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Sample records for congenital vertebral malformations

  1. Pediatric congenital vertebral artery arteriovenous malformation

    International Nuclear Information System (INIS)

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. (orig.)

  2. Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations

    OpenAIRE

    Jacobsen F Stig; Glurich Ingrid; Kislow Jennifer; Rasmussen Kristen; Ivacic Lynn; Burmester James K; McPherson Elizabeth; Blank Robert D; Raggio Cathleen L; Ghebranious Nader; Faciszewski Thomas; Pauli Richard M; Boachie-Adjei Oheneba; Giampietro Philip F

    2007-01-01

    Abstract Background Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital vertebral malformations represent a sporadic occurrence, linkage approaches to identify genes associated with human vertebral develop...

  3. Congenital Malformations of Vertebral Articular Processes in Dogs.

    Science.gov (United States)

    Bouma, Jennifer L

    2016-03-01

    Articular process anomalies are considered congenital. Their occurrence in specific breeds may be indicative of undetermined genetics. Clinical significance varies and is interdependent upon location, function and anatomy. Etiology, uniform nomenclature and classification of vertebral articular process anomalies in the dog are lacking; however recent efforts are beginning to address this deficit. This author proposes that the term articular process dysplasia appropriately encompasses the spectrum of anomalies in severity as well as including those affecting both the cranial and caudal articular processes. The general category description of articular process dypslasia doesn't preclude, but rather allows for more specific designations. PMID:26851714

  4. Kyphosis and Kyphoscoliosis Associated with Congenital Malformations of the Thoracic Vertebral Bodies in Dogs.

    Science.gov (United States)

    Dewey, Curtis W; Davies, Emma; Bouma, Jennifer L

    2016-03-01

    Congenital malformations of the thoracic vertebral bodies are commonly encountered in veterinary practice. These anomalies are prevalent in juvenile and adult small-breed dogs. These anomalous vertebrae typically result in various degrees of kyphosis and scoliosis in the region of the abnormality. They are thought to occur following developmental errors during embryonic or fetal vertebral segmentation and ossification; most are incidental. This article focuses on those anomalies of the thoracic vertebral bodies that lead to clinical signs of neurologic dysfunction. Based on a limited number of reported cases, the prognosis for surgically managed dogs with thoracic vertebral body abnormalities is favorable. PMID:26704660

  5. A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds.

    Science.gov (United States)

    Gutierrez-Quintana, Rodrigo; Guevar, Julien; Stalin, Catherine; Faller, Kiterie; Yeamans, Carmen; Penderis, Jacques

    2014-01-01

    Congenital vertebral malformations are common in brachycephalic "screw-tailed" dog breeds such as French bulldogs, English bulldogs, Boston terriers, and pugs. The aim of this retrospective study was to determine whether a radiographic classification scheme developed for use in humans would be feasible for use in these dog breeds. Inclusion criteria were hospital admission between September 2009 and April 2013, neurologic examination findings available, diagnostic quality lateral and ventro-dorsal digital radiographs of the thoracic vertebral column, and at least one congenital vertebral malformation. Radiographs were retrieved and interpreted by two observers who were unaware of neurologic status. Vertebral malformations were classified based on a classification scheme modified from a previous human study and a consensus of both observers. Twenty-eight dogs met inclusion criteria (12 with neurologic deficits, 16 with no neurologic deficits). Congenital vertebral malformations affected 85/362 (23.5%) of thoracic vertebrae. Vertebral body formation defects were the most common (butterfly vertebrae 6.6%, ventral wedge-shaped vertebrae 5.5%, dorsal hemivertebrae 0.8%, and dorso-lateral hemivertebrae 0.5%). No lateral hemivertebrae or lateral wedge-shaped vertebrae were identified. The T7 vertebra was the most commonly affected (11/28 dogs), followed by T8 (8/28 dogs) and T12 (8/28 dogs). The number and type of vertebral malformations differed between groups (P = 0.01). Based on MRI, dorsal, and dorso-lateral hemivertebrae were the cause of spinal cord compression in 5/12 (41.6%) of dogs with neurologic deficits. Findings indicated that a modified human radiographic classification system of vertebral malformations is feasible for use in future studies of brachycephalic "screw-tailed" dogs. PMID:24833506

  6. Congenital malformations in Assam

    OpenAIRE

    Dutta Hemonta; Bhattacharyya N; Sarma J; Kusre Giriraj

    2010-01-01

    Aim : To determine the annual incidence of congenital malformations in Assam and to analyze the data. Materials and Methods : Data regarding babies born with congenital malformations in the state of Assam during the year 2006 were obtained through questionnaires and analyzed. The results were compared with similar Indian data. Results : The overall incidence of congenital malformation was 0.08%. This was considerably lower than similar published data from other states. Five hundred and...

  7. 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.)

  8. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  9. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge; Holst Ravn, Susanne; Cans, Christine; Collaborative Group, SCPE

    2007-01-01

    were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  10. Hippocampal and Congenital Brain Malformations

    OpenAIRE

    J. Gordon Millichap

    2009-01-01

    Sixty two patients, aged 15 days to 18 years, with congenital brain malformations were evaluated retrospectively to determine the association of various brain malformations with hippocampal abnormalities, in a study at Baskent University, Ankara, Turkey.

  11. 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.

  12. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Peter Greally; Basil Elnazir; Montasser Nadeem

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  13. RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

    OpenAIRE

    Alina-Costina LUCA; Mirabela SUBOTNICU

    2015-01-01

    Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

  14. Ethnic differences in congenital malformations.

    OpenAIRE

    Terry, P. B.; Bissenden, J. G.; Condie, R G; Mathew, P M

    1985-01-01

    Perinatal deaths and major lethal and non-lethal congenital malformations occurring in this hospital from 1979-82 inclusive were related to the ethnic group of the 15 438 mothers. The highest crude perinatal mortality rates occurred in Indian and Pakistani populations (18.3 per 1000 and 24.1 per 1000 respectively). The highest incidence of congenital abnormality also occurred in these groups (13.3 per 1000 and 12.8 per 1000 respectively), but there was considerable variation in the distributi...

  15. 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 characte......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...... 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...

  16. Congenital malformations in multiple births

    Directory of Open Access Journals (Sweden)

    Sharada B. Menasinkai

    2013-06-01

    Full Text Available Objective: The present study was done to know and compare the incidence of congenital malformations in singleton and multiple births in our hospital & compare with other studies. Methods: A retrospective study done by collecting the data from parturition register from Jan 2008 to Dec 2011 (4yrs from Cheluvamba Hospital attached to Mysore Medical College and Research Institute. Total number of the live births, still births, and abortions> 20 wks were collected. Details of multiple births such as maternal age, gestational age, sex & birth weight of the babies, U/S reports and congenital anomalies (CA were noted. Results: The total number of singleton births were 48700 and number of babies who had congenital malformations were 235 (48.25/10,000 births.Total number of multiple births were 579 including 10 triplets and number of babies who had CA were 11 (189.98/10,000 births, P<0.0001. In the present study sex of the babies were noted in all multiple births and zygosity could not be recorded. Among 579 multiple births 404 were of the Same Sex (SS and 165 were of Opposite Sex (OS in twins and 6 were of the same sex and 4 were of opposite sex in triplets. According to Weinberg formula 50% of same sex (SS twins are monozygotic and 50% are dizygotic twins. Among the 11 babies with CA, 4 monozygotic twins had anomalies related to twinning such as Acardia with TRAP sequence (3 twins, and Thoracophagus (1 twin.5 babies had CNS anomalies, 1 with cystic hygroma, 1 baby with multiple system affected. Conclusion: The incidence of birth defects is more in multiple births and especially in monozygotic twins. In the present days increase in twinning rate due to advanced maternal age, hereditary factors and use of ovulation inducing drugs, which results in premature and low birth wt babies associated with poor lung maturity. [Int J Res Med Sci 2013; 1(3.000: 216-221

  17. 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.)

  18. Congenital cardiac malformations in congenital hypothyroid patients in Isfahan

    OpenAIRE

    Mohammad Reza Sabri; Hossein Shahriari; Mahin Hashemipour

    2006-01-01

    BACKGROUND: Congenital hypothyroidism (CH) often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfahan. METHODS: In this cross-sectional study, cardiac malformations were determined in CH patients were compared to controls using echocardiography. The association between cardiac malformations and mean T4 and TSH...

  19. Infertility, infertility treatment, and congenital malformations

    DEFF Research Database (Denmark)

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

    2006-01-01

    an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. CONCLUSIONS: Hormonal treatment for infertility may be related to...... the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between...

  20. 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...

  1. 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...

  2. STUDY OF CONGENITAL MALFORMATIONS IN NEWBORN

    OpenAIRE

    Koteswara Rao,; Krishna Prasad; Manikyamba; Adi Reddy; Solomon Saawan; Anusha

    2015-01-01

    The etiology of congenital malformations has not been clearly defined. It is interesting to note that certain congenital malformations are more prevalent in some areas 1 . Neural tubal defects (NTD) are common in Punjab an d cleft lip (CL) is common in south India. Gastrointestinal tract defects are detected from south i.e. Mysore, Trivandrum, Hyderabad and Pondicherry. Polydactyly was prevalent in south India and Chandigarh. Incidence of Talipes was highest in Delhi and ...

  3. Common congenital malformations of the brain

    International Nuclear Information System (INIS)

    In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

  4. Characterization of Live Birth with Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Carlos Acosta Batista

    2015-06-01

    Full Text Available Background: the congenital malformations constitute the first cause of infantile death in developed countries, as well as the second cause of death in Cuba, in younger children of an elderly year. Objective: characterizing the live birth newborns with congenital malformations at Marianao municipality during the year 2011. Methods: descriptive, cross-section study of 30- live birth with congenital malformations at Marianao municipality in Havana, during the year 2011. Some of analyzed variables were: sex, affected system, congenital malformation, type of malformation, severity, birth weight, gestational age, prenatal diagnosis, family history of congenital malformation, maternal age, among others. Results: the masculine sex was the more affected, with 18 cases that represented the 60 %. The Polydactyl was the malformation further frequent, with 23.3 %, followed by the pre-aural appendix, with 10 %. The 20 % was born pre-term and only in the 10 % of the cases was obtained a positive result in the tests of prenatal diagnosis. Conclusions: the live birth with MC were characterized to be males with isolated MC and less severe, full term, normopeso, without family history of the aforementioned affection and with a negative prenatal diagnosis. The majority of mothers belonged to 20-35's age group years, they suffered from hypertension and during pregnancy, the principal diseases that they presented were the sepsis and anemia.

  5. 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

  6. 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.)

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

    International Nuclear Information System (INIS)

    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.)

  8. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge; Holst Ravn, Susanne; Cans, Christine; Collaborative Group, SCPE

    2007-01-01

    .001). CONCLUSION: Cerebral malformations were much more frequent among children with CP than among all livebirths in the population. Malformations in organ systems close to the brain (eye, facial clefts) were more frequent in the CP population while malformations in organ systems further from the brain (renal......, genital) were more frequent in the general population....

  9. A gene map of congenital malformations.

    OpenAIRE

    Wilkie, A.O.; Amberger, J S; McKusick, V A

    1994-01-01

    Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifical...

  10. CT of congenital malformations of the lung.

    Science.gov (United States)

    Mata, J M; Cáceres, J; Lucaya, J; García-Conesa, J A

    1990-07-01

    We reviewed 40 cases of congenital malformations of the lung that were studied with both plain radiography and computed tomography (CT). We compared the CT findings with those of radiography. We found that CT was helpful in the management of these cases because it helped confirm the diagnosis, demonstrated unsuspected findings, and better depicted anatomic extent of anomalies, thus allowing better planning for surgery. We believe that CT is the method of choice for the study of congenital lung malformations and that it should be used before more invasive procedures such as bronchography or aortography. PMID:2377765

  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. 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.

  13. MR findings of congenital anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  14. Angiocardiography in congenital heart malformations

    International Nuclear Information System (INIS)

    The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders

  15. 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...

  16. Debendox and congenital malformations in Northern Ireland.

    OpenAIRE

    Shanks, R. G.; Griffiths, K.; Harron, D. W.

    1981-01-01

    An investigation was carried out in Northern Ireland into the alleged association between fetal abnormalities and Debendox, an antiemetic drug used in pregnancy. During the period 1966-78 the total number of births each year and the overall incidence of congenital malformations per 10 000 births fell. The incidences of cleft lip, cleft palate, reduction deformities, and defects of the heart and great vessels fell from 1966 to 1976 but increased in 1977 and 1978. During the same period (1966-7...

  17. 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.)

  18. 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.)

  19. 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

  20. 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.

  1. 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.

  2. Congenital vascular malformations in scintigraphic evaluation

    International Nuclear Information System (INIS)

    Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression

  3. 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 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...

  4. 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...

  5. 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

  6. Valproic acid monotherapy in pregnancy and major congenital malformations

    DEFF Research Database (Denmark)

    Jentink, Janneke; Loane, Maria A; Dolk, Helen; Barisic, Ingeborg; Garne, Ester; Morris, Joan K; de Jong-van den Berg, Lolkje T W

    2010-01-01

    The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

  7. Mortality from congenital malformations by mother's country of birth.

    OpenAIRE

    Balarajan, R; McDowall, M.

    1985-01-01

    Mortality from congenital malformations by mother's country of birth was examined in England and Wales between the years 1976 and 1980, based on stillbirths and infant deaths. There were 18 870 stillbirths and infant deaths attributed to congenital malformations in this period, of which 2 375 (13%) were to mothers born outside the United Kingdom. There were excess deaths from malformations among Pakistani, Indian/Bangladeshi, African, and Irish mothers. In contrast, West Indian mothers had a ...

  8. 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...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

  9. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    OpenAIRE

    Bengt Källén; Birgitta Norstedt Wikner

    2014-01-01

    Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes o...

  10. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    OpenAIRE

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

    2013-01-01

    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 historic...

  11. Open resections for congenital lung malformations

    Directory of Open Access Journals (Sweden)

    Mullassery Dhanya

    2008-01-01

    Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

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

    Directory of Open Access Journals (Sweden)

    ?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.

  13. 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

  14. Transcatheter arterial embolization for congenital renal arteriovenous malformation

    International Nuclear Information System (INIS)

    Objective: To evaluate the effectiveness of transcatheter arterial embolization for congenital renal arteriovenous malformation. Methods: Seven cases of congenital renal arteriovenous malformation causing gross hematuria were retrospectively studied. All of 7 cases were demonstrated by means of angiography and then the catheter was placed superselectively into the involved arterial end of the malformation undertaking embolization with gelfoam, dehydrated ethanol, coils, etc. Results: All the malformations of the 7 cases were successfully embolized with stoppage of gross hematuria within 24 hours. No serious complications occurred except lumbago, fever, gastrointestinal reaction for one week. There was no recurrence of haematuria and the renal function was also normal in all cases during the follow-up for 36 to 98 months. Conclusions: Transcatheter renal arterial angiography and embolization are the important and effective management for the diagnosis and treatment of congenital renal arteriovenous malformation. (authors)

  15. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    OpenAIRE

    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.

  16. Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

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

    OpenAIRE

    McElhinney, D; Van V. Halbach; N Silverman; 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.??

  18. 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 ...

  19. Screening for congenital heart malformations in child health centres

    OpenAIRE

    Juttmann, Rikard

    1999-01-01

    The objective of this thesis is to clarify the effectiveness and the efficiency of screening for congenital heart malformations in Dutch child health centres and the possibilities to optimise this prevention programme. To this end the following main questions will be addressed. 1. Does screening for congenital heart malformations, as actually performed in Dutch child health centres, prevent adverse outcomes of these disorders in the short and long run? What would be the answer to this questio...

  20. Amplatzer vascular plugs in congenital cardiovascular malformations

    Directory of Open Access Journals (Sweden)

    Parag Barwad

    2013-01-01

    Full Text Available Background: 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. Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: 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. Results: 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. Conclusions: 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.

  1. Accessory tongue and other Congenital Malformations in a Calf

    OpenAIRE

    ORHAN, ?. Önder; HAZIRO?LU, R. Merih

    2001-01-01

    In this study, congenital malformations are described in one calf. In the calf, accessory tongue, which is a rare condition, was determined together with palatoschisis and growth malformations of cranial bones. The accessory tongue observed in this study is the first case described in calves.

  2. 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...

  3. Socio- Cultural Variables Of Congenital Malformation In Newborns

    Directory of Open Access Journals (Sweden)

    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.

  4. 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

  5. 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)

  6. Espectro óculo-aurículo-vertebral e malformações cardíacas Oculo-auriculo-vertebral spectrum and cardiac malformations

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2010-01-01

    Full Text Available OBJETIVO: Verificar a frequência e tipos de cardiopatias congênitas em uma amostra de pacientes portadores de espectro óculo-aurículo-vertebral (EOAV, tentando correlacionar a presença desta malformação com suas demais características clínicas e evolução. MÉTODOS: A amostra foi composta por 33 indivíduos, todos atendidos em um mesmo centro, no período de janeiro de 1975 a dezembro de 2007. Vinte e dois deles eram do sexo masculino e 11 do feminino e suas idades variaram de 1 dia a 17 anos. Todos apresentavam avaliação cariotípica normal por bandas GTG. Realizou-se uma coleta de dados referentes à sua história clínica, exame físico e resultado de avaliações complementares. RESULTADOS: Anormalidades cardíacas foram observadas em 13 pacientes (39,4%. Dessas, cinco (38,5% eram do tipo conotruncal, sendo o principal defeito a tetralogia de Fallot (n=2. Malformações não usuais identificadas incluíram o cor triatriatum e a dupla via de entrada de ventrículo esquerdo. Diferenças significativas entre as características clínicas do grupo com e sem cardiopatia foram verificadas somente em relação à idade na primeira avaliação, que foi mais baixa naqueles com malformações cardíacas. Cinco indivíduos foram a óbito, quatro deles portadores desses defeitos. CONCLUSÃO: Malformações cardíacas, em especial dos tipos conotruncal e septal, são frequentes entre pacientes com EOAV. A frequência encontrada em nosso estudo foi estatisticamente similar à da maior parte dos trabalhos descritos na literatura, que oscila de 18% a 58%. As cardiopatias congênitas também representam a principal causa de óbito desses indivíduos. Portanto, uma avaliação cardiológica, especialmente precoce, deveria ser sempre realizada nesses pacientes.OBJECTIVE: To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS, in an effort to correlate presence of these defects with other clinical characteristics and evolution. METHODS: The sample comprised 33 subjects, all attended in the same center, between January 1975 and December 2007. Twenty two of them were male and eleven female and their ages ranged from 1 day to 17 years. All presented normal karyotype by GTG-Banding. A data collection related to their clinical history, physical examination and result of complementary evaluations was performed. RESULTS: Cardiac abnormalities were observed in 13 patients (39.4%. Of these defects, 5 (38.5% were conotruncal, tetralogy of Fallot being the main malformation (n=2. Unusual anomalies identified included cor triatriatum and double inlet left ventricle. Significant differences among the clinical characteristics of the group with and without heart defect were only verified in relation to age at first evaluation that was lower in subjects with cardiac malformations. Five patients died, four of them, bearers of congenital heart defects. CONCLUSION: Cardiac malformations, mainly conotruncal and septal defects, are frequent among patients with OAVS. Frequency found in our study was statistically similar to the majority of works described in literature where it ranged from 18 to 58%. Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age.

  7. 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

  8. Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study

    DEFF Research Database (Denmark)

    Jentink, Janneke; Dolk, Helen; Loane, Maria A; Morris, Joan K; Wellesley, Diana; Garne, Ester; de Jong-van den Berg, Lolkje

    2010-01-01

    To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.......To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy....

  9. 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

  10. Diffusion imaging and tractography of congenital brain malformations

    International Nuclear Information System (INIS)

    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.)

  11. Congenital malformations in the neonatal unit of Arifin Achmad Hospital, Pekanbaru: occurrence and trends

    OpenAIRE

    Dewi Anggraini Wisnumurti

    2012-01-01

    Background Congenital malformations are a global and continual issue, contributing to neonatal mortality. The incidence and prevalence, as well as distribution of congenital malformations vary among countries. Objective To determine the`prevalence, distribution, and trends in congenital malformations which are important to develop plans to cope with the problem. Methods We reviewed all cases of congenital malformations admitted ti the Neonatal Unit, Department of Child Health, Arifin ...

  12. Study of Congenital Malformation in Neonates Born at Tertiary Care Hospital

    Directory of Open Access Journals (Sweden)

    Vaishali J Prajapati, Asruti R Kacha, Khyati M Kakkad, Panchsila B Damor, Abhishek M Nandaniya

    2015-01-01

    Conclusion: Incidence of congenital malformations was significantly high in still born babies. Factors like prematurity, low birth weight, birth order four or more, liquor abnormalities and maternal age more than 35 years were found to carry higher risk for congenital malformations. Musculoskeletal system was most commonly affected. Congenital talipes equino varus was the commonest malformation."

  13. Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

    International Nuclear Information System (INIS)

    Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

  14. 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

  15. Transcatheter arterial ethanol embolization for congenital renal arteriovenous malformations

    International Nuclear Information System (INIS)

    Objective: To discuss the effect and safety of trans-microcatheter arterial embolization with ethanol for the treatment of congenital renal arteriovenous malformations. Methods: Clinical data of 11 patients with congenital renal arteriovenous malformations manifested mainly as gross hematuria were retrospectively analyzed. Selective renal angiography was performed in all 11 patients. After the diagnosis was confirmed, super-selective catheterization of the diseased arteries was carried out and the trans-microcatheter arterial embolization with ethanol was conducted. Results: A total of 12 procedures were completed in 11 patients. The ethanol dose used in one procedure was 5-25 ml. Successful embolization of the congenital renal arteriovenous malformations was obtained in all patients. The gross hematuria disappeared within 24-48 hours after the treatment. Lumbago at treated side, low fever, abdominal distension, nausea, vomiting, etc. occurred within one week and no other serious complications developed. During the follow-up period lasting for 4-96 months, no recurrence of hematuria was observed and the renal function remained normal. Conclusion: Transcatheter arterial ethanol embolization is an economic, safe and effective treatment for congenital renal arteriovenous malformations. (authors)

  16. Prenatal diagnosis of congenital renal and urinary tract malformations

    OpenAIRE

    Hindryckx, A.; De Catte, L.

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified ­malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and ­requiring early postnatal evaluation or treatment to minimize adverse outcomes.

  17. DANDY-WALKER MALFORMATION: A RARE CONGENITAL ANOMALY

    Directory of Open Access Journals (Sweden)

    Uroos

    2014-08-01

    Full Text Available Dandy Walker Malformation (DWM is a congenital malformation involving the cerebellum and fluid filled spaces around it. A key feature of this syndrome is partial or complete absence of a part of brain located between two cerebellar hemispheres ie. cerebellar vermis.(1 Dandy walker malformation was originally described in 1887 by Sutton and further characterized by Dandy and Blackfan in 1914 followed by Tagart and Walker in 1942. Benda finally labeled this disease as Dandy Walker in 1954. (2 Since the original description, additional studies have reported on various morphological features of this syndrome. It is a genetically sporadic disorder that occurs one in every 30,000live births. (3 Because of its rarity, here we report a case of DWM, in a fetus in which the diagnosis was made prenatally on USG. Later on, MTP was done by expulsion. Fetus was sent for autopsy to rule out other associated congenital abnormalities

  18. Prenatal diagnosis of congenital lung malformations

    International Nuclear Information System (INIS)

    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.)

  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. 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...

  1. [Vertebral and multiple organ malformations in a black and white German Holstein calf].

    Science.gov (United States)

    Buck, Bettina Constanze; Ulrich, Reiner; Wöhlke, Anne; Kuiper, Heidi; Baumgärtner, Wolfgang; Distl, Ottmar

    2010-01-01

    A male black and white German Holstein calf showed a congenital, high-graded scoliosis and rotation of the thoracal spinal cord associated with shortening and fusion of multiple vertebral bodies and abnormal bending of the processus spinosus. Furthermore reduced birth weight, partial hypoplasia of the lung, excessive liver segmentation, doubled gall bladder, rectal atresia, horseshoe kidney, and uterine atresia were found. Due to the exclusion of a point mutation in exon 4 of the solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3) gene, complex vertebral malformation (CVM) was ruled out. Conclusively, it is hypothetized that the presented case resembles a new brachyspina syndrome with a still unresolved genetic etiology. PMID:20496833

  2. Mortality among infants with congenital malformations, New York State, 1983 to 1988.

    OpenAIRE

    Druschel, C; Hughes, J.P.; Olsen, C.

    1996-01-01

    OBJECTIVE. The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS. Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number of malformations, number of organ systems involved, level of care of the birth hospital, maternal age, mater...

  3. 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

  4. 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.

  5. 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.)

  6. 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...

  7. 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...

  8. 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.

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

    OpenAIRE

    Daniela Iacob; RE Iacob; Marioara Boia; Aniko Manea; Mirabela Dima

    2006-01-01

    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. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    OpenAIRE

    Chengming Fan; Can Huang; Jijia Liu; Jinfu Yang

    2015-01-01

    A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month fo...

  11. Magnetic resonance venography of congenital vascular malformations of the extremities

    International Nuclear Information System (INIS)

    Contrast angiography can demonstrate the vascular components of a vascular malformation, but can be technically challenging in small patients with complex venous anomalies. We reviewed the role of magnetic resonance venography (MRV) in the evaluation of children with predominantly low-flow, vascular malformations of the extremities. MRV (2D time-of-flight technique) and magnetic resonance (MR) imaging examinations were performed in ten young patients with congential predominantly low-flow vascular malformations of the extremities. MR imaging was used to characterize and determine the extent of the malformations, and MRV to evaluate the deep and superficial venous channels. In all patients, MRV studies were reviewed in conjunction with contrast angiograms, considered the gold standard, to confirm the findings. All signficant channel anomalies seen with contrast angiography were identified with MRV. In addition, MRV demonstrated some veins that were not intentionally opacified during contrast studies. MRV demonstrates both the superficial and deep conducting veins, whereas contrast angiography is a more directed study, evaluating only those channels intentionally opacified. Together, MR imaging and MRV data can non-invasively form the basis for determining the prognosis and choosing the individual treatment of congenital vascular malformations of the extremities. (orig.)

  12. Transgenerational transmission of radiation damage. Genomic instability and congenital malformation

    International Nuclear Information System (INIS)

    The congenital malformation gastroschisis has a genetic disposition in the inbred mouse strain HLG/Zte. It is increased after preconceptional irradiation of males or females. Radiation exposures during the meiotic stages are most efficient. This malformation can also be induced by ionising radiation when the exposure takes place during the preimplantation period especially during the zygote stage. This latter effect can be transmitted to the next mouse generation. Other macroscopically visible or skeletal malformations are not significantly induced under these experimental conditions. These latter malformations are increased by radiation exposures during major organogenesis. The mechanisms for the development of the effects are different. Radiation exposure of the mouse zygote (1 to 3 hours p.c.) also leads to the induction of genomic instability in skin fibroblasts of the fetus. This phenomenon also occurs in a mouse strain (C57BL/6J) which is not susceptible to radiation-induced gastroschisis during the preimplantation period. The genomic instability is transmitted to the next mouse generation. During genomic instability chromatide breaks are dominating as in non-exposed cells. With respect to ''spontaneous'' malformations gastroschisis is dominating in HLG/Zte mice. Late radiation effects seem to have similar patterns as observed in non-exposed subjects, however, the rates are increased after irradiation. (author)

  13. 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...

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

    OpenAIRE

    Swapnil R. Jain; Naik, Jayashree D.; Babasaheb R. Dhakne; Prabhu, Priya M; Sandesh V. Kamble; Madhuri P. Mathurkar

    2016-01-01

    Background: Data on congenital malformations from developing countries like India are very few. However, it is important to have comprehensive and reliable data on the description and frequency of congenital malformations to allow surveillance and the implementation of appropriate public health strategies for prevention and management. In this study, we describe the pattern of congenital malformations seen in newborns delivered in tertiary care hospital of western Maharashtra. The objective w...

  15. Intralobar bronchopulmonary sequestration in the newborn - a congenital malformation

    International Nuclear Information System (INIS)

    Background. Intralobar sequestration (ILS) has been suggested to be an acquired lesion. However, we have observed several young infants who had ILS. Objectives. Since this fact seems to indicate a congenital origin, we reviewed our experience. Material and methods. A retrospective review of bronchopulmonary sequestration from the Departments of Radiology and Pathology in Lund between 1964 and 1997. Results. We identified seven infants or young children with a diagnosis of intralobar sequestration. In each patient, the ILS was present before recurrent infection developed. Five had chest X-rays as neonates, one at 3 months and one at 11 months of age. All but one showed an abnormality on their first chest X-ray, consistent with sequestration. Six of the ILS were verified at angiography; all seven were surgically removed. Two of the children with ILS also had congenital cystic adenomatoid malformation (CCAM). Three children had both ILS and scimitar syndrome. Conclusions. The fact that ILS was present in seven newborn and young infants indicates that this lesion is, at least in some patients, a congenital malformation. (orig.)

  16. Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.

    Science.gov (United States)

    Uysal, Berfin; Dönmez, Osman; Uysal, Fahrettin; Akac?, Okan; Vuru?kan, Berna Aytaç; Berdeli, Afig

    2015-02-01

    Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years. PMID:25711261

  17. 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), ...

  18. Congenital cystic adenomatoid malformation: case presentation in a two months old infant

    International Nuclear Information System (INIS)

    Congenital cystic adenomatoid malformation (CCAM) is a rare abnormality of lung development; it is increasingly detected by the routine ultrasound scan during pregnancy. The severity of the abnormality is very variable. Herein, we present a case of congenital cystic adenomatoid malformation that presented in a two months old infant who had normal initial chest X rays. (author)

  19. Research Concerning the Correlations Between Urinary Tract Infections and Congenital Malformations of the Renourinary System

    Directory of Open Access Journals (Sweden)

    Moréh Zsuzsanna

    2013-02-01

    Full Text Available Introduction: Congenital malformations of the urinary system are risk factors for the development of urinary tract infections (UTI. Besides the severity of the malformation, urinary infection is always associated with poor prognosis for these patients. Late discovery of the malformation background, after several urinary tract infection episodes, contributes to the development of chronic pyelonephritis that may lead to chronic renal failure.

  20. 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.

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

    OpenAIRE

    Alorainy Ibrahim

    2006-01-01

    Background: 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 neuroembryologic 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. Patie...

  2. 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...

  3. Congenital abnormalities of the vertebral column in ferrets.

    Science.gov (United States)

    Proks, Pavel; Stehlik, Ladislav; Paninarova, Michaela; Irova, Katarina; Hauptman, Karel; Jekl, Vladimir

    2015-01-01

    Vertebral column pathologies requiring surgical intervention have been described in pet ferrets, however little information is available on the normal vertebral formula and congenital variants in this species. The purpose of this retrospective study was to describe vertebral formulas and prevalence of congenital vertebral anomalies in a sample of pet ferrets. Radiographs of 172 pet ferrets (96 males and 76 females) were included in this retrospective study. In 143 ferrets (83.14%), five different formulas of the vertebral column were recorded with normal morphology of vertebrae (rib attachment included) but with a variable number of thoracic (Th), lumbar (L), and sacral (S) vertebrae. The number of cervical (C) vertebrae was constant in all examined animals. Observed vertebral formulas were C7/Th14/L6/S3 (51.74%), C7/Th14/L6/S4 (22.10%), C7/Th14/L7/S3 (6.98%), C7/Th15/L6/S3 (1.74%), and C7/Th15/L6/S4 (0.58%). Formula C7/Th14/L6/S4 was significantly more common in males than in females (P vertebrae represented the most common congenital abnormalities (26 ferrets) in the thoracolumbar (13 ferrets) and lumbosacral regions (10 ferrets) or simultaneously in both regions (three ferrets). Other vertebral anomalies included block (two ferrets) and wedge vertebra (one ferret). Spina bifida was not detected. Findings from the current study indicated that vertebral formulas may vary in ferrets and congenital abnormalities are common. This should be taken into consideration for surgical planning. PMID:25124147

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

    OpenAIRE

    Saminathan; Mythili,; Sirajuddin,; Mrs. Geetha

    2015-01-01

    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...

  5. 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

  6. 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...

  7. CT analysis of 333 cases of congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    To analyze the different CT findings of congenital malformations of the external and middle ear, 333 cases including 404 ears with external and middle ear malformations diagnosed by high resolution CT (HRCT) were analysed according to the location and type of the malformation. In 404 ears, there were 364 ears with atresia of external auditory meatus, 40 ears with stenosis of external auditory meatus, 377 ears with malformation of the ossicles, 382 ears with stenosis of tympanum and 333 ears with anterior position of the mastoid segment of the facial canal. HRCT can show the location and type of external and middle ear malformation and provide valuable information for surgery

  8. 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...

  9. Pregnancy exposure to olanzapine, quetiapine, risperidone, aripiprazole and risk of congenital malformations. A systematic review

    DEFF Research Database (Denmark)

    Ennis, Zandra Nymand; Damkier, Per

    2015-01-01

    To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first......-trimester exposure and pregnancy outcome with respect to congenital malformations. Cumulated data for olanzapine were 1090 first-trimester-exposed pregnancies with 38 malformations resulting in a malformation rate of 3.5%. The corresponding numbers for quetiapine, risperidone and aripiprazole were 443/16 (3.6%), 432...... congenital malformation. Data for quetiapine and risperidone do not suggest a substantially increased risk, while the risk estimate for aripiprazole remains imprecise owing to a low amount of data....

  10. 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.

  11. Congenital Malformations Associated with the Administration of Oral Anticoagulants During Pregnancy

    Science.gov (United States)

    Pettifor, J. M.; Benson, R.

    1975-01-01

    Reported are case histories of three infants with congenital malformations (including defective formation of the nose and hands) associated with ingestion of oral anticoagulants during the first trimester of pregnancy. (CL)

  12. Pleural pneumatocoeles mimicking congenital cystic adenomatoid malformation of the lung. A case report

    International Nuclear Information System (INIS)

    We present the plain radiographic and CT appearances of large intrapleural pneumatocoeles in a 13-week-old infant, resulting in compression atelectasis of the left upper and lower lobes, and mimicking congenital cystic adenomatoid malformation. (orig.)

  13. 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...

  14. 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.)

  15. 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.......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....

  16. Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality

    OpenAIRE

    Keerti Singh; Kandamaran Krishnamurthy; Camille Greaves; Latha Kandamaran; Anders L. Nielsen; Alok Kumar1 ,

    2014-01-01

    Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only f...

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

    OpenAIRE

    Saiyad SS; Jadav Hrishikesh R

    2012-01-01

    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 cas...

  18. 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.

  19. 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

  20. 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

  1. 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

  2. Trimethoprim Use prior to Pregnancy and the Risk of Congenital Malformation

    DEFF Research Database (Denmark)

    Andersen, Jon Trærup; Petersen, Morten; Jimenez-Solem, Espen; Rasmussen, Jeppe Nørgaard; Andersen, Nadia Lyhne; Afzal, Shoaib; Broedbaek, Kasper; Hjelvang, Brian Rafn; Køber, Lars; Torp-Pedersen, Christian; Poulsen, Henrik Enghusen

    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...

  3. Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Solem, Espen Victor Jimenez; Andersen, Jon Thor Trærup; Petersen, Morten; Brødbæk, Kasper; Jensen, Jonas Krogh; Afzal, Shoaib; Gislason, Gunnar Hilmar; Torp-Pedersen, Christian Tobias; Poulsen, Henrik Enghusen

    2012-01-01

    Objectives:To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. DESIGN: Register-based retrospective nationwide cohort study, using the Danish Medical Birth Registry. SETTING: Denmark....... PARTICIPANTS: Pregnant women in Denmark between 1997 and 2009 and their offspring. PRIMARY OUTCOME MEASURES: For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic regression models for women exposed to an SSRI during the first trimester and for women with paused...... exposure during pregnancy. RESULTS: The authors identified 848¿786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout the...

  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. 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...... included. A total of 6024 women were exposed to topical chloramphenicol in the first trimester. The rate of congenital malformations was 3.50% among offspring of exposed mothers and 3.49% among unexposed. Exposure to topical chloramphenicol in the first trimester was not associated with major congenital...... chloramphenicol eye drops or eye ointment in the first trimester of pregnancy and major congenital malformations. This is in accordance with a previous study analysing the risk of systemic chloramphenicol....

  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. 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

  10. 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

    2016-01-01

    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...... 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...... 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...

  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. Risk of congenital malformations among children of construction painters in Denmark

    DEFF Research Database (Denmark)

    Tougaard, Ninna Hahn; Bonde, Jens Peter; Hougaard, Karin Sørig; Jørgensen, Kristian Tore

    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...... 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...

  14. 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...

  15. 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...

  16. 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.

  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. 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.

  19. Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-Dechaume-Blanc syndrome or Wyburn-Mason syndrome)

    OpenAIRE

    Schmidt D.; Agostini H; Schumacher M

    2010-01-01

    Abstract Purpose Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome. Methods MRI and cerebral angiography. Results In a 36-year-old man, magnetic resonance im aging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. Additional congenital deficits in this patient were described. ...

  20. Genetic consequences of the Chernobyl accident. Monitoring of congenital malformations in Kaluga region

    International Nuclear Information System (INIS)

    The study concentrates on the genetic after-effects of the Chernobyl accident in some districts of Kaluga's region. The frequencies and range of congenital malformations, prematurely death-rate in the radionuclear polluted districts were compared with the control districts. Prematurely death-rate in compared regions is the same. The increase of the congenital malformation frequency is revealed in one the polluted districts (256/10000) as compared with the control one (27/10000). We assume that the observed effect is mainly connected with the professional activity of the population. 11 refs., 4 tabs

  1. 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

    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......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...... 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...

  2. 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.

  3. 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.

  4. 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

  5. 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)?

  6. Terminal deletion with stable acentric fragment of 1q in a child with congenital malformations

    OpenAIRE

    Ku?erová, M.; Polívková, Z; Dluholucký, S; Kvasnicová, M.

    1983-01-01

    The terminal deletion with stable acentric fragment of 1q was found in a girl with multiple congenital malformations and severe mental retardation. The karyotype of both parents was normal, and the aberration appears de novo. The medium did not influence the expression of the aberration.

  7. The Use of Cyanoacrylate Adhesives in the Management of Congenital Vascular Malformations

    OpenAIRE

    Rosen, Robert J.; Contractor, Sohail

    2004-01-01

    This article outlines the use of liquid acrylic adhesives in the management of congenital vascular malformations. Specifically, the chemical features of cyanoacrylates, including the physical and chemical properties, exovascular use of cyanoacrylates, and the techniques for use of these agents, are discussed.

  8. Mixed form of congenital cystic adenomatoid malformation and extralobar bronchopulmonary sequestration : a case report

    International Nuclear Information System (INIS)

    Bronchopulmonary sequestration (BPS) and congenital cystic adenomatoid malformation (CCAM) are rare, but both should be included in the differential diagnosis of fetal lung mass. We experienced a mixed form of Stocker type-III CCAM and extralobar BPS, and present this case, together with a review of the related literature. (author)

  9. 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.)

  10. 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

  11. 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.

  12. Chiari Malformation

    Science.gov (United States)

    ... continue Causes Doctors may refer to a Chiari malformation as "congenital," which means that a child developed it in ... had it at birth. Most cases of Chiari malformation are congenital, and often the cause is unknown. When a ...

  13. Preoperative diagnosis and surgical strategy in congenital auditory ossicular malformation of 26 ears

    International Nuclear Information System (INIS)

    We retrospectively analyzed 26 ears of 21 subjects having auditory ossicular malformation and who had undergone auditory reconstruction between April 2004 and December 2010 at our clinic. We checked preoperative condition, pathological classification, surgical procedure, and hearing improvement. We could predict pathological conditions precisely from preoperative computed tomography (CT), including incudostapedial disconnection (9/12, 75%) and malleus and/or incus fixation (7/12, 58%), which tended to be present in external ear malformation, and stapes footplate fixation (0/12, 0%). We could not, however, predict complex malformation (0/8, 0%). Overall success was 90% (18/20) in the 20 ears observed for at least 1 year. In the 2 ears without improved hearing, the first had congenital cholesteatoma and no stapes superstructure, was treated with type IV tympanoplasty. The second had malleus, incus, and stapes fixation and discontinuity between the incus and stapes, and was treated with type III tympanoplasty and stapes mobilization. Preoperative diagnosis is difficult in mixed congenital auditory ossicular malformation, especially stapes footplate fixation, possibly requiring unexpected procedures, with a poor hearing outcome. Preoperative status must thus be evaluated precisely using hearing, tympanometry, acoustic reflex test, and CT. Temporal bone CT and external ear findings are useful in diagnosing middle-ear malformation. Subjects' informed consent should also be obtained due to the possible need for changing procedure based on findings during surgery. (author)

  14. 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.)

  15. 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...

  16. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

    OpenAIRE

    Tennstedt, C; Chaoui, R; KORNER, H.; Dietel, M

    1999-01-01

    OBJECTIVE—To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy.?MATERIAL—Necropsies were performed on 815 fetuses—448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)—during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%...

  17. Radiotherapy for childhood cancer and risk for congenital malformations in offspring: a population-based cohort study

    OpenAIRE

    Winther, JF; Boice, JD; Frederiksen, K.; Bautz, A; Mulvihill, JJ; Stovall, M.; Olsen, JH

    2008-01-01

    Offspring of childhood cancer survivors may be at risk of genetic disease due to the mutagenic cancer treatments received by their parents. Congenital malformations were evaluated in a population-based cohort study of 1715 offspring of 3963 childhood cancer survivors and 6009 offspring of 5657 survivors’ siblings. The Danish Central Population Register, Cancer Registry and Hospital Register were used to identify study subjects and congenital malformations. Gonadal and uterine radiation doses ...

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

    OpenAIRE

    S. W. Siswanti; C. Sumantri; Jakaria

    2014-01-01

    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 p...

  19. 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.

  20. 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.

  1. 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

  2. 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.)

  3. Giant congenital malformation of the perirectal plexus in computed tomography imaging – case report

    International Nuclear Information System (INIS)

    Congenital arteriovenous malformation (AVM) in the pelvic area is uncommon in males. The described case is of a giant lesion of this type that caused recurrent hemorrhaging in the lower part of the gastrointestinal tract. Preliminary diagnosis of vascular pathology was made on the basis of an endoscopic examination that revealed numerous pulsating protuberances of the rectal wall, in which blood flow was identified by means of transrectal ultrasonography. Complementing the diagnostics with a CT revealed a considerable extent of malformation, as well as its morphology and anatomical relations with the surrounding tissues. Following a two-year follow-up period, the malformation did not progress or demonstrate any intensification of clinical symptoms, therefore the patient continues to undergo conservative treatment

  4. 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...

  5. 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.)

  6. Embolization of Uterine Arteriovenous Malformations Associated with Cyanotic Congenital Heart Disease

    International Nuclear Information System (INIS)

    Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.

  7. ANTIBIOTICS POTENTIALLY USED IN RESPONSE TO BIOTERRORISM AND THE RISK OF MAJOR CONGENITAL MALFORMATIONS

    OpenAIRE

    Cooper, William O; HERNANDEZ-DIAZ, Sonia; Arbogast, Patrick G; Dudley, Judith A.; Dyer, Shannon M.; Gideon, Patricia S.; Hall, Kathleen S; Kaltenbach, Lisa A.; Ray, Wayne A.

    2009-01-01

    This study was designed to assess the association between pregnancy-related exposures to antibiotics recommended for use in the event of a bioterrorism attack and major congenital malformations. A retrospective cohort study included 30,049 infants from Tennessee Medicaid born between 1985–2000 identified from computerized state databases. Infants with fetal exposures to ciprofloxacin, azithromycin, doxycycline, and amoxicillin (antibiotics recommended for potential bioterrorism attacks) and e...

  8. Congenital pulmonary airway malformation with mucoepidermoid carcinoma: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Narayanappa Harini

    2012-01-01

    Full Text Available Congenital cystic adenomatoid malformations (CCAM are rare developmental anomalies of the lung characterized by cysts of varying sizes and/or adenomatoid proliferation. Type I CCAM, the most frequent subtype, is associated with an increased incidence of malignant transformation, principally bronchioloalveolar carcinoma, with a reported incidence of around 1%. We report the first case of mucoepidermoid carcinoma arising in a type 1 CCAM.

  9. 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)

  10. 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...

  11. CT diagnosis of isolated systemic supply to the lung; A congenital broncho-pulmonary vascular malformation

    Energy Technology Data Exchange (ETDEWEB)

    Mata, J.M.; Caceres, Jose (Hospital de la Santa Creu i Sant Pau J., Barcelona (Spain). Servicio de Radiodiagnostico); Lucaya, Xavier (Universitat Autonoma de Barcelona (Spain). Servicio de Radiodiagnostico de la Clinica Infantil de la C.S. Vall d' Hebron)

    Isolated systemic supply to the normal lung is a rare congenital anomaly, first described by Hurber in 1777. Many cases have since been published, diagnoses being made by necropsy, surgery, or more recently by angiography. However, only one case in the literature has been studied by CT and the description of the findings were schematic. The CT findings in two patients with this rare malformation are presented. In both cases CT provided sufficient data for the diagnosis. (author). 26 refs.; 2 figs.

  12. 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.

  13. 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...

  14. 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.

  15. [Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation].

    Science.gov (United States)

    Zhang, Yanli; Ren, Hongxia

    2016-01-25

    Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM. PMID:26797848

  16. 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)

  17. MULTIPLE CONGENITAL MALFORMATIONS OF FEMALE INTERNAL GENITALIA: ITS SURGICAL CORRECTION

    Directory of Open Access Journals (Sweden)

    Ritu

    2014-08-01

    Full Text Available BACKGROUND: Rare case of the patient having multiple developmental variations of mullerian duct: unicornuate uterus with non-communicating rudimentary horn, cervical agenesis and transverse vaginal septum with cryptomenorrhoea. AIMS: Restoration of menstrual function and restoration of reproductive function. METHODS AND MATERIAL: Patient was examined and then surgical repair of reproductiove organs was done. RESULTS AND CONCLUSIONS: Patients responded well in post-operative period. She started having normal menses without any complaints. Patients with cryptomenorrhea must be thoroughly evaluated and appropriate surgical correction of underlying congenital anamoly provides good results.

  18. 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.

  19. 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.

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

    International Nuclear Information System (INIS)

    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.)

  1. Urogenital Tract Abnormalities Associated with Congenital Anorectal Malformations

    Directory of Open Access Journals (Sweden)

    Sina Sadeghiyan

    2008-05-01

    Full Text Available Objective: Genitourinary anomalies in patients