted complications. Fifteen male and 20 female were studied through this survey, with the age range of 2-17 years. The average follow-up was 21 months. Associated kyphosis was seen in 19 (54.28% patients. Amongst 5 different patterns of curve presentation Hemivertebrae was found to be the commonest type of vertebral anomaly (31.42%. General abnormalities were seen in 25 (73.5% patients. Genitourinary anomalies were seen in 3 (8.57% patients. Cardiovascular anomalies were seen in 5 patients (14.28% with Mitral valve prolapse being the commonest anomaly. In coronal plane the greatest angle before operation was 110 and the least one 50 with mean degree of 72.22 and the mean correction degree of 68.09% in coronal plane. We found one case of hypokyphosis; however, the associated hyperkyphosis was corrected during the operation.

  12. Parental risk factors and anorectal malformations: systematic review and meta-analysis

    OpenAIRE

    Zwink Nadine; Jenetzky Ekkehart; Brenner Hermann

    2011-01-01

    Abstract Background Anorectal malformations (ARM) are rare forms of congenital uro-rectal anomalies with largely unknown causes. Besides genetic factors, prenatal exposures of the parents to nicotine, alcohol, caffeine, illicit drugs, occupational hazards, overweight/obesity and diabetes mellitus are suspected as environmental risk factors. Methods Relevant studies published until August 2010 were identified through systematic search in PubMed, EMBASE, ISI Web of Knowledge and the Cochrane Li...

  13. Infantile osteopetrosis, craniosynostosis, and Chiari malformation type I with novel OSTEM1 mutation

    OpenAIRE

    Mahmoud Adel, A. H.; Abdullah, A. Al Jabri; Eissa, Faqeih

    2013-01-01

    We report a case of a 9-month-old Arab infant, with novel OSTEM mutation and unpublished triad of osteopetrosis (OP), craniosynostosis (CS), and Chiari malformation type I (CM1). The index presented with progressive irritability, abnormal movements, following an accidental fall. The history revealed early onset of irritability, progressive visual loss, and global developmental delay, more prominent at the gross motor level and a suspected congenital cytomegalovirus infection. The pregnancy wa...

  14. Malformação ílio-femoral Iliofemoral arterial malformation

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    Mangala M. Pai

    2006-12-01

    Full Text Available Durante uma dissecção de rotina realizada em um cadáver do sexo masculino com 65 anos de idade foi constatada malformação arterial iliofemoral. A aorta abdominal estava consideravelmente deslocada lateralmente e também bifurcava em nível mais alto. A artéria ilíaca comum dividia-se uma vértebra acima do nível normal e a artéria femoral dava origem à artéria femoral profunda aproximadamente l,2 cm abaixo do ligamento inguinal, o que é consideravelmente proximal ao seu nível normal. Aqui nós apresentamos uma breve revisão de literatura e base embriológica dessas anomalias.During routine dissection, an Iliofemoral arterial malformation was noticed in a 65 year old male cadaver. The abdominal aorta was considerably laterally displaced and also bifurcated higher up. The common iliac artery divided one vertebral level higher and the femoral artery gave the profunda femoris artery about 1.2 cm below the inguinal ligament, which is considerably proximal to its usual level of origin. A brief review of literature and embryological basis of the anomalies are discussed.

  15. Congenital amusia

    DEFF Research Database (Denmark)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing.

  16. Pineal Cavernous Malformations: Report of Two Cases

    OpenAIRE

    Kim, Dong-Seok; Shim, Kyu-Won; Kim, Tae-Gon; Chang, Jong-Hee; Park, Yong-Gou; Choi, Joong-Uhn

    2005-01-01

    Pineal hemorrhage only occurs in rare cases, and this known to have several different causes such as germ cell tumors, pineal cysts and vascular malformations, including the cavernous malformations. Pineal cavernous malformations are extremely rare: to date only fifteen cases have been reported worldwide. Although the diagnosis of pineal cavernous malformation is not easy because of the extreme rareness of this condition, the presence of this lesion can be suspected based on its typical radio...

  17. Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of specific congenital anomalies

    DEFF Research Database (Denmark)

    Wemakor, Anthony; Casson, Karen; Garne, Ester; Bakker, Marian; Addor, Marie-Claude; Arriola, Larraitz; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Nelen, Vera; O'Mahoney, Mary; Pierini, Anna; Rissmann, Anke; Tucker, David; Boyle, Breidge; de Jong-van den Berg, Lolkje; Dolk, Helen

    2015-01-01

    Evidence of an association between early pregnancy exposure to selective serotonin reuptake inhibitors (SSRI) and congenital heart defects (CHD) has contributed to recommendations to weigh benefits and risks carefully. The objective of this study was to determine the specificity of association between first trimester exposure to SSRIs and specific CHD and other congenital anomalies (CA) associated with SSRI exposure in the literature (signals). A population-based case-malformed control study was...

  18. Congenital hepatoportal arteriovenous fistula associated with intrahepatic portal vein aneurysm and portohepatic venous shunt: case report

    International Nuclear Information System (INIS)

    A congenital hepatoportal arteriovenous fistula associated with an intrahepatic portal vein aneurysm is a rare type of arteriovenous malformation. Only 14 pediatric cases have been reported to the best of the authors' knowledge. An intrahepatic shunt between the portal and systemic veins is also relatively rare. We report a case of a congenital hepatoportal arteriovenous fistula associated with an intrahepatic portal vein aneurysm and a portohepatic venous shunt in a neonate who presented with tachypnea and melena

  19. The Role of Cardiovascular Magnetic Resonance in Adults with Congenital Heart Disease

    OpenAIRE

    Kilner, Philip J.

    2011-01-01

    The comprehensive coverage and versatility of cardiovascular magnetic resonance (CMR), providing functional as well as anatomical information, make it an important facility in a center specializing in the care of adults with congenital heart disease. Imaging specialists using CMR to investigate acquired heart disease should also be able to recognize and evaluate previously unsuspected congenital malformations. Conditions that may present or be picked up during imaging in adulthood include atr...

  20. Genetic heterogeneity in Rieger eye malformation.

    OpenAIRE

    Legius, E.; Die-Smulders, C.E. de; Verbraak, F; Habex, H; Decorte, R.; Marynen, P.; Fryns, J.P.; Cassiman, J. J.

    1994-01-01

    A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.

  1. Clinical and radiological findings in arnold chiari malformation

    International Nuclear Information System (INIS)

    Background: The Chiari Malformation I (CMI) is a disorder of uncertain origin that has been traditionally defined as downward herniation of the cerebellar tonsils through the foramen magnum. The anomaly is a leading cause of syringomyelia and occurs in association with osseous abnormalities at the cranio vertebral junction. In contrast to other Chiari malformations, CMI tends to present in the second or third decade of life and is sometimes referred to as the 'adult-type' Chiari malformation. The objective was to document clinical and radiological findings in Arnold Chiari Malformation-I. Method: This was a descriptive study carried out in Ayub Teaching Hospital Abbottabad at Neurosurgery Department during July 2008 - July 2010. We examined a prospective cohort of 60 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine. Results: There were 40 female and 20 male patients. The age of onset was 24.9 +- 15.8 years. Common associated radiological problems included syringomyelia (60%), scoliosis (25%), and basilar invagination (12%), increased cervical lordosis 5 (8.5%), and Klippel Feil syndrome 2 (3.3%). The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (70% patients), tonsillar herniation of at least 5 mm (100% patients), and varying degrees of post fossa anomalies. Linical manifestations were headaches, pseudotumor-like episodes, a Meniere's disease-like syndrome, lower cranial nerve signs, and spinal cord disturbances in the absence of syringomyelia. Conclusion: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterised by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible for headaches, pseudotumor-like episodes, endo lymphatic hydrops, syringomyelia, and hydrocephalus) and direct compression of nervous tissue. (author)

  2. Congenital fibrosis of the extraocular muscles

    Directory of Open Access Journals (Sweden)

    Cooymans Pascale

    2010-01-01

    Full Text Available Background : Congenital fibrosis of the extraocular muscles (CFEOM describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3 and the trochlear (CN 4 nerves, and/or the muscles these nerves innervate. Aim : To describe the clinical and neuro-radiological findings in three patients with CFEOM and review literature with respect to clinical features, genetics and management of this condition. Materials and Methods : A retrospective chart review was performed of three Omani patients who had been diagnosed with CFEOM in our institution. All patients had undergone standardized orthoptic and ocular evaluations and magnetic resonance imaging (MRI of the orbits and brain. Results : The three patients (age range nine months - 10 years presented a history of congenital strabismus. All patients had severe bilateral ptosis and mild to moderate visual impairment secondary to the ptosis and astigmatism. Two of three patients demonstrated a positive jaw-winking phenomenon. A moderate to large angle exotropia with varying amount of hypotropia and limitations of almost all the extra ocular muscles was noted. Patient 3 was also developmentally delayed. MRI brain and orbit showed abnormalities of the extraocular muscles in two patients and brain malformation in one patient. Conclusions : CFEOM is a rare, congenital, and non-progressive disorder with multiple extra ocular muscle restrictions. CFEOM can be associated with neuro-radiological abnormalities; its diagnosis and classification is defined by clinical characteristics and genetics. Options for treatment are limited and difficult.

  3. Congenital unilateral absence of the pulmonary artery in adults

    International Nuclear Information System (INIS)

    Unilateral absence of a pulmonary artery is a rare anomaly. It occurs with pulmonary ipsilateral hypoplasia and it's frequently associated with other cardiovascular malformations. The majority of the cases are diagnosed in childhood. This is a case report of two adult patients of the Hospital Central de la Policia Nacional in Bogota, Colombia, with unilateral absence of the pulmonary artery one isolated and the other with patent ductus arteriosus. We describe the clinical and roentgenographic findings of this congenital anomaly

  4. Congenital heart disease in the newborn requiring early intervention

    Directory of Open Access Journals (Sweden)

    Sin Weon Yun

    2011-05-01

    Full Text Available Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA, critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS, obstructed total anomalous pulmonary venous return (TAPVR, which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.

  5. A rare case of congenital heart disease with ambiguous genitalia

    OpenAIRE

    Lingaiah Kusuma; Parshwanath Bharath; Mysore Savitha; Krishnamurthy Balasundaram; Ramachandra Nallur

    2010-01-01

    Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD) is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possibl...

  6. Further analysis of familial transmission of congenital glaucoma.

    OpenAIRE

    Demenais, F.

    1983-01-01

    A re-analysis of familial transmission of congenital glaucoma is performed here using the unified model and considering, respectively, joint and conditional likelihoods. Whereas the familial aggregation of this malformation is consistent with the segregation of a recessive major gene and a high proportion of sporadic cases using conditional likelihood, this is rejected using joint likelihood. The difference in the results obtained using each of these two strategies is discussed.

  7. Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

    OpenAIRE

    Romani, Marta; Micalizzi, Alessia; Valente, Enza Maria

    2013-01-01

    Joubert syndrome (JS) is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, which diagnostic hallmark is a unique cerebellar and brainstem malformation recognizable on brain imaging, the “molar tooth sign”. Neurological signs are present from neonatal age and include hypotonia evolving into ataxia, global developmental delay, ocular motor apraxia and breathing dysregulation. These are variably associated with multiorgan involvement, mainly of the retina, kidneys,...

  8. Endoscopic management for congenital esophageal stenosis: A systematic review

    OpenAIRE

    Terui, Keita; Saito, Takeshi; Mitsunaga, Tetsuya; Nakata, Mitsuyuki; Yoshida, Hideo

    2015-01-01

    Congenital esophageal stenosis (CES) is an extremely rare malformation, and standard treatment have not been completely established. By years of clinical research, evidence has been accumulated. We conducted systematic review to assess outcomes of the treatment for CES, especially the role of endoscopic modalities. A total of 144 literatures were screened and reviewed. CES was categorized in fibromuscular thickening, tracheobronchial remnants (TBR) and membranous web, and the frequency was 54...

  9. Congenital Lateral Upper Lip Sinus: A Rare Case

    OpenAIRE

    Bhatnagar, Ankur; Musa, Osman; Gildiyal, J. P.; Pandey, Mahesh

    2012-01-01

    Congenital lateral sinuses of upper lip are malformations with uncertain etiology. These blind sinuses through orbicularis oris muscle have no intra-oral communication, with surgical excision being treatment of choice. We present our case referred to us as a patient of posttraumatic salivary fistula. Surgical management and possible etiology is discussed briefly. Also highlighted is the importance good history taking and meticulous clinical examination to accurately diagnose the entity in ord...

  10. Mild gestational diabetes as a risk factor for congenital cryptorchidism

    DEFF Research Database (Denmark)

    Virtanen, Helena E; Tapanainen, Anna E; Kaleva, Marko M; Suomi, Anne-Maarit; Main, Katharina M; Skakkebaek, Niels E; Toppari, Jorma

    2006-01-01

    CONTEXT: Cryptorchidism is the most common malformation in newborn boys. Maternal diabetes has previously been suggested to be a risk factor for this disorder in one epidemiological study. OBJECTIVE: Evaluation of the prevalence of maternal glucose metabolism disorders during pregnancy in newborn boys having normal testicular descent or congenital cryptorchidism. DESIGN: Postnatal analysis of maternal history concerning glucose metabolism abnormalities during pregnancy among cryptorchid and heal...

  11. Classification and diagnosis of ear malformations

    Directory of Open Access Journals (Sweden)

    Bartel-Friedrich, Sylva

    2007-01-01

    Full Text Available In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90% and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations or acquired in nature. Malformations can affect the outer ear (pinna and external auditory canal, EAC, middle ear and inner ear, not infrequently in combination. Formal classification is advisable in order to be able to predict the prognosis and compare treatment schedules. Various classifications have been proposed: pinna and EAC malformations according to Weerda [1], middle ear malformations according to Kösling [2], and inner ear malformations according to Jackler [3], [4], to Marangos [5] and to Sennaroglu [6]. Additionally, we describe Altmann’s classification of atresia auris congenita [7] and the Siegert-Mayer-Weerda score [8] for EAC and middle ear malformations, systems of great practicability that are in widespread clinical use. The diagnostic steps include clinical examination, audiological testing, genetic analysis and, especially, CT and MRI. These imaging methods are most usefully employed in combination. Precise description of the malformations by means of CT and MRI is indispensable for the planning and successful outcome of operative ear reconstruction and rehabilitation procedures, including cochlear implantation.

  12. Tratamiento quirúrgico de las malformaciones vasculares Surgical treatment of vascular malformations

    Directory of Open Access Journals (Sweden)

    L. Fernández-Alonso

    2004-01-01

    Full Text Available A pesar de los numerosos avances experimentados en las dos últimas décadas, el manejo de las malformaciones vasculares congénitas continúa siendo uno de los mayores enigmas de la medicina moderna sin que existan criterios claros en cuanto a las indicaciones para tratar, y mucho menos en cuanto a los procedimientos terapéuticos más apropiados para cada tipo de lesión. Los resultados del abordaje estrictamente quirúrgico son desalentadores y hoy se admite que las malformaciones vasculares congénitas deben ser atendidas y tratadas por unidades multidisciplinares aunando los esfuerzos de todos los especialistas implicados en su manejo. En este trabajo se revisan los principios generales del tratamiento quirúrgico de las malformaciones vasculares congénitas sin perder de vista que el papel tradicional de la cirugía aislada en el tratamiento de las malformaciones vasculares congénitas ha sido sustituido por el enfoque multidisciplinar de este tipo de lesiones, permitiendo que la integración de la embolización, la escleroterapia y la cirugía mejoren los resultados. La combinación de estas técnicas reduce el riesgo y las complicaciones que existían cuando eran aplicadas de forma aislada. Por tanto, el tratamiento quirúrgico debe considerarse, no como una herramienta de tratamiento independiente sino como un arma terapéutica integrada en el conjunto de medidas encaminadas a mejorar la calidad de vida del paciente con una malformación vascular congénitaIn spite of the numerous advances made over the last two decades, the treatment of congenital vascular malformations continues to be one of the greatest enigmas facing modern medicine. There are no clear criteria concerning the indications to be followed, and even less concerning the most appropriate therapeutic procedures for each type of lesion. The results of a strictly surgical approach are discouraging and today it is accepted that congenital vascular malformations should be attended to and treated by multidisciplinary units, combining the efforts of all the specialists involved in its treatment. This paper reviews the general principles of surgical treatment of congenital vascular malformations, without losing sight of the fact that the traditional role of isolated surgery in the treatment of congenital vascular malformations has been replaced by a multidisciplinary approach to this type of lesions, making it possible to integrate embolization, sclerotherapy and surgery to improve the results. The combination of these techniques reduces the risk and complications that existed when they were applied in an isolated form. Thus, surgical treatment should not be considered as an independent tool of treatment but as a therapeutic weapon integrated in the ensemble of measures directed at improving the quality of life of the patient with a congenital vascular malformation.

  13. Tratamiento quirúrgico de las malformaciones vasculares / Surgical treatment of vascular malformations

    Scientific Electronic Library Online (English)

    L., Fernández-Alonso.

    Full Text Available A pesar de los numerosos avances experimentados en las dos últimas décadas, el manejo de las malformaciones vasculares congénitas continúa siendo uno de los mayores enigmas de la medicina moderna sin que existan criterios claros en cuanto a las indicaciones para tratar, y mucho menos en cuanto a los [...] procedimientos terapéuticos más apropiados para cada tipo de lesión. Los resultados del abordaje estrictamente quirúrgico son desalentadores y hoy se admite que las malformaciones vasculares congénitas deben ser atendidas y tratadas por unidades multidisciplinares aunando los esfuerzos de todos los especialistas implicados en su manejo. En este trabajo se revisan los principios generales del tratamiento quirúrgico de las malformaciones vasculares congénitas sin perder de vista que el papel tradicional de la cirugía aislada en el tratamiento de las malformaciones vasculares congénitas ha sido sustituido por el enfoque multidisciplinar de este tipo de lesiones, permitiendo que la integración de la embolización, la escleroterapia y la cirugía mejoren los resultados. La combinación de estas técnicas reduce el riesgo y las complicaciones que existían cuando eran aplicadas de forma aislada. Por tanto, el tratamiento quirúrgico debe considerarse, no como una herramienta de tratamiento independiente sino como un arma terapéutica integrada en el conjunto de medidas encaminadas a mejorar la calidad de vida del paciente con una malformación vascular congénita Abstract in english In spite of the numerous advances made over the last two decades, the treatment of congenital vascular malformations continues to be one of the greatest enigmas facing modern medicine. There are no clear criteria concerning the indications to be followed, and even less concerning the most appropriat [...] e therapeutic procedures for each type of lesion. The results of a strictly surgical approach are discouraging and today it is accepted that congenital vascular malformations should be attended to and treated by multidisciplinary units, combining the efforts of all the specialists involved in its treatment. This paper reviews the general principles of surgical treatment of congenital vascular malformations, without losing sight of the fact that the traditional role of isolated surgery in the treatment of congenital vascular malformations has been replaced by a multidisciplinary approach to this type of lesions, making it possible to integrate embolization, sclerotherapy and surgery to improve the results. The combination of these techniques reduces the risk and complications that existed when they were applied in an isolated form. Thus, surgical treatment should not be considered as an independent tool of treatment but as a therapeutic weapon integrated in the ensemble of measures directed at improving the quality of life of the patient with a congenital vascular malformation.

  14. Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

    Energy Technology Data Exchange (ETDEWEB)

    Braun, Petra; Grau, Francisco Vercher; Pons, Raul Mut; Enguix, Daniel Perez

    2005-02-01

    Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended.

  15. Endovascular treatment of cerebral arteriovenous malformations and Dural arteriovenous malformations

    International Nuclear Information System (INIS)

    Objective: To report our experience with the endovascular management of cerebral arteriovenous malformations and dural arteriovenous fistulas. Methods: Fifty patients (66% males and 34% females) with cerebral arteriovenous malformations and dural arteriovenous fistulas were treated in our department between September 2007 and April of 2010 using endovascular therapy. A total of 84 endovascular procedures were performed. N-butyl cyanoacrylate Histoacryl was the embolic material used in 76% of the cases; Onyx alone was used in 20%, Onyx and coils combined in 3.6%. Results: The most common symptoms were headache, epileptic seizures and intracranial hemorrhage. Thirty-two percent of the patients were cured using embolization as the only therapeutic technique, meaning that a higher number of patients were cured in just one session. Thirty-eight percent of all patients underwent a surgical resection or radiosurgical treatment after nodal size reduction through endovascular treatment. The overall reported complications were 5.9%. Conclusion: Cerebral arteriovenous malformations and dural arteriovenous fistulas are complex lesions with a potential risk for intracranial hemorrhages. Endovascular therapy is safe and effective, and together with surgery and radiosurgery, is an essential component of the multimodal approach to this problem.

  16. Functional scintiscanning of the liver in early infancy suspecting congenital atresia of the biliary tract

    International Nuclear Information System (INIS)

    Abdominal sequential scintigrams were made in 78 icteric infants by means of 131I-Bengal rose or 131I-bromosulfan to diagnose congenital malformations of the biliary tract and to judge the indication of an operation as well as for postoperative check-up

  17. Parkes-Weber syndrome associated with a congenital short femur of the affected limb.

    Science.gov (United States)

    Fernandez-Pineda, I; Lopez-Gutierrez, J C

    2009-03-01

    The association of capillary malformation, high-flow arteriovenous fistulas, and limb hypertrophy corresponds to Parkes-Weber syndrome. Most of cases are sporadic, although a first familial case has been recently reported. We report the first observation of a Parkes-Weber vascular anomaly with an underlying congenital short femur. PMID:18835518

  18. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  19. Congenital peribronchial myofibroblastic tumor: prenatal imaging clues to differentiate from other fetal chest lesions

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Bitters, Constance; Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Lim, Foong-Yen [Cincinnati Children' s Hospital Medical Center, Department of Pediatric Surgery and Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Stanek, Jerzy [Cincinnati Children' s Hospital Medical Center, Department of Pathology, Cincinnati, OH (United States)

    2014-04-15

    We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. (orig.)

  20. [Arteriovenous malformation of the left upper limb in stage II of Schöbinger: A case report in Madagascar].

    Science.gov (United States)

    Raherinantenaina, F; Rajaonanahary, T M A; Randriamandrato, T A V; Rakotomena, S D; Rajaonarivony, T; Rakoto Ratsimba, H N

    2015-09-01

    Arteriovenous malformations are the most unpredictable and dangerous congenital malformations. They consist of multiple arteriovenous shunts with high flow and can progress to heart failure. They are rarely localized in the upper limb and pose therapeutic problems. We report a new case in a 27-year old woman, admitted for pulsatile pain in the left elbow. The diagnosis was made by clinical examination and ultrasonography. The surgical treatment without embolization and sclerotherapy, consisted of a large resection of the nidus without postoperative complication. PMID:24035259

  1. De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.

    Science.gov (United States)

    Sudha, T; Dawson, A J; Prasad, A N; Konkin, D; de Groot, G W; Prasad, C

    2001-07-01

    We report an 8-year-old girl with coarse facial features, macrocrania and developmental delay. Cranial anomalies in the form of hydrocephalus and Dandy-Walker (DW) variant malformation were detected on neuro-imaging. Karyotyping revealed a de novo interstitial deletion of bands 3q25.1 to 3q25.33. Deletion of the 3q24-q26 region appears to be associated with a somewhat similar constellation of findings of craniofacial dysmorphism (broad and depressed nasal bridge and low set posteriorly rotated ears), mental retardation, congenital heart defects, and central nervous system malformations. PMID:11446413

  2. Perinatal risk factors including malformation

    International Nuclear Information System (INIS)

    The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG)

  3. Study of various congenital anomalies in fetal and neonatal autopsy

    Directory of Open Access Journals (Sweden)

    V. Siva Sankara Naik

    2015-05-01

    Full Text Available Background: The study of dead is to save the livings. The growing awareness that still births and infant mortalities are unable to reduction has led to a wide spread desire for more information regarding the cause of these deaths. Congenital malformations have become important cause of fetal and neonatal (perinatal mortality in developed countries and would very soon be increasingly important determinants of fetal and neonatal mortality in developing countries like India. In spite of antenatal diagnostic modality still the fetal autopsy plays the vital role in the conformation as well as identification of congenital anomalies and also for the counseling of the parents, to prevent the fetal congenital anomalies in further pregnancies. This study was undertaken with the purpose of finding out cause of death during the perinatal period at government maternity hospital and pediatric department S.V.R.R.G.G.H. and S.V. medical college Tirupati, and to study the clinical and pathological findings (Gross and microscopic in fetal and neonatal death. Methods: The present study of congenital anomalies in fetal and neonatal deaths was done at S.V. medical college, Tirupati, over a time period of 2 years from September 2008 to 2010 August. Consent for autopsy in requested compassionately, respectfully and fully informed. The present study included dead fetus and neonates with gestational age above 20 weeks of intra uterine life and within 7 days of post natal life. All fetuses of gestational age <20 weeks and all neonates above 7 days of age were excluded from the study. The study also obtained clearance from the ethical committee of the institution. Autopsy was performed by standard technique adopted by Edith L. Potter. External and internal findings followed by histopathological examination, and autopsy findings were compared with available ultrasound findings. Results: A total of 46 Autopsies performed, 40 (87% were fetal deaths, 6 (13% were early neonatal deaths. In a total of 46 fetuses, there were 13 male and 33 female babies. On external examination of 46 fetal and Neonatal (perinatal deaths, 8 (17.39% babies showed congenital malformation. On internal examination of the 46 fetal and Neonatal (perinatal deaths, 4 babies showed internal congenital anomalies. A total of 46 anatomical and histopathologic examinations were done among fetal and neonatal (perinatal deaths. Out of 13 autopsies on male babies, 2 had congenital malformation and 33 autopsies on female babies, 7 had congenital malformations. Congenital anomalies were commonest in the birth weight group of 1000-1500 grams accounting for 9 cases. Malformations of central nervous system (33.33% were most common followed by musculoskeletal system (16.66%, genitourinary and respiratory system (8.33% respectively. Conclusion: Most number of perinatal deaths occurred in low birth weight and preterm babies. Study of malformations greatly helpful in genetic counseling and prenatal diagnosis in successive pregnancies. [Int J Res Med Sci 2015; 3(5.000: 1114-1121

  4. Frequency of spontaneous congenital defects in rhesus and cynomolgus macaques.

    Science.gov (United States)

    Peterson, P E; Short, J J; Tarara, R; Valverde, C; Rothgarn, E; Hendrickx, A G

    1997-10-01

    This paper summarizes the spontaneous incidence of congenital defects in the rhesus and cynomolgus macaque colonies (Macaca mulatta and M. fascicularis) at the California Regional Primate Research Center. The computerized database used in this analysis included fetuses, term infants, juveniles, and adults that underwent a necropsy procedure over a 14-year period (1983-1996). The calculated malformation rates were 0.9% (40/4,390) and 0.3% (3/965) for the rhesus and cynomolgus monkey, respectively. Most of the observed malformations in both species affected the musculoskeletal and the cardiovascular systems, while a smaller number of defects were observed in the gastrointestinal, urogenital, endocrine, and central nervous systems. Inbreeding did not contribute to the spontaneous malformation incidence and there was no predilection for sex (male vs. female) or housing (indoors vs. outdoors) among the malformed cases. This spontaneous malformation database in our macaque colony aids in the interpretation of defects that occur in an experimental study as well as in the ongoing assessment of a healthy nonhuman primate breeding colony. PMID:9437266

  5. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    DEFF Research Database (Denmark)

    Longoni, Mauro; Hansen, Kasper Lage; Russell, Meaghan K.; Loscertales, Maria; Abdul?Rahman, Omar A.; Baynam, Gareth; Bleyl, Steven B.; Brady, Paul D.; Breckpot, Jeroen; Chen, Chih P.; Devriendt, Koenraad; Gillessen?Kaesbach, Gabriele; Grix, Arthur W.; Rope, Alan F.; Shimokawa, Osamu; Strauss, Bernarda; Wieczorek, Dagmar; Zackai, Elaine H.; Coletti, Caroline M.; Maalouf, Faouzi I.; Noonan, Kristin M.; Park, Ji H.; Tracy, Adam A.; Lee, Charles; Donahoe, Patricia K.; Pober, Barbara R.

    2012-01-01

    Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high?resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub?band 8p23.1. We confirm a region involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing protein–protein interactions between products of genes in the 8p23.1 hotspot and products...

  6. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    DEFF Research Database (Denmark)

    Longoni, Mauro; Hansen, Kasper Lage; Russell, Meaghan K; Loscertales, Maria; Abdul-Rahman, Omar A; Baynam, Gareth; Bleyl, Steven B; Brady, Paul D; Breckpot, Jeroen; Chen, Chih P; Devriendt, Koenraad; Gillessen-Kaesbach, Gabriele; Grix, Arthur W; Rope, Alan F; Shimokawa, Osamu; Strauss, Bernarda; Wieczorek, Dagmar; Zackai, Elaine H; Coletti, Caroline M; Maalouf, Faouzi I; Noonan, Kristin M; Park, Ji H; Tracy, Adam A; Lee, Charles; Donahoe, Patricia K; Pober, Barbara R

    2012-01-01

    Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high-resolution arrays in patients who carry a loss (n?=?18) or a gain (n?=?1) of sub-band 8p23.1. We confirm a region involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing protein-protein interactions between products of genes in the 8p23.1 hotspot and products...

  7. Congenital heart disease and chromossomopathies detected by the karyotype

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2014-06-01

    Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

  8. Spontaneous ileal perforation complicating low anorectal malformation

    Directory of Open Access Journals (Sweden)

    TiJesuni Olatunji

    2015-01-01

    Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

  9. 1q21.1 microduplication in a patient with mental impairment and congenital heart defect.

    Science.gov (United States)

    Sun, Guowen; Tan, Zhiping; Fan, Liangliang; Wang, Jian; Yang, Yifeng; Zhang, Weizhi

    2015-10-01

    1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple malformations, including congenital heart defect, mental impairment and developmental delay. The parents and the monozygotic twin sister of the patient, however, were physically and psychologically normal. High?resolution genome?wide single nucleotide polymorphism array revealed a 1.6?Mb duplication in chromosome region 1q21.1. This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis. However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion. To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China. PMID:26238956

  10. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    International Nuclear Information System (INIS)

    There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

  11. Effect of Fungicides on Mango Malformation

    OpenAIRE

    Faqir Muhammad; Muhammad Ibrahim; M. Aslam Pervez

    1999-01-01

    Present studies were carried out to observe the effect of fungicides on mango malformation. The fungicides i.e. Benlate and Topsin-M were used at the rate of 0.2 per cent. Spray was made in July with an idea to control the mango malformation which was found more frequent on late season flushes. Both the fungicides reduced the incidence of malformation during the next blooming season. More number of malformed panicles were observed on untreated plants than treated ones. Among fungicides, Benla...

  12. Risk factors for Dandy-Walker malformation: a population-based assessment.

    Science.gov (United States)

    Reeder, Matthew R; Botto, Lorenzo D; Keppler-Noreuil, Kim M; Carey, John C; Byrne, Janice L B; Feldkamp, Marcia L

    2015-09-01

    Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, but its causes are largely unknown. An increasing number of genes associated with congenital cerebellar malformations have been identified; however, few studies have examined the potential role of non-genetic, potentially modifiable risk factors. From the National Birth Defects Prevention Study, we examined maternal, paternal, and infant characteristics and maternal conditions and periconceptional exposures (from 1 month before to 3 months after conception) among infants with DWM (n?=?160) and unaffected controls (n?=?10,200), delivered between 1997 and 2009. Odds ratios, crude (cOR) and adjusted (aOR) were computed using logistic regression. Maternal factors associated with DWM included non-Hispanic black race/ethnicity (aOR?=?2.0, 95%CI: 1.3-3.2). Among maternal conditions, a history of infertility increased the risk for DWM (all: aOR?=?2.4, 95%CI: 1.3-4.6; multiple: aOR?=?3.9, 95%CI: 1.7-8.9). The lack of association with many maternal exposures supports the hypothesis of a major contribution of genetic factors to the risk for DWM; however, the observed associations with maternal non-Hispanic black race/ethnicity and maternal history of infertility indicate that further research into factors underlying these characteristics may uncover potentially modifiable risk factors, acting alone or as a component of gene-environment interactions. PMID:25941000

  13. Malformación adenomatoidea quística pulmonar / Pulmonary cystic adenomatoid malformation

    Scientific Electronic Library Online (English)

    Adis Luisa, Peña Cedeño; Maritza, Pardo Mederos; Elizabeth, Quesada Alemán; Teresa Eufemia, Argüelles Mederos.

    2012-09-01

    Full Text Available Introducción: la malformación adenomatoidea quística pulmonar descrita por Bartholinuis en 1687 es una entidad poco frecuente, caracterizada por un sobrecrecimiento de bronquiolos principales terminales los cuales sustituyen a los alveolos, produciendo aumento de volumen del lóbulo afectado. Objetiv [...] o: mostrar los hallazgos necrópsicos de un caso de malformación adenomatoidea quística congénita pulmonar, utilizando la clasificación propuesta por Stocker y otros. Métodos: se realiza revisión de la literatura sobre la entidad y de la historia clínica de la gestante. Resultados: se trata de una gestante de 21 años que acude al Hospital Ginecobstétrico Docente de Guanabacoa en el mes de febrero del 2010 para interrupción de la gestación por presentar un ultrasonido que a las 24 sem mostró la presencia de quistes pulmonares, desplazamiento del mediastino, hidrotórax, ascitis y polihidramnios. Este proceder se realizó con éxito y se hizo el estudio anatomopatológico del feto. Conclusiones: se diagnosticó malformación adenomatoidea quística pulmonar tipo III en una edad gestacional temprana, una alteración pulmonar poco frecuente, que permitió la decisión informada para la interrupción de la gestación. Abstract in english Introduction: congenital cystic adenomatoid malformation of the lung described by Bartholinuis in 1687 is a rare entity characterized by an overgrowth of the main terminal bronchioles which replaced the alveoli, causing enlargement of the affected lobe. Objective: to show the autopsy findings of a c [...] ase of congenital cystic adenomatoid malformation of the lung, using the classification proposed by Stocker and others. Methods: literature review on organizational and medical records of pregnant women is conducted. Results: this is a twenty- one year- old pregnant woman who goes to the Gynecobstetric Teaching Hospital of Guanabacoa in February 2010 for termination of pregnancy since an ultrasound at 24 weeks showed the presence of lung cysts, mediastinal shift, hydrothorax, ascites, and polyhydramnios. This approach was successful and the pathology study of the fetus was performed. Conclusions: type III cystic adenomatoid lung malformation was diagnosed in early gestation, which is a rare lung disorder. This situation allowed informed decision for termination of pregnancy.

  14. Association of preterm birth with brain malformations

    OpenAIRE

    Brown, William R.

    2009-01-01

    This study investigates the rate of preterm birth in babies with congenital brain defects. Autopsy case reports of congenital brain anomalies were obtained from the literature. The control cases were from a large registry, a published report from the Metropolitan Atlanta Congenital Defects Program. From 428 publications, 1168 cases were abstracted that had autopsy studies of congenital brain defects and information on the gestational age at birth. The control data from Atlanta included 7738 i...

  15. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

    Science.gov (United States)

    Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A; Chizhikov, Victor V; Sudi, Jyotsna; Christian, Susan L; Ullmann, Reinhard; Kuechler, Alma; Haas, Carola A; Flubacher, Armin; Charnas, Lawrence R; Uyanik, Gökhan; Frank, Ulrich; Klopocki, Eva; Dobyns, William B; Kutsche, Kerstin

    2008-09-01

    CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation. PMID:19165920

  16. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Nahvi H.

    2007-09-01

    Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

  17. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

    Science.gov (United States)

    Bourchany, A; Giurgea, I; Thevenon, J; Goldenberg, A; Morin, G; Bremond-Gignac, D; Paillot, C; Lafontaine, P O; Thouvenin, D; Massy, J; Duncombe, A; Thauvin-Robinet, C; Masurel-Paulet, A; Chehadeh, S El; Huet, F; Bron, A; Creuzot-Garcher, C; Lyonnet, S; Faivre, L

    2015-07-01

    Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. PMID:25899569

  18. Subfascial involvement in glomuvenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shaikh, Raja; Alomari, Ahmad I.; Chaudry, Gulraiz [Boston Children' s Hospital, Division of Interventional Radiology, Boston, MA (United States); Mulliken, John B. [Boston Children' s Hospital, Division of Plastic Surgery, Boston, MA (United States); Fishman, Steven J. [Boston Children' s Hospital, Department of Surgery, Boston, MA (United States); Kozakewich, Harry P.W. [Boston Children' s Hospital, Department of Pathology, Boston, MA (United States)

    2014-07-15

    Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

  19. Cerebellar arteriovenous malformations in children

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)

    1998-05-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

  20. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft; Olsen, Jørn

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980–1996. Results: Of 38,151 pregnant women who had newborn infants without any congenital abnormalities (population control group), 774 (3.4%); of 22,865 case pregnant women who had newbo...

  1. Genetics Home Reference: Congenital afibrinogenemia

    Science.gov (United States)

    ... What is congenital afibrinogenemia? Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. ... with congenital afibrinogenemia can have abnormally heavy menstrual ... women with this disorder may have difficulty carrying a pregnancy to term, ...

  2. Utility of spinal MRI in children with anorectal malformation

    International Nuclear Information System (INIS)

    The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion. (orig.)

  3. Cisto extradural congênito / Congenital extradural cyst: a case report

    Scientific Electronic Library Online (English)

    Nubor O., Facure; F. J. Monteiro, Salles; José J., Facure; José, Zaclis.

    1970-06-01

    Full Text Available Relato de um caso de cisto extradural congênito operado com sucesso. A importância do estudo radiológico da coluna vertebral é salientada. No caso relatado foi verificado, pelo exame radiológico contrastado, existir uma comunicação entre o cisto e o espaço subaracnóideo. Os autores chamam a atenção [...] para a necessidade da intervenção cirúrgica em tempo hábil para prevenir lesão permanente da medula espinal. Abstract in english A case of congenital extradural cyst successfully operated is reported. The value of the radiographic examinations of vertebral colum is emphazised. Comunication betwen the cyst and subarachnoidal space was detected mielographically. Early diagnosis followed by prompt surgery may prevent permanent s [...] pinal cord damage.

  4. Vertebral osteomyelitis without disc involvement

    International Nuclear Information System (INIS)

    Vertebral osteomyelitis is most commonly due to pyogenic or granulomatous infection and typically results in the combined involvement of the intervertebral disc and adjacent vertebral bodies. Non-infective causes include the related conditions of chronic recurrent multifocal osteomyelitis (CRMO) and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome. Occasionally, these conditions may present purely within the vertebral body, resulting in various combinations of vertebral marrow oedema and sclerosis, destructive lesions of the vertebral body and pathological vertebral collapse, thus mimicking neoplastic disease. This review illustrates the imaging features of vertebral osteomyelitis without disc involvement, with emphasis on magnetic resonance imaging (MRI) findings

  5. Vertebral osteomyelitis without disc involvement

    Energy Technology Data Exchange (ETDEWEB)

    Kamani, I.; Syed, I.; Saifuddin, A. E-mail: asaifuddin@aol.com; Green, R.; MacSweeney, F

    2004-10-01

    Vertebral osteomyelitis is most commonly due to pyogenic or granulomatous infection and typically results in the combined involvement of the intervertebral disc and adjacent vertebral bodies. Non-infective causes include the related conditions of chronic recurrent multifocal osteomyelitis (CRMO) and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome. Occasionally, these conditions may present purely within the vertebral body, resulting in various combinations of vertebral marrow oedema and sclerosis, destructive lesions of the vertebral body and pathological vertebral collapse, thus mimicking neoplastic disease. This review illustrates the imaging features of vertebral osteomyelitis without disc involvement, with emphasis on magnetic resonance imaging (MRI) findings.

  6. Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

    OpenAIRE

    Tao Zhang, Xiao Bing Tang, Li Li Wang, Yu Zuo Bai, Guang Rong Qiu, Zheng Wei Yuan, Wei Lin Wang

    2013-01-01

    Background: Anorectal malformations (ARMs) represent a variety of congenital disorders that involve abnormal termination of the anorectum. This study was to reveal relation between CDX1 and human ARMs phenotypes.Methods: 108 Chinese patients and 120 Chinese controls were included in this study. We analyzed the relation between two by PCR, qRT-PCR, western blot and immunofluorescence.Results: Four heterozygous mutations in CDX1 gene were identified in ARMs patients (3.7%, 4/108), no found in c...

  7. Recurrence of a paediatric arteriovenous malformation 9 years postcomplete excision: case report and review of literature.

    LENUS (Irish Health Repository)

    McCarthy, Claire

    2012-01-01

    Cerebral arteriovenous malformations (AVMs) are a common congenital vascular anomaly, which often present in both children and adults. Surgery is considered curative once postoperative angiography confirms the absence of vessels. We describe a 6-year-old girl, who had a Spetzler-Martin Grade II AVM resected successfully, in which a recurrent AVM was detected on routine follow-up over 9 years post excision. The aetiopathogenesis of this rare occurrence with a review of literature is discussed. Long-term postoperative follow-up in the form of MRI\\/MR angiogram is recommended for all fully resected AVMs in the paediatric age group, anticipating the possibility of future recurrence.

  8. Imaging of intracranial aneurysms and malformations

    International Nuclear Information System (INIS)

    Full text: Intracranial aneurysm is an abnormal dilatation of the artery, and is found in 1% to 14% of the population. In ninety percent cerebral aneurysms are saccular and develop from the arteries of the circle of Willis or its major branches.The anterior communicating artery represent the most frequent aneurysm (ACoA) 30-35%, by internal carotid artery (ICA) 30%, middle cerebral artery (MCA) 22%, and the posterior circulation 8-10%. Aneurysms typically become symptomatic between the age of 40 to 60 years, after they rupture, producing subarachnoid hemorrhage (SAH) or intracerebral hematomas. Less common are giant aneurysms usually found in middle-aged women and present with signs more indicative of a mass lesion. Vascular malformations of the brain are abnormal arrangements of some of the blood vessels in head. There are several types, each affecting a different part of this network of arteries, capillaries and veins. Can be classified on: Vascular malformations with A-V shunting (Arteriovenous malformations, Dural A-V fistulas, and Vein of Galen malformation), and Vascular malformations without A-V shunting (Developmental venous anomaly, Sinus pericranii, Cavernous malformation, and Capillary telagiectasia). CT angiography (CTA) has been proven to be an excellent tool to visualize intracranial arteries. The average sensitivity of CTA for the detection of intracranial aneurysms reaches 90%. Post-processing allows assessment of the aneurysm and vascular malformation with maximum intensity projections (MIP) and surface rendered 3D projections in multiple plains. MR angiography (MRA) is a particle and noninvasive tool for screening of high-risk individuals for aneurysms and vascular malformations. DSA is diagnostic method of choice for assessment of intracranial aneurysms and vascular malformations, and was considered to be a 'gold standard' for evaluation of cerebral vessels

  9. A complex malformation in a pig: case report and review of the literature.

    Science.gov (United States)

    Reiner, G; Hecht, W; Burkhardt, S; Köhler, K; Haushahn, P; Reinacher, M; Erhardt, G

    2008-05-01

    Congenital defects like myofibrillar dysplasia (splayleg), umbilical and inguinal hernias, cryptorchism, intersexes, and anal atresia occur relatively frequently in swine. On the other hand, some developmental anomalies like double monsters are very rare. The present paper reports a rare case of a congenital complex malformation including polymelia, duplicitas coli partialis et recti, atresia ani et fistula rectogenitalis, duplicitas corpori uteri, cervicis, vaginae et vulvae and duplicitas vesicae, urethrae et renalis. A plausible interpretation concerning the etiology is that the anomalies arose from unequal partial twinning. The pig has been healthy and inconspicuous. Although no anus was formed defecation took place via a fistula to one of the vaginas. Posture and behaviour of the pig were normal. Cytogenetic analysis of blood lymphocytes revealed no numerical or gross structural anomalies. There have been no further piglets with developmental disorders in the same litter, in a second litter of the same parents and in other twelve litters by the same boar. PMID:18547020

  10. Suprasellar cavernous malformation presenting with extensive subarachnoid hemorrhage

    International Nuclear Information System (INIS)

    Cavernous malformations are usually intraparenchymal, extra-axial lesions being uncommon. They have very rarely been reported as the cause of subarachnoid hemorrhage. We present a case of hemorrhage related to a cavernous malformation, unusual in two ways. First, it is rare for an intracranial cavernous malformation to present with massive subarachnoid hemorrhage. Secondly, this cavernous malformation lay in the chiasmatic cistern. (orig.)

  11. Computed tomography and magnetic resonance imaging of congenital abnormalities of the temporal bone

    International Nuclear Information System (INIS)

    Congenital abnormalities of the temporal bone are mostly accompanied by conductive or sensori-neural hearing loss. Before any therapeutic procedures are done high resolution CT (HRCT) and magnetic resonance imaging (MRI) should be performed to establish the correct diagnosis and to plan the potentially surgical intervention. HRCT best depicts osseous changes especially those of the external auditory canal and the middle ear containing the ossicles and the osseous structures of the temporal bone and the petrous bone containing the inner ear. MRI excellently shows soft tissue changes of the inner ear especially on the high resolution 3DT2-weighted sequences which give a superb contrast between the nerves and the cerebro-spinal fluid. Malformations of the external auditory canal consists of aplasia or hypoplasia and those of the middle ear range form extreme hypoplasia or aplasia to very mild deformations of the ossicles. Malformations of the inner ear also range form complete aplasia to very mild hypoplasia of the organs of the inner ear as well as malformations concerning the nerves in the internal auditory canal range from aplasia to hypoplasia. Malformations of the temporal bone can either occur isolated or in combination in which malformations of the external and middle ear may be accompanied by those of the inner ear. Furthermore, malformations of the temporal bone may also occur in otofacial, otocervical or otoskeletal syndromes. These syndromes may be accompanied by certain malformations of the temporal bone. HRCT and MRI are both excellent methods to depict congenital abnormalities of the temporal bone and of the inner ear and should be used as complementary methods because HRCT best depicts osseous changes and MRI superbly depicts soft tissue changes. Both methods are important to establish the correct diagnosis to plan the therapeutic procedures. (orig.)

  12. Sonocubic fine: new three-dimensional ultrasound software to the screening of congenital heart diseases

    Directory of Open Access Journals (Sweden)

    Edward Araujo Júnior

    2014-09-01

    Full Text Available Congenital heart disease is the most common fetal congenital malformations; however, the prenatal rate detection still is low. The two-dimensional echocardiography is the "gold standard" exam to screening and diagnosis of congenital heart disease during the prenatal; however, this exam is operator-depending and it is realized only in high risk pregnancies. Spatio-temporal image correlation is a three-dimensional ultrasound software that analyses the fetal heart and your connections in the multiplanar and rendering modes; however, spatio-temporal image correlation too is operator-depending and time-consuming. We presenting a new three-dimensional software named Sonocubic fine to the screening of congenital heart disease. This software applies intelligent navigation technology to spatio-temporal image correlation volume datasets to automatically generate nine fetal echocardiography standard views. Thus, this new software tends to be less operator-depending and time-consuming.

  13. Glomuvenous malformation: magnetic resonance imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D. [University of Virginia Health System, Department of Radiology and Medical Imaging, Charlottesville, VA (United States)

    2014-07-05

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. (orig.)

  14. Prenatally-detected giant lymphatic malformation

    DEFF Research Database (Denmark)

    Sværdborg, Mille; Keller, Johnny; Schrøder, Henrik; Petersen, Olav Bjørn; Stausbøl-Grøn, Brian; Engberg Damsgaard, Tine

    2011-01-01

    Abstract We present a case of a giant lymphatic malformation of the chest and abdominal wall that was diagnosed in the third trimester of pregnancy. It was treated by one stage excision with good functional and cosmetic outcomes.

  15. Genetics Home Reference: Cerebral cavernous malformation

    Science.gov (United States)

    ... cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls, and they lack other ...

  16. Malformed frog survey Dahomey NWR - 2001

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report contains field data sheets assoicated with malformed frog survey on Dahomey NWR in 2001. Work was done in support of regional sampling on refuges for...

  17. Glomuvenous malformation: magnetic resonance imaging findings

    International Nuclear Information System (INIS)

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. (orig.)

  18. Current Status of Mango Malformation in India

    OpenAIRE

    Dinesh Raj Modi; Ashok Kumar Misra; Pradeep Kumar

    2011-01-01

    Mango (Mangifera indica L.) occupies a pre-eminent place amongst fruit crops in India and is acknowledged as ‘King of fruits’ in the country. Malformation is the most threatening malady that causes great economic loss and limits the mango production in India and among tropical and subtropical countries around the globe. Floral malformation, in contrast to vegetative one, is very virulent and can cause the loss of the entire crop. Affected panicles either do not set fruit or abort fruit shortl...

  19. Syringomyelia associated with Chiari malformation in children

    International Nuclear Information System (INIS)

    Among 28 patients with myelomeningocele (MMC group), the myelomeningocele in all patients was repaired shortly after birth, and a shunt was implanted for the associated hydrocephalus in 18 patients. MRI of the group of 28 indicated 20 were afflicted with Chiari II malformation, and the remaining 8 by Chiari I malformation. Among 8 patients lacking myelomeningocele (non-MMC group), seven demonstrated a large syrinx at the cervical and cervico-thoracic level; only one had a syrinx extending from the cervical level down to the lumbar level. None of these patients had hydrocephalus. Surgical decompression to improve cerebrospinal fluid (CSF) flow at the major cistern improved neurological signs in 7 patients. MRI indicated 4 patients were afflicted with Chiari I malformation, and the remaining 4 with Chiari II malformation. In the MMC group, the initial development of the syrinx at the lumbar level may be the result of a combination of occlusion of the caudal end of the central canal brought about by repair of the myelomeningocele and CSF flow into the hydromyelic cavity via the patent proximal portion of the central canal. In the non-MMC group, the syringomyelia may be considered an early onset type of syringomyelia associated with adult type Chiari malformation because the location of the syrinx was quite similar to that found in adult type Chiari malformation, and decompressive surgery was quite effective. In the non-MMC group, turbulence of the CSF now at the major cistern caused by the herniated cerebellum plays an important role in the enlargement of the syringomyelia. To offer greater appropriate management of pediatric Chiari malformation accompanied by syringomyelia, the malformation should be classified not by degree of the herniated brain tissue but by its association with neural tube defect (myelomeningocele). (K.H.)

  20. Osteomielitis vertebral piógena Pyogenic vertebral osteomyelitis

    Directory of Open Access Journals (Sweden)

    Pedro P. Perrotti

    2009-10-01

    Full Text Available La osteomielitis vertebral piógena (OVP es una localización poco frecuente (2-7% Se confirma con el aislamiento de un microorganismo de una vértebra, disco intervertebral, absceso epidural o paravertebral. Se describe una serie de casos por la infrecuente presentación de esta enfermedad, que puede ser consulta inicial en los servicios de clínica médica y por su sintomatología inespecífica que supone una dificultad diagnóstica. Tanto la columna lumbar como la dorsal fueron los sitios más afectados. El dolor dorsolumbar y la paraparesia fueron los síntomas más frecuentes de presentación. En ocho pacientes se aislaron Staphylococcus aureus, en uno Escherichia coli y en el restante Haemophylus sp. Se observó leucocitosis sólo en tres pacientes, y en dos velocidad de sedimentación globular mayor de 100 mm/h. Los diez pacientes presentaron imágenes características de osteomielitis vertebral piógena en la resonancia nuclear magnética. Dentro de las complicaciones, los abscesos paravertebrales y epidurales fueron los más frecuentes (en cinco enfermos. Además, un paciente presentó empiema pleural. De los diez pacientes de esta serie, siete recibieron inicialmente tratamiento médico empírico y luego específico para el germen aislado. En los restantes el tratamiento fue guiado de acuerdo al antibiograma. A dos enfermos fue necesario realizarles laminectomía descompresiva por compromiso de partes blandas y a otros dos estabilización quirúrgica por inestabilidad espinal, observándose buena evolución en todos los casos. Esta serie demuestra que, ante un paciente con dolor dorsolumbar y síntomas neurológicos se deberá tener en cuenta esta entidad para evitar un retraso en el tratamiento.Pyogenic osteomyelitis seldom affects the spine (2-7%. It is diagnosed by the isolation of a bacterial agent in the vertebral body, the intervertebral disks or from paravertebral or epidural abscesses. We report a retrospective study of ten patients who attended a medical clinic with this disease to emphasize its unusual presentation and difficult diagnosis. Lumbar and dorsal spine were the most common sites affected. Dorsolumbar pain and paraparesis were the most frequent symptoms. Staphylococcus aureus were isolated in eight patients, Escherichia coli in one and Haemophilus sp. in other Leukocytosis was observed in only three patients. Erythrocyte sedimentation rate was higher than 100 mm in the first hour in two patients. Typical images of pyogenic vertebral osteomyelitis were observed in all these patients with magnetic resonance imaging. The main complications were paravertebral and epidural abscesses that were found in five patients. One patient also presented an empyema, seven of them initially received empiric medical treatment, and later specific antibiotics according to the culture and sensitivity results. The rest of the patients were initially treated according to the sensitivity of the isolated germ. Surgical intervention was performed in two patients to drain soft tissue involvement, and in two other to stabilize the spine. All four surgical patients had a full recovery. This report is intended to point out that in patients with dorsolumbar pain and neurological symptoms pyogenic vertebral osteomyelitis is a possible diagnosis and has to be treated without delay.

  1. Postpartum vertebral artery dissection.

    Science.gov (United States)

    Finley, Amanda; Rogers, Brenton; Richards, Theodore; Vogel, Heather

    2015-01-01

    We report a case of a right vertebral artery dissection in a 35-year-old woman, 3?weeks post partum, with manifestations of vertebrobasilar disease. She was 3?weeks out from the uneventful delivery of her fourth child, with presentation of acute neurological symptoms, predominantly intractable vertigo. Vertigo can have many non-specific generalised symptoms and clinical findings. Postpartum women have a lengthy list of possible aetiologies of vertigo not limited to our initially suspected preeclampsia, dural venous thrombosis and vertebral dissection. PMID:26604230

  2. Imaging findings in congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Akhan, Okan [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)]. E-mail: akhano@tr.net; Karaosmanoglu, Ali Devrim [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey); Ergen, Bilge [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)

    2007-01-15

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue.

  3. Imaging findings in congenital hepatic fibrosis

    International Nuclear Information System (INIS)

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue

  4. Membrana laríngea congénita / Congenital laryngeal membrane

    Scientific Electronic Library Online (English)

    J., Martínez Blanco; E., García García; C., Suárez Castañón; M. J., Álvarez Zapico.

    2013-09-01

    Full Text Available La membrana laríngea congénita es una malformación infrecuente de las vías aéreas. La clínica que produce depende del grado de obstrucción que produzca en dichas vías. Debe tenerse en consideración al realizar el diagnóstico diferencial de la dificultad respiratoria del recién nacido. El tratamiento [...] dependerá asimismo del grado de obstrucción de la vía respiratoria. Se describe el caso de una lactante de dos semanas de vida que presenta afonía desde el nacimiento y dificultad respiratoria en el curso de infecciones de las vías aéreas superiores. Mediante laringoscopia directa, se realiza el diagnóstico de membrana laríngea congénita. El tratamiento realizado consiste en varias intervenciones de vaporización con láser de dióxido de carbono. Abstract in english Congenital laryngeal membrane is a rare malformation of the airways. The symptoms depend on the degree of obstruction that triggers in these pathways. It must be taken into consideration in the differential diagnosis of the newborn respiratory distress. The treatment depends on the degree of airway [...] obstruction. We report the case of an infant 2 weeks old with aphonia from birth and respiratory distress with upper airways infections. She is diagnosed of congenital laryngeal membrane by direct laryngoscopy. The treatment is performed with lasser.

  5. The Critically Ill Infant with Congenital Heart Disease.

    Science.gov (United States)

    Strobel, Ashley M; Lu, Le N

    2015-08-01

    This article presents an approach for identification of infants with congenital heart disorders. These disorders are difficult to diagnose because of the complexity and variety of cardiac malformations; additionally presentation can be complicated by age-dependent physiology. By compiling data from the history and the physical examination, the emergency physician can identify lesion category and initiate stabilization procedures. Critical congenital cardiac lesions can be classified as left-sided obstructive ductal dependent, right-sided obstructive ductal dependent, and shunting or mixing. The simplified approach categorizes infants with these lesions respectively as "pink," "blue," or "gray." The emergency provider can provide life-saving stabilization until specialized care can be obtained. PMID:26226862

  6. Four Polygamous Families with Congenital Birth Defects from Fallujah, Iraq

    Directory of Open Access Journals (Sweden)

    Paola Manduca

    2010-12-01

    Full Text Available Since 2003, congenital malformations have increased to account for 15% of all births in Fallujah, Iraq. Congenital heart defects have the highest incidence, followed by neural tube defects. Similar birth defects were reported in other populations exposed to war contaminants. While the causes of increased prevalence of birth defects are under investigation, we opted to release this communication to contribute to exploration of these issues. By using a questionnaire, containing residential history and activities that may have led to exposure to war contaminants, retrospective reproductive history of four polygamous Fallujah families were documented. Our findings point to sporadic, untargeted events, with different phenotypes in each family and increased recurrence. The prevalence of familial birth defects after 2003 highlights the relevance of epigenetic mechanisms and offers insights to focus research, with the aim of reducing further damage to people’s health.

  7. A rare case of congenital heart disease with ambiguous genitalia

    Directory of Open Access Journals (Sweden)

    Lingaiah Kusuma

    2010-01-01

    Full Text Available Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possible causes for this association could be pseudohermaphroditism, which in turn, may be due to congenital adrenal hyperplasia. The government of any country should consider providing for its people a free prenatal diagnosis for susceptible disorders.

  8. Multiple congenital familial smooth muscle hamartoma in two siblings.

    Science.gov (United States)

    García-Gavín, Juan; Pérez-Pérez, Lidia; Allegue, Francisco; Pérez-Pedrosa, Alberto; Ortíz-Rey, Jose Antonio; Zulaica, Ander

    2012-05-01

    Smooth muscle hamartoma (SMH) is a cutaneous malformation mainly composed of a disorganized proliferation of normal muscle fibers that arise from arrector pili. It usually presents as a single congenital lesion that frequently involves the back and the lower limbs. Unusual clinical presentations, such as atypical localizations, multiple disseminated lesions, and generalized forms have been rarely described. In 2001, Gualandri et al. reported the presence of multiple SMH in three members of the same family, namely two brothers and their mother. This is, as far as we know, the only familial case reported in the English literature. We herein describe a similar case affecting two siblings who presented with identical congenital lesions in the same location. PMID:22630577

  9. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  10. Predicting vertebral bone strength by vertebral static histomorphometry

    DEFF Research Database (Denmark)

    Thomsen, Jesper Skovhus; Ebbesen, Ebbe Nils; Mosekilde, Lis

    2002-01-01

    The study investigates the relationship between static histomorphometry and bone strength of human lumbar vertebral bone. The ability of vertebral histomorphometry to predict vertebral bone strength was compared with that of vertebral densitometry, and also with histomorphometry and bone strength of iliac crest bone biopsies. The material comprised matched sets of second lumbar vertebrae, third lumbar vertebrae, and two iliac crest bone biopsies from each of 21 women (19--96 years) and 24 men (2...

  11. Stereological and Morphometric Analysis of MRI Chiari Malformation Type-1

    Science.gov (United States)

    Alkoç, Ozan Alper; Songur, Ahmet; Eser, Olcay; Toktas, Muhsin; Esi, Ertap; Haktanir, Alpay

    2015-01-01

    Objective In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results Tonsillar herniation length was measured 9.09±3.39 mm below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition.

  12. Radiological evaluation congenital gastrointestinal tract anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Young Hee; Kim, Ock [Hanil Hospital, Seoul (Korea, Republic of); Jang, Jung Wha [Seoul Nationl Hospital, Seoul (Korea, Republic of)

    1983-06-15

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric stenosis, delayed gastric emptying, string or double tract sign were the most common findings and catapiller sign, tit sign, shoulder sign or open umbrella sign were noted. e. Barium enema: In congenital megacolon, transitional zone and irregular bizzar contraction, 'chopperwave' were noted. Radiography made 24 hours after barium enema showed retained barium in the colon. f. Selective retrograde fistulogram, distal loopgram and voiding cystogram: In anorectal anomalies, 3 cases showed rectourethral fistula and 2 cases showed rectovaginal fistula and 1 case showed rectovesical fistula. And membranous imperforate anus is in 1 case.

  13. Radiological evaluation congenital gastrointestinal tract anomalies

    International Nuclear Information System (INIS)

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric stenosis, delayed gastric emptying, string or double tract sign were the most common findings and catapiller sign, tit sign, shoulder sign or open umbrella sign were noted. e. Barium enema: In congenital megacolon, transitional zone and irregular bizzar contraction, 'chopperwave' were noted. Radiography made 24 hours after barium enema showed retained barium in the colon. f. Selective retrograde fistulogram, distal loopgram and voiding cystogram: In anorectal anomalies, 3 cases showed rectourethral fistula and 2 cases showed rectovaginal fistula and 1 case showed rectovesical fistula. And membranous imperforate anus is in 1 case

  14. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  15. Congenital parvovirus infection.

    OpenAIRE

    Wright, I.M.; Williams, M.L.; Cohen, B J

    1991-01-01

    A case of congenital parvovirus (B19) viraemia with associated thrombocytopenic purpura and platelet antigen incompatibility in an infant is reported. Results of laboratory investigations indicated that the baby was infected in utero.

  16. Quistes pulmonares congénitos / Congenital lung cysts

    Scientific Electronic Library Online (English)

    Nuvia, Suárez García; Sergio Germán, Piloña Ruiz; Omar León, Vara Cuesta; Rita Inés, Milians Casanova; Mirka, Rosa Torres.

    2014-06-01

    Full Text Available Introducción: las malformaciones pulmonares congénitas constituyen una alteración en el desarrollo embriológico y fetal de las distintas estructuras pulmonares y una rara expresión de estas son los quistes pulmonares congénitos. Caso clínico: se presenta un recién nacido a término, de buen peso, asi [...] ntomático y estable hasta el tercer día de vida al debutar con un estado de shock séptico secundario, de bronconeumonía complicada con derrame pleural derecho. En los estudios evolutivos hacia el cuarto de día de vida se le diagnostica como hallazgo radiológico la presencia de quistes pulmonares que evolucionan de forma asintomática. Después de una valoración multidisciplinaria es egresado con un seguimiento por su condición de alto riesgo. Actualmente saludable y con buen desarrollo psicomotor. Conclusiones: la importancia del tema que se presenta es que se describe una presentación rara de quistes pulmonares congénitos en un recién nacido que desarrolló un estadio avanzado de sepsis. Abstract in english Introduction: congenital lung malformations constitute an alteration in the embryonic and fetal development of the different lung structures and a rare expression of these congenital lung cysts. Case report: termed newborn, good weight, evolving asymptomatic and stable until the third day of life to [...] debut a state of septic shock secondary to complicated bronchopneumonia with right pleural effusion. In evolutionary studies by the fourth day of life it is diagnosed, as radiological finding, the presence of lung cysts evolving asymptomatically. After a multidisciplinary assessment there is a graduate tracking of their status, with high risk. Currently healthy and good psychomotor development. Conclusions: the importance of the issue presented is a rare presentation of congenital lung cysts in a newborn who developed an advanced stage of sepsis described.

  17. Vertebral-Basilar Insufficiency

    OpenAIRE

    Cape, Ronald D. T.; Hogan, David B.

    1983-01-01

    Vertebral-basilar ischemia can result in giddiness, transient ischemic attacks, and drop attacks. Management involves controlling blood pressure, getting the patient to stop smoking, controlling diabetes and/or hyperlipidemia, and instituting antiplatelet therapy. Several facets of this problem remain unexplained.

  18. Vertebral artery aneurysms.

    Directory of Open Access Journals (Sweden)

    Ravi Kumar C

    2000-04-01

    Full Text Available Vertebral artery (VA aneurysms are rare. We present our experience with three cases of VA aneurysms. Two aneurysms were located close to the origin of basilar artery while the third patient had a giant posterior inferior cerebellar artery aneurysm. These aneurysms were operated by the far lateral inferior suboccipital approach with good results.

  19. Use of Inhaled and Oral Corticosteroids in Pregnancy and the Risk of Malformations or Miscarriage

    DEFF Research Database (Denmark)

    BjØrn, Anne-Mette Bay; Ehrenstein, Vera

    2015-01-01

    Corticosteroids are potent anti-inflammatory and immunosuppressive drugs, which sometimes must be given to pregnant women. Corticosteroids have been suspected to be teratogenic for many years; however, there is conflicting evidence regarding the association. Based on a literature review of three databases, this MiniReview provides an overview of inhaled and oral corticosteroid use in pregnancy with specific emphasis on the association between use of corticosteroids during pregnancy and risk of miscarriage and congenital malformations in offspring. Use of corticosteroids among pregnant women ranged from 0.2% to 10% and increased nearly two-fold in recent years. Taken together, the evidence suggests that use of corticosteroids in early pregnancy is not associated with an increased risk of congenital malformations overall or oral clefts in offspring; at the same time, published estimates are inconsistent. Use of inhaled corticosteroids was associated with a slightly increased the risk of miscarriage, whereas useof oral corticosteroids was not; however, confounding by indication could not be ruled out. This article is protected by copyright. All rights reserved.

  20. Nutritional Approach of Pediatric Patients Diagnosed with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Tog?nel Rodica

    2013-04-01

    Full Text Available Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.

  1. Developing and Evaluating Virtual Cardiotomy for Preoperative Planning in Congenital Heart Disease

    DEFF Research Database (Denmark)

    Sørensen, Thomas Sangild; Beerbaum, Philipp; Mosegaard, Jesper; Greil, Gerald Franz

    2009-01-01

    Careful preoperative planning is of outmost importance -- in particular when considering complex corrective surgery on congenitally malformed hearts. As an aid to such decisionsmaking we describe a system for virtual reconstruction of patient-specific morphology from 3D-capable imaging modalities such as MRI and CT. We introduce and illustrate the concept of virtual cardiotomy as a new tool to preoperatively evaluate the feasibility of different surgical strategies by investigating the anatomica...

  2. MERMAID BABY WITH MULTIPLE CONGENITAL ANOMALIES IN MONOCHORIONIC TWIN GESTATION IN DIABETIC MOTHER

    Directory of Open Access Journals (Sweden)

    Meenal

    2013-01-01

    Full Text Available ABSTRACT: Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 1,100,000 births. We are presenting a report of a ra re case of Mermaid baby with multiple congenital anomalies in monochorionic twin gestatio n in a diabetic mother.

  3. Bilateral Wyburn-Mason Syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneuos disorder

    DEFF Research Database (Denmark)

    Cortnum, Søren Ole Stigaard; Sørensen, Preben; Andresen, J

    2008-01-01

    A 30 year old young male was admitted to our department after experiencing clincal symptoms of a subarachnoid haemorrhage. Imaging studies revealed large cerebral AVMs. Fundus examination of the left eye demonstrated a retinal racemose AVM almost completely covering the posterior pole of the eye. Wyburn-Mason syndrome is a very rare congenital neurocutaneuos disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal ar...

  4. Heparan sulfate deficiency disrupts developmental angiogenesis and causes congenital diaphragmatic hernia

    OpenAIRE

    Zhang, Bing; Xiao, Wenyuan; Qiu, Hong; Zhang, Fuming; Moniz, Heather A.; Jaworski, Alexander; Condac, Eduard; Gutierrez-Sanchez, Gerardo; Heiss, Christian; Robin D. Clugston; Azadi, Parastoo; Greer, John J; Bergmann, Carl; Moremen, Kelley W; Li, Dean

    2013-01-01

    Congenital diaphragmatic hernia (CDH) is a common birth malformation with a heterogeneous etiology. In this study, we report that ablation of the heparan sulfate biosynthetic enzyme NDST1 in murine endothelium (Ndst1ECKO mice) disrupted vascular development in the diaphragm, which led to hypoxia as well as subsequent diaphragm hypoplasia and CDH. Intriguingly, the phenotypes displayed in Ndst1ECKO mice resembled the developmental defects observed in slit homolog 3 (Slit3) knockout mice. Furth...

  5. Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency

    OpenAIRE

    2010-01-01

    Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17?-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency. Objective: The aim o...

  6. Method radiodiagnosis of vertebral diseases

    International Nuclear Information System (INIS)

    The method of radiodiagnosis by roentgenography in peripheral projection in the position of bending, unbending and measuring angle values formed by closing vertebral plates is suggested to determine functional capabilities of intervertebral disks. The method suggested allows to increase the accuracy of diagnosis of vertebral pathology, as well as to receive information about functional capability of the vertebral column

  7. Congenital hyperthyroidism: autopsy report Hipertireoidismo Congenital

    OpenAIRE

    Marcus Aurelho Lima; Lília Beatriz Oliveira; Neiva Paim; Maria de Fátima Borges

    1999-01-01

    We report the autopsy of a stillborn fetus with congenital hyperthyroidism born to a mother with untreated Graves' disease, whose cause of death was congestive heart failure. The major findings concerned the skull, thyroid, heart, and placenta. The cranial sutures were closed, with overlapping skull bones. The thyroid was increased in volume and had intense blood congestion. Histological examination showed hyperactive follicles. The heart was enlarged and softened, with dilated cavities and h...

  8. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    Science.gov (United States)

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

    2010-02-01

    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented. PMID:19572237

  9. Assisted reproductive techniques and the risk of anorectal malformations: a German case-control study

    Directory of Open Access Journals (Sweden)

    Zwink Nadine

    2012-09-01

    Full Text Available Abstract Background The use of assisted reproductive techniques (ART for treatment of infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk of congenital malformations. Therefore, we assessed the risk of anorectal malformations (ARM after in-vitro fertilization (IVF and intracytoplasmic sperm injection (ICSI. Methods Data of the German Network for Congenital Uro-REctal malformations (CURE-Net were compared to nationwide data of the German IVF register and the Federal Statistical Office (DESTATIS. Odds ratios (95% confidence intervals were determined to quantify associations using multivariable logistic regression accounting for potential confounding or interaction by plurality of births. Results In total, 295 ARM patients born between 1997 and 2011 in Germany, who were recruited through participating pediatric surgeries from all over Germany and the German self-help organisation SoMA, were included. Controls were all German live-births (n?=?10,069,986 born between 1997 and 2010. Overall, 30 cases (10% and 129,982 controls (1% were born after IVF or ICSI, which translates to an odds ratio (95% confidence interval of 8.7 (5.9–12.6 between ART and ARM in bivariate analyses. Separate analyses showed a significantly increased risk for ARM after IVF (OR, 10.9; 95% CI, 6.2–19.0; P? Conclusions There is a strongly increased risk for ARM among children born after ART. Elevations of risk were seen after both IVF and ICSI. Further, separate analyses of patients with isolated ARM, ARM with associated anomalies and those with a VATER/VACTERL association showed increased risks in each group. An increased risk of ARM was also seen among both singletons and multiple births.

  10. Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

    Science.gov (United States)

    Siminas, Sotirios; Baillie, Colin Tennant; Turnock, Richard

    2015-06-01

    Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with "low" anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects. PMID:26171318

  11. Case report 530: Paget disease engrafted on congenitally fused cervical vertebrae (C3-C4)

    International Nuclear Information System (INIS)

    A case of Paget disease in congenitally fused C3 and 4 vertebral bodies is reported. Fusion of C3 and 4 and Paget disease as isolated findings in the cervical spine are both rare. The combination of the two is even rarer. The diagnosis was confirmed by a core biopsy of the lamina. (orig.)

  12. Vertebral Fracture Prediction

    DEFF Research Database (Denmark)

    Vertebral Fracture Prediction A method of processing data derived from an image of at least part of a spine is provided for estimating the risk of a future fracture in vertebraeof the spine. Position data relating to at least four neighbouring vertebrae of the spine is processed. The curvature of the spine at at least two of the neighbouring vertebrae is calculated. The different curvature values are computed to obtain a value representative of the degree of irregularity in curvature of the spin...

  13. Phylogenomics of vertebrate serpins

    OpenAIRE

    Kumar, Abhishek

    2010-01-01

    The serpins constitute a superfamily of proteins that fold into a conserved tertiary structure and employ a sophisticated, irreversible suicide-mechanism of inhibition. More than 6000 serpins have been identified, occurring in all three forms of the life - the eukaryotes, the prokaryotes and the archea. Vertebrate serpins can be conveniently classified into six groups (V1 - V6), based on three independent biological features - gene organization, diagnostic amino acid sites and rare indels. In...

  14. Non-vertebrate melatonin.

    Science.gov (United States)

    Hardeland, Rüdiger; Poeggeler, Burkhard

    2003-05-01

    Melatonin has been detected in bacteria, eukaryotic unicells, macroalgae, plants, fungi and various taxa of invertebrates. Although precise determinations are missing in many of these organisms and the roles of melatonin are still unknown, investigations in some species allow more detailed conclusions. Non-vertebrate melatonin is not necessarily circadian, and if so, not always peaking at night, although nocturnal maxima are frequently found. In the cases under study, the major biosynthetic pathway is identical with that of vertebrates. Mimicking of photoperiodic responses and concentration changes upon temperature decreases have been studied in more detail only in dinoflagellates. In plants, an involvement in photoperiodism seems conceivable but requires further support. No stimulation of flowering has been demonstrated to date. A participation in antioxidative protection might be possible in many aerobic non-vertebrates, although evidence for a contribution at physiological levels is mostly missing. Protection from stress by oxidotoxins or/and extensions of lifespan have been shown in very different organisms, such as the dinoflagellate Lingulodinium, the ciliate Paramecium, the rotifer Philodina and Drosophila. Melatonin can be taken up from the food, findings with possible implications in ecophysiology as well as for human nutrition and, with regard to high levels in medicinal plants, also in pharmacology. PMID:12662344

  15. Management strategy for facial arteriovenous malformations

    Directory of Open Access Journals (Sweden)

    Bhandari P

    2008-01-01

    Full Text Available Arteriovenous malformations (AVMs are uncommon errors of vascular morphogenesis; haemodynamically, they are high-flow lesions. Approximately 50% of AVMs are located in the craniofacial region. Subtotal excision or proximal ligation of the feeding vessel frequently results in rapid progression of the AVMs. Hence, the correct treatment consists of highly selective embolisation (super-selective followed by complete resection 24-48 hours later. We treated 20 patients with facial arteriovenous malformation by using this method. Most of the lesions (80% were located within the cheek and lip. There were no procedure related complications and cosmetic results were excellent.

  16. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  17. Facts about Congenital Heart Defects

    Science.gov (United States)

    ... to Other Websites Information For... Media Policy Makers Facts about Congenital Heart Defects Language: English Español (Spanish) ... are living longer and healthier lives. Learn more facts about CHDs below. What are Congenital Heart Defects ( ...

  18. Genetics Home Reference: Congenital hyperinsulinism

    Science.gov (United States)

    ... congenital hyperinsulinism? hyperinsulinemia hypoglycemia of infancy infancy hyperinsulinemia hypoglycemia neonatal hyperinsulinism persistent hyperinsulinemia hypoglycemia of infancy persistent hyperinsulinemic ...

  19. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate the complexity in identifying congenital deafblindness. It is concluded that determining deafblindness should not be limited to medical procedures (vision and hearing tests) alone, but may also involve a lengthy process to assess the level of sense functioning the individual possesses.

  20. Pattern of Congenital Anomalies in Newborn :A Hospital Based Prospective Study

    Directory of Open Access Journals (Sweden)

    Arjun Singh, Ravinder K Gupta

    2009-01-01

    Full Text Available This hospital based prospective descriptive study highlights the point prevlance of congenital anomalies inone year. The number of congenital anomalies were more in males (M: F = 1.6:1.4, in neonates of young(= 20 years and elderly mothers (= 35 years. The pattern of congenital anomalies included musculoskeletal(30.6%, CNS (20.5%, GIT (18.5%, skin (7.6%, genitourinary (4.7%, CVS (4% etc. In musculoskeletalgroup, telipes was most common malformation followed by spinabifida and polydactyly. In CNS, groupmeningomyeleceole was the most common malformation followed by anencephaly and hydrocephalus.Frequency of congenital anomalies were more common in muslims as compared to hindus (1.77% vs.1.4%, in cesarean born babies as compared to vaginally delivered (1.96% vs. 1.48%, in LBW babies(4.95% and still born as compared to live born babies (4.46% vs. 1.39%. Present study stress upon theimportance to carrying out a thorough clinical examination of neonate at birth

  1. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-06-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenital muscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in the Western world mostly seen with de novo dominant mutations in the collagen VI genes. Milder form of the condition is the Bethlem myopathy. There may be overlap forms in the clinic resembling the Ehler-Danlos syndrome. There has been some radical efforts for cure especially through the apoptosis cascades.

  2. Ullrich Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Goknur Haliloglu

    2011-09-01

    Full Text Available ObjectiveUllrich congenital muscular dystrophy is a rather severe type of congenitalmuscular dystrophy with early onset features related to motor development.In general it is inherited in autosomal recessive principles, however in theWestern world mostly seen with de novo dominant mutations in the collagenVI genes. Milder form of the condition is the Bethlem myopathy. There may beoverlap forms in the clinic resembling the Ehler-Danlos syndrome. There hasbeen some radical efforts for cure especially through the apoptosis cascades.Key words: Ullrich congenital muscular dystrophy, collgen VI genes, Bethlemmyopathy, autophagy.

  3. Defectos congénitos mayores en nacidos vivos / Major congenital defects in live births

    Scientific Electronic Library Online (English)

    Juana María, Alum Bárcenas; Ener de Jesús, Fernández Brizuela; Marlenis, Moreno Madrigal; Elda, Ledesma León.

    2015-04-01

    Full Text Available Fundamento: los defectos congénitos mayores tienen un compromiso funcional importante para la vida del individuo, tienen una frecuencia del 2 al 3 % de los recién nacidos. Los avances de Cuba en el programa de reducción de la mortalidad infantil se deben entre otras causas al diseño de estrategias q [...] ue han contribuido a la disminución de la morbimortalidad por malformaciones congénitas. Objetivo: caracterizar el comportamiento de los defectos congénitos mayores en el municipio Carlos Manuel de Céspedes desde el 2002 hasta el 2013. Métodos: se realizó un estudio observacional descriptivo transversal de serie de casos. El universo estuvo constituido por los 67 niños nacidos vivos con diagnóstico de defectos congénitos mayores. Los datos se recogieron en una base de datos para lo que se utilizó el modelo del registro cubano de malformaciones congénitas, además se realizó la revisión de las historias clínicas individuales y familiares en los consultorios del médico de la familia. Resultados: predominaron los defectos congénitos mayores en los años 2006, 2009 y 2011 y la mayor frecuencia se produjo en los meses de febrero, agosto, septiembre y octubre. Los más frecuentemente observados correspondieron a los sistemas cardiovascular, renal y osteomioarticular. Las malformaciones y los síndromes fueron los defectos más observados desde el punto de vista etiopatogénico. La mayoría de los nacimientos no presentaron factores de riesgo. Conclusiones: en el municipio Céspedes los defectos congénitos mayores son frecuentes y contribuyen a la mortalidad infantil. Abstract in english Background: major congenital defects cause important functional problems for the life of the patient; these defects have a frequency of 2 to 3 % in newborns. Advantages in the infant mortality reduction program in Cuba are due, among other reasons, to the design of strategies that have contributed t [...] o the decrease of morbidity and mortality caused by congenital malformations. Objective: to characterize the behavior of major congenital defects in Carlos Manuel de Céspedes municipality, from 2002 to 2013. Methods: a descriptive, cross sectional, case-series study was conducted. The universe was composed of the 67 live births with diagnosis of major congenital defects. The data were collected in a data base. The Cuban register model of congenital malformations was used for this; besides, a review of medical histories of patients and of family histories was also made in family physician offices. Results: major congenital defects predominated in 2006, 2009 and 2011 and were more frequent in February, September and October. The most frequent congenital defects were related to the cardiovascular, renal and osteomioarticular systems. Malformations and syndromes were the most observed from the etiopathogenical point of view. Most of the births did not presented risks. Conclusions: in Céspedes municipality major congenital defects are frequent and contribute to cause infant mortality.

  4. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to which associated anomalies are most common in cases with DS with associated anomalies. In this study we observed a higher percentage of associated anomalies than in the other reported series as well as an increase in the incidence of duodenal atresia, urinary system anomalies, musculoskeletal system anomalies, and respiratory system anomalies, and a decrease in the incidence of anal atresia, annular pancreas, and limb reduction defects. In conclusion, we observed a high prevalence of total congenital anomalies and specific patterns of malformations associated with Down syndrome which emphasizes the need to evaluate carefully all cases with Down syndrome for possible associated major congenital anomalies. PMID:26578241

  5. Lymphatic malformations: a proposed management algorithm.

    LENUS (Irish Health Repository)

    Oosthuizen, J C

    2012-02-01

    OBJECTIVE: The aim of this study was to develop a management algorithm for cervicofacial lymphatic malformations, based on the authors\\' experience in managing these lesions as well as current literature on the subject. STUDY DESIGN AND METHODS: A retrospective medical record review of all the patients treated for lymphatic malformations at our institution during a 10-year period (1998-2008) was performed. DATA COLLECTED: age at diagnosis, location and type of lesion, radiologic investigation performed, presenting symptoms, treatment modality used, complications and results achieved. RESULTS: 14 patients were identified. Eight (57%) male and six (43%) female. There was an equal distribution between the left and right sides. The majority (71%) of cases were diagnosed within the first year of life. The majority of lesions were located in the suprahyoid region. The predominant reason for referral was an asymptomatic mass in 7 cases (50%) followed by airway compromise (36%) and dysphagia (14%). Management options employed included: observation, OK-432 injection, surgical excision and laser therapy. In 5 cases (36%) a combination of these were used. CONCLUSION: Historically surgical excision has been the management option of choice for lymphatic malformations. However due to the morbidity and high complication rate associated this is increasingly being questioned. Recent advances in sclerotherapy e.g. OK-432 injection have also shown significant promise. Based on experience in managing these lesions as well as current literature the authors of this paper have developed an algorithm for the management of cervicofacial lymphatic malformations.

  6. Pulmonary arteriovenous malformations after cavopulmonary anastomosis

    Directory of Open Access Journals (Sweden)

    Singhi Anil

    2009-01-01

    Full Text Available Pulmonary arteriovenous malformation (PAVM is common after cavopulmonary anastomosis. PAVMs appear on chest X-ray film as diffuse opacity in one or both lungs. Angiographically, it appears as spidery diffuse vascularity with near simultaneous opacification of pulmonary arteries and veins.

  7. Fetal MRI clues to diagnose cloacal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  8. MR imaging appearance of laryngeal atresia (congenital high airway obstruction syndrome): unique course in a fetus

    Energy Technology Data Exchange (ETDEWEB)

    Kuwashima, Shigeko; Kitajima, Kazuhiro; Kaji, Yasushi [Dokkyo Medical University, Department of Radiology, Mibu, Shimotsuga-gun, Tochigi (Japan); Watanabe, Hiroshi [Dokkyo Medical University, Department of Obstetrics and Gynecology, Mibu (Japan); Watabe, Yoshiyuki; Suzumura, Hiroshi [Dokkyo Medical University, Department of Pediatrics, Mibu (Japan)

    2008-03-15

    Congenital high airway obstruction syndrome (CHAOS) is a rare life-threatening syndrome. Most cases are diagnosed prenatally by US. We report a fetus with this syndrome that showed a unique course revealed on MRI. Ultrasonography at 22 weeks demonstrated that the fetus had ascites and bilaterally enlarged hyperechoic lungs. Congenital infection, congenital cystic adenomatoid malformation or CHAOS was suspected. Subsequent MRI performed at 24 weeks demonstrated bilaterally enlarged high-signal lungs, dilated bronchi, massive ascites, subcutaneous oedema and polyhydramnios. MRI confirmed the diagnosis of CHAOS. A second MRI at 35 weeks showed that the bilateral lung enlargement, ascites, oedema and polyhydramnios had resolved, but that the appearance of the airway was unchanged. The infant was delivered by caesarean section at 38 weeks of gestation and immediate tracheostomy was performed. This spontaneous regression was explained by a tracheo-oesophageal fistula that may have decreased the intrathoracic pressure. (orig.)

  9. Magnetic resonance imaging of congenital heart disease at 0.3 T

    Energy Technology Data Exchange (ETDEWEB)

    Malmgren, N.

    1995-11-01

    The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs.

  10. Ultrasonographic views for the screening of congenital heart defects in the first level of care

    International Nuclear Information System (INIS)

    Congenital heart diseases are the main cause of infant mortality for congenital malformations in our country and they are the defects that more usually escape diagnosis in ultrasonographic screening, especially if we consider that associated risk factors call for a fetal echocardiogram are not identified in most pregnant women with fetuses affected with a heart disease. With this paper, we intend to bring within reach of both the specialists dedicated to this activity in primary care and the Masters in Genetic Counseling a review article about the principal aspects to be evaluated in each of the three echocardiography views that are used in Cuba as part of screening these defects, as well as the main signs of suspicion of congenital heart diseases that give reason for having a pregnant woman referred to the immediately higher level of care

  11. Magnetic resonance imaging of congenital heart disease at 0.3 T

    International Nuclear Information System (INIS)

    The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs

  12. Nevus melanocítico gigante congénito / Giant melanocyte congenital nevus

    Scientific Electronic Library Online (English)

    Yanett, Sarmiento Portal; Omar León, Vara Cuesta; María Elena, Portal Miranda; Noemi Barbara, Cabrera Domínguez; Alexis, Pérez Chirino.

    2014-12-01

    Full Text Available Introducción: el nevo melanocítico congénito gigante es infrecuente, su incidencia es de 1 por cada 20.000 a 50.000 nacidos vivos. Caso clínico: se presentó el caso de un neonato que desde el momento de su nacimiento, se observó al examen físico de la piel, la presencia de lesiones pigmentadas de co [...] lor negro que abarcaban la mayor parte del tronco, incluyendo la región sacra, así como porciones de piel de iguales características con hipertricosis y lesiones más pequeñas satelitales diseminadas por todo el cuerpo y cuero cabelludo. Se diagnosticó clínicamente de nevus melanocítico congénito gigante con múltiples nevos satelitales, sin otras malformaciones asociadas ni daño neurológico. Se egresó con un seguimiento por dermatología, genética y pediatría. Conclusiones: ante un nevo melanocítico congénito gigante ubicado en el eje axial posterior o la presencia de satelitosis, se debe pesquisar la presencia de melanosis neurocutánea o malformaciones asociadas. Se deben realizar los controles periódicos por el riesgo de desarrollo de melanoma. Abstract in english Introduction: giant melanocyte congenital nevus in rare, its incidence is 1 to every 20.000 or to 50.000 live births. Clinical case: a neonate is examined at birth, physical assessment of skin showed the presence of black pigmented lesions covering a great part of the trunk and sacral region, along [...] with portions of skin having equal characteristics of hypertrichosis and smaller satellite lesions with all-body dissemination and scalp. Clinical diagnosis was giant melanocyte congenital nevus with multiple satellite nevi, without other associated malformations or neurological damage. The patient was discharged having dermatology, genetics and pediatrics follow-up. Conclusions: in the existence of giant melanocyte congenital nevus located in the posterior axial axis or the presence of satellite lesions, neurocutaneous melanosis or associated malformations must be investigated. Periodical controls should be performed because of the risk for melanoma development.

  13. Kidney transplantation in a patient with absent right common iliac artery and congenital renal abnormalities

    Science.gov (United States)

    Tay, Clifton Ming; Siew, Edwin Poh Yiew; Ng, Tze-Kiat; Vathsala, Anantharanam; Tiong, Ho Yee

    2015-01-01

    Introduction Congenital atresia of the common and external iliac arteries is a rare vascular anomaly that may be associated with congenital renal or genitourinary malformations. In ESRD patients, its presence may pose potential problems during renal transplantation. Case presentation We report a rare case of kidney transplantation in a patient with VACTERL syndrome who was found to have absent right common and external iliac arteries during pre-operative imaging. Vascular supply to the right lower limb is derived from an anomalous branch from the left internal iliac artery which takes on a convoluted course across the pelvis. Kidney transplantation was performed successfully with implantation performed on the left side. Discussion Isolated cases of congenital iliac artery atresia have been described in association with urological abnormalities but no clear association has yet been established. However, we feel that it may be useful to perform routine angiographic evaluation for ESRD patients with congenital genitourinary abnormalities being planned for kidney transplantation. While most cases of congenital iliac artery anomalies are symptomatic with claudication, some remain asymptomatic with normal physical examination findings. There is some evidence in literature suggesting the usefulness of routine pre-operative CT in a selective group of patients. Conclusion Kidney transplantation in such cases is safe and we recommend routine pre-operative imaging of patients known to have congenital genitourniary abnormalities. The kidney should be implanted heterotopically to the contralateral side of the vascular anomaly and care must be taken to preserve vascular supply to the lower limbs. PMID:25839434

  14. Fluctuating nature of an orbital venous-lymphatic anomaly in association with intracranial vascular malformations: a classical presentation.

    Science.gov (United States)

    Kanagalingam, Sivashakthi; Wyse, Emily; Merbs, Shannath L; Pearl, Monica Smith

    2015-01-01

    Venous-lymphatic anomalies (VLA) are rare and benign congenital lesions of the lymphatic system, composed of endothelial-lined lymphatic cysts. They are most frequently located in the region of the head and neck, and represent 4% of all orbital masses. In those patients with extensive orbital VLAs, a strong association with intracranial vascular anomalies has been reported. Factors known to suddenly increase the size of these lesions include upper respiratory tract infections or intralesional haemorrhage; however, complete spontaneous regression is rare. We report on the classic presentation of a patient with a fluctuating right orbital VLA in association with an intracranial cavernous malformation and intracranial developmental venous anomaly. PMID:26438679

  15. [Diagnosing vertebral fractures: missed opportunities].

    Science.gov (United States)

    Borges, João Lindolfo Cunha; Maia, Julianne Lira; Silva, Renata Faria; Lewiecki, Edward Michael

    2015-01-01

    Vertebral fractures are the single most common type of osteoporotic fracture. Postmenopausal women are at increased risk for osteoporotic vertebral fractures compared with women of childbearing age. Vertebral fractures are associated with an increase in morbidity, mortality, and high risk of a subsequent vertebral fracture, regardless of bone mineral density. Despite the common occurrence and serious consequences of vertebral fractures, they are often unrecognized or misdiagnosed by radiologists. Moreover, vertebral fractures may be described by variable terminology that can confuse rather than enlighten referring physicians. We conducted a survey of spine X-ray reports from a group of postmenopausal women screened for participation in a study of osteoporosis at Centro de Pesquisa Clínica do Brasil. A descriptive analysis evaluated the variability of reports in 7 patients. Four independent general radiologists issued reports assessing vertebral fractures through a blinded analysis. The objective of this study was to evaluate for consistency in these reports. The analysis found marked variability in the diagnosis of vertebral fractures and the terminology used to describe them. In community medical practices, such variability could lead to differences in the management of patients with osteoporosis, with the potential for undertreatment or overtreatment depending on clinical circumstances. Accurate and unambiguous reporting of vertebral fractures is likely to be associated with improved clinical outcomes. PMID:25772659

  16. Congenital aggressive lipomatosis

    International Nuclear Information System (INIS)

    Three cases of congenital lipomatosis involving the thoracic region posteriorly are presented delineating the natural history of the disease and depicting underlying bone and soft tissue changes. The rib widening and pleural thickening appear to be related to increased intercostal vascularity feeding the overlying tumor, as delineated by angiography. This entity is not described in the radiologic literature. (orig.)

  17. Congenital Absence of Tibia

    Directory of Open Access Journals (Sweden)

    Sudesh Sharma, Saleem Mir, Vikrant Sharma, Irshad Dar, Rafee

    2002-10-01

    Full Text Available Congenital absence of tibia is a rare anomaly. We repol1 a case who presented at the age of 3 years withabsence of tibia right side with associated anomolies and was managed by reconstruction of the kneeand ankle joints b transfer of fibula

  18. Congenital complete atrioventricular block.

    OpenAIRE

    Kertesz, N J; Fenrich, A L; Friedman, R A

    1997-01-01

    Congenital complete atrioventricular block is found in 1 of 22,000 live births. Over time, it has become apparent that these patients represent not a single distinct disease process, but several processes with the common manifestation of atrioventricular block. The evaluation of these patients to determine their risk of sudden death and need for pacing is not well defined.

  19. Ambient air pollution and congenital heart defects in Lanzhou, China

    Science.gov (United States)

    Jin, Lan; Qiu, Jie; Zhang, Yaqun; Qiu, Weitao; He, Xiaochun; Wang, Yixuan; Sun, Qingmei; Li, Min; Zhao, Nan; Cui, Hongmei; Liu, Sufen; Tang, Zhongfeng; Chen, Ya; Yue, Li; Da, Zhenqiang; Xu, Xiaoying; Huang, Huang; Liu, Qing; Bell, Michelle L.; Zhang, Yawei

    2015-07-01

    Congenital heart defects are the most prevalent type of birth defects. The association of air pollution with congenital heart defects is not well understood. We investigated a cohort of 8969 singleton live births in Lanzhou, China during 2010-2012. Using inverse distance weighting, maternal exposures to particulate matter with diameters ?10 ?m (PM10), nitrogen dioxide (NO2), and sulfur dioxide (SO2) were estimated as a combination of monitoring station levels for time spent at home and in a work location. We used logistic regression to estimate the associations, adjusting for maternal age, education, income, BMI, disease, folic acid intake and therapeutic drug use, and smoking; season of conception, fuel used for cooking and temperature. We found significant positive associations of Patent Ductus Arteriosus (PDA) with PM10 during the 1st trimester, 2nd trimester and the entire pregnancy (OR 1st trimester = 3.96, 95% confidence interval (CI): 1.36, 11.53; OR 2nd trimester = 3.59, 95% CI: 1.57, 8.22; OR entire pregnancy = 2.09, 95% CI: 1.21, 3.62, per interquartile range (IQR) increment for PM10 (IQR = 71.2, 61.6, and 27.4 ?g m-3, respectively)), and associations with NO2 during 2nd trimester and the entire pregnancy (OR 2nd trimester = 1.92, 95% CI: 1.11, 3.34; OR entire pregnancy = 2.32, 95% Cl: 1.14, 4.71, per IQR increment for NO2 (IQR = 13.4 and 10.9 ?g m-3, respectively)). The associations for congenital malformations of the great arteries and pooled cases showed consistent patterns. We also found positive associations for congenital malformations of cardiac septa with PM10 exposures in the 2nd trimester and the entire pregnancy, and SO2 exposures in the entire pregnancy. Results indicate a health burden from maternal exposures to air pollution, with increased risk of congenital heart defects.

  20. Congenital cervical bronchogenic cyst: A case report

    Directory of Open Access Journals (Sweden)

    Kiralj Aleksandar

    2015-01-01

    Full Text Available Introduction. Bronchogenic cysts are rare congenital anomalies of the embryonic foregut. They are caused by abnormal budding of diverticulum of the embryonic foregut between the 26th and 40th day of gestation. Bronchogenic cysts can appear in the mediastinum and pulmonary parenchyma, or at ectopic sites (neck, subcutaneous tissue or abdomen. So far, 70 cases of cervical localization of bronchogenic cysts have been reported. Majority of bronchogenic cysts have been diagnosed in the pediatric population. Bronchogenic cysts of the cervical area are generally asymptomatic and symptoms may occur if cysts become large or in case of infection of the cyst. The diagnosis is made based on clinical findings, radiological examination, but histopathologic findings are essential for establishing the final diagnosis. Treatment of cervical bronchogenic cyst involves surgical excision. Case Outline. Authors present a case of a 6-year-old female patient sent by a pediatrician to a maxillofacial surgeon due to asymptomatic lump on the left side of the neck. The patient had frequent respiratory infections and respiratory obstructions. Magnetic resonance imaging (MRI of the neck was performed and a well-circumscribed cystic formation on the left side of the neck was observed, with paratracheal location. The complete excision of the cyst was made transcervically. Histopathological findings pointed to bronchogenic cyst. Conclusion. Cervical bronchogenic cysts are rare congenital malformations. Considering the location, clinical findings and the radiological features, these cysts resemble other cervical lesions. Surgical treatment is important because it is both therapeutic and diagnostic. Reliable diagnosis of bronchogenic cysts is based on histopathological examination.

  1. Novel variant syndrome associated with congenital hepatic fibrosis.

    Science.gov (United States)

    Bayraktar, Yusuf; Yonem, Ozlem; Varl?, Kubilay; Taylan, Hande; Shorbagi, Ali; Sokmensuer, Cenk

    2015-10-16

    Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalo-hepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome (BBS), the absence of some major criteria of BBS (polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University. PMID:26488028

  2. Congenital abnormalities and other birth outcomes in children born to women with ulcerative colitis in Denmark and Sweden

    DEFF Research Database (Denmark)

    Stephansson, Olof; Larsson, Heidi; Pedersen, Lars; Kieler, Helle; Granath, Fredrik; Ludvigsson, Jonas F; Falconer, Henrik; Ekbom, Anders; Sørensen, Henrik Toft; Nørgaard, Mette

    2011-01-01

    BACKGROUND:: Studies of women with ulcerative colitis (UC) during pregnancy have reported increased risks of preterm delivery, growth restriction, and congenital malformation. However, the results are inconsistent due to inadequate study design and limitations in sample size. METHODS:: We performed a population-based prevalence study on 2637 primiparous women with a UC hospital diagnosis prior to delivery and 868,942 primiparous women with no UC diagnosis in Denmark and Sweden, 1994-2006. Logist...

  3. Malformations and maturation disturbances after prenatal irradiation

    International Nuclear Information System (INIS)

    Risk estimates for prenatally exposed humans in view to malformations and maturation disturbances are incomplete despite numerous single cases being described. In this situation support from animal data has necessarily to be taken into consideration. Outlines of recent knowledge in the field of experimental radioembryology will be given. Possibilities and limits of the transfer of animal data to man will be discussed and correlated with new medical evaluations. The discussions are focussed on developmental defects of the central nervous system. (orig.)

  4. Radiological features of childhood giant cavernous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Ozgen, Burce; Senocak, Efsun; Oguz, Kader K. [Hacettepe University, Department of Radiology, Faculty of Medicine, Ankara (Turkey); Soylemezoglu, Figen [Hacettepe University, Department of Pathology, School of Medicine, Ankara (Turkey); Akalan, Nejat [Hacettepe University, Department of Neurosurgery, School of Medicine, Ankara (Turkey)

    2011-04-15

    Giant cavernous malformations (GCM) are very large, low-flow vascular malformations, which usually have atypical imaging features and are commonly misdiagnosed preoperatively as neoplasms or vascular malformations. These lesions have mostly been reported in children. As cavernomas show different features in children compared to adults, we evaluated the imaging features of pediatric GCMs in order to help in the preoperative diagnosis of these malformations. Brain MR studies of nine children (mean age of 4 years; 8 months-9 years) with biopsy-proven GCM were retrospectively evaluated. We defined GCMs as cavernomas of {>=}4 cm. Lesions were evaluated regarding their size, location, signal characteristics, general appearance (uni/multilocular) as well as regarding the presence of mass effect, edema, and fluid-fluid levels and were classified according to the Mottolese classification of pediatric cavernomas. Lesion locations were parietal (n = 5), frontal (n = 2), temporal, and intraventricular. Seven lesions were in the periventricular region (with five in the periatrial region). Six patients had T1 hyperintense multilobulated lesions with ''bubbles of blood'' appearance and three patients had heterogeneous lesions with reticular core. All lesions had mass effect, edema (marked in four cases), and peripheral hemosiderin rim. Fluid-fluid levels were also common (n = 7). Most of our lesions (six of nine) were classified as type IIIA, two as type IIIC, and one as type IA. In children, a GCM should be considered in case of very large hemorrhagic intra-axial mass with ''bubbles of blood'' multicystic appearance, surrounding hemosiderin ring, fluid-fluid levels, and accompanying edema-mass effect, especially in the periatrial location. (orig.)

  5. Arteriovenous malformation in uterine cervix during pregnancy

    OpenAIRE

    Kim, Sung-Mee; Jang, Won Kyu; Park, Joon-Cheol; Rhee, Jeong-Ho; Kim, Jong-In; Bae, Jin-Gon

    2014-01-01

    As the development of Doppler ultrasonography, many cases of uterine arteriovenous malformation (AVM) have beed diagnosed. But there is no case of cervical AVM in pregnant uterus. We present a 33-year-old pregnant woman who was diagnosed with AVM of the uterine cervix during the midtrimester. Color Doppler sonography and magnetic resonance image were used for diagnosis. We performed Cesarean section because of the risk of massive bleeding from the cervical AVM at 34 weeks' gestation. This is ...

  6. Foreign Body Aspiration Mimicking Congenital Lobar Emphysema

    Directory of Open Access Journals (Sweden)

    Sevgi Pekcan

    2012-08-01

    Full Text Available Introduction: Congenital lobar emphysema (CLE is a rare malformation of lung development which may be the cause of respiratory insufficiency of the suckling child. Patients often present within the first 6 months of life with recurrent respiratory distress. Foreign body aspiration (FBA is an important cause of morbidity and mortality in childhood. Foreign body aspiration should be thought in patients who have a history of recurrent lower respiratory infections and resistance to treatment. Case Report: We report a case of 16 month old girl with FBA mimicking CLE. She was suffering for persistan respiratory symptoms and radiological finding was maintaned as the difference between two sides of the lungs aeration for 11 months. Conclusion: In the acute and chronic period of FBA, the radiological finding can be different between two sides of the lungs aeration and this finding sometimes might suggest CLE in infancy. (Jo­ur­nal of Cur­rent Pe­di­at­rics 2012; 10: 70-3

  7. Congenital esophageal stenosis associated with esophageal atresia.

    Science.gov (United States)

    McCann, F; Michaud, L; Aspirot, A; Levesque, D; Gottrand, F; Faure, C

    2015-04-01

    Congenital esophageal stenosis (CES) is a rare clinical condition but is frequently associated with esophageal atresia (EA). The aim of this study is to report the diagnosis, management, and outcome of CES associated with EA. Medical charts of CES-EA patients from Lille University Hospital, Sainte-Justine Hospital, and Montreal Children's Hospital were retrospectively reviewed. Seventeen patients (13 boys) were included. The incidence of CES in patients with EA was 3.6%. Fifteen patients had a type C EA, one had a type A EA, and one had an isolated tracheoesophageal fistula. Seven patients had associated additional malformations. The mean age at diagnosis was 11.6 months. All but two patients had non-specific symptoms such as regurgitations or dysphagia. One CES was diagnosed at the time of surgical repair of EA. In 12 patients, CES was suspected based on abnormal barium swallow. In the remaining four, the diagnostic was confirmed by esophagoscopy. Eleven patients were treated by dilation only (1-3 dilations/patient). Six patients underwent surgery (resection and anastomosis) because of failure of attempted dilations (1-7 dilations/patient). Esophageal perforation was encountered in three patients (18%). Three patients had histologically proven tracheobronchial remnants. CES associated with EA is frequent. A high index of suspicion for CES must remain in the presence of EA. Dilatation may be effective to treat some of them, but perforation is frequent. Surgery may be required, especially in CES secondary to ectopic tracheobronchial remnants. PMID:24446921

  8. Outcome for congenital hypothyroidism.

    Science.gov (United States)

    Hulse, J A

    1984-01-01

    In a study designed to provide retrospective control data for a neonatal thyroid screening programme, the problems of 141 hypothyroid children were examined. The mean IQ (Weschler intelligence scale) was 79.5 for children with congenital hypothyroidism but was normal in 6 children diagnosed before age 6 weeks. Diagnostic delay was associated with a steady decline in mean IQ but there was an improvement in some late diagnosed cases. A strong association was found between IQ and parental social class. Twenty five percent of the children were mentally retarded and 29% were at special schools; 54% of children at normal schools and 43% at special schools showed deviant behaviour. Other problems included clumsiness (26.2%) and squints (26.2%), and these were more common in children with a lower IQ. Congenital hypothyroidism is associated with persistent morbidity in many aspects of cerebral function. The adverse effects of prenatal hypothyroidism are largely reversible if treated before age 6 weeks. PMID:6198974

  9. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  10. Congenital lipodystrophies and dyslipidemias.

    Science.gov (United States)

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials. PMID:25047893

  11. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  12. Congenital absence of dermatoglyphs.

    Science.gov (United States)

    Límová, M; Blacker, K L; LeBoit, P E

    1993-08-01

    Congenital absence or unusual patterns of human dermatoglyphs (fingerprints) occur in several syndromes that are rare and poorly understood. The abnormalities of dermatoglyphs fall into four categories: complete absence, ridge hypoplasia, ridge dissociation, and ridges-off-the-end. Complete congenital absence of ridges is an exceedingly rare syndrome that consists of neonatal blisters and milia, adult traumatic blistering and fissuring, absence of sweating, contracture of digits, and absence of dermatoglyphs on the hands and feet. The syndrome is inherited in an autosomal dominant pattern, and only two kindreds have been described in the literature. We describe a newly identified patient and kindred with findings similar to the previously reported cases and review the clinical and histopathologic findings of this syndrome. PMID:8340514

  13. Congenital club foot

    Directory of Open Access Journals (Sweden)

    Baš?arevi? V.D.

    2010-01-01

    Full Text Available Congenital club foot is the most frequent foot deformity. It occurs in 1% of newborns, two times more frequently in boys, with family inheritance. Patoanatomicaly, entity consists of bone deformities, articular malpositions and soft tissues retraction. All these produce adduction of the forefoot and varus and equinovarus of the hindfoot. Lateral side of the foot is convex and medial side is concave. Forefoot is in adduction and plantar flexion in relation to the hindfoot. The heel is rotated medially which induces varus and eqinus of the foot. The aim of the treatment is to establish anatomically normal foot, painless, with moderate movements, which is suitable for normal shoes. At the beginning treatment is nonsurgical. If nonsurgical treatment fails further step should be surgical treatment. The success of treatment of congenital clubfoot depends on the time of diagnosis and treatment beginning.

  14. Congenital anomalies of the mesonephronic duct and fertility

    Directory of Open Access Journals (Sweden)

    Tzvetkova P.

    2007-01-01

    Full Text Available Agenesia of deferential duct and the others congenital malformations of mesonephronical duct are often encountering condition in andrological practice. This study presents the possibilities of reproductive medicine to restore the male fertility and concentrates on biological and clinical aspects of malformations of mesonephronic duct like factors for excretory male infertility. The investigations including 104 patients (mean age 30.25+1.91 years old with congenital anomalies of mesonephronical duct with: Agenesia of mesonephronical derivates - case with unilateral agenesia of the deferent duct, kidney and left urether (n=1; Dysgenesia of the epididymis (n=5; Cysts of the epididymis (n=47; Agenesia of the deferential duct (n=48; Aplasia of the eja-culatorial duct (n=3. The following methods were used: open testicular biopsy by Vilar; objective findings in situ operation; bilateral epididymo - and deferentovesiculography; morphological specimens of the testicular and epididymal tissues; enzymohistochemical analysis of testicular specimens; the ejaculates and morphological analysis of spermatozoa were assessed for quality parameters by the standard protocol; enzymocytological research of spermatozoa in seminal fluid; biochemical analysis of seminal fluid fructose and citric acid concentrations; radioimmunoassay for measurements of blood FSH and testosterone concentration. Results: Most often observed localization of the malformations of mesonephronic canal is bilateral at 54.81%. The testicular specimens proved preserved testicular architecture and spermatogenesis, and the epididymal slides showed dilatation of the epididymal tubules, which were overfilled with a lot of spermatozoa. The strongest expression of the enzymichistochemical NADH-TR reactions is in the Sertoli cells. We observed spermatozoa with disrup-ted configuration among which the abnormalities in sperm head and acrosome were predominated. The biochemical analysis of seminal fluid proves normal citric acid and low or lack of fructose concentration in seminal fluid. There were no breaches in endocrine regulation of the reproductive process. Patients with congenital anomalies of mesonephronic canal have preserving fertility in 31.73%. There are morpho-functional disorders of the testes, epididymis and seminal ducts in 68.27%. Conclusion: There are normal spermatogenesis but definite sterility. These results necessitate an application of plastic reconstructive operation for recovery of fertilizing ability of the patients, or their involvement in ICSI programme. .

  15. Mutations and Down-Regulation of CDX1 in Children with Anorectal Malformations

    Directory of Open Access Journals (Sweden)

    Tao Zhang, Xiao Bing Tang, Li Li Wang, Yu Zuo Bai, Guang Rong Qiu, Zheng Wei Yuan, Wei Lin Wang

    2013-01-01

    Full Text Available Background: Anorectal malformations (ARMs represent a variety of congenital disorders that involve abnormal termination of the anorectum. This study was to reveal relation between CDX1 and human ARMs phenotypes.Methods: 108 Chinese patients and 120 Chinese controls were included in this study. We analyzed the relation between two by PCR, qRT-PCR, western blot and immunofluorescence.Results: Four heterozygous mutations in CDX1 gene were identified in ARMs patients (3.7%, 4/108, no found in controls. CDX1 protein expression was significantly decreased in the ARMs compared with the control anorectum. All samples analyzed in ARMs group exhibited down-regulated CDX1 mRNA expression in comparison to matched normal group, demonstrated significant differences statistically.Conclusion: The findings represented the relation between CDX1 mutations and CDX1 genotype. Furthermore, it was suggested that the downregulation of CDX1 might be related to the development of ARMs.

  16. Could submicroscopical chromosomal imbalances cause cono-truncal malformations in twins?

    DEFF Research Database (Denmark)

    Jensen, Henrik; Kjeldsen, Eigil

    2012-01-01

    The course of normal heart formation in the embryo has been known for decades, but little is known about the genes that control its development. To further improve our understanding of the molecular and genetic mechanisms involved in congenital heart disease, we screened for submicroscopic chromosomal aberrations using bacterial artificial chromosome-based array comparative genomic hybridization analysis in two Danish twin pairs, one pair of monozygotic twins with tetralogy of Fallot, and one twin pair of unknown zygosity with pulmonary valve stenosis. We did not find any major chromosome defects, although a number of submicroscopic copy number variations were present. The question of whether these submicroscopic chromosomal imbalances alone or in conjunction with unknown intrauterine factors causes the observed cono-truncal malformations remains unanswered.

  17. Progressive melorheostosis in the peripheral and axial skeleton with associated vascular malformations: imaging findings over three decades

    Energy Technology Data Exchange (ETDEWEB)

    Kalbermatten, N.T.; Vock, P.; Anderson, S.E. [Dept. of Diagnostic Radiology, University Hospital, Bern (Switzerland); Ruefenacht, D. [Dept. of Diagnostic Radiology, University Hospital, Geneva (Switzerland)

    2001-01-01

    A 28-year old woman presented with Leri's disease (melorheostosis) and the rare combination of complex vascular malformations and lymphatic anomalies. Multifocal melorheostosis was segmental and unilateral, located in the left axial and peripheral skeleton, fifth thoracic vertebral body, fifth rib, left upper limb and lumbosacral spine (third lumbar body to first sacral segment). Sacral involvement was associated with spinal canal stenosis. Additionally the patient had multiple nevi and had suffered from left hemiplegia since birth. Lymphangiectasia of the mesentery and thorax led to chylothorax resistant to therapy for which the patient underwent a pleurope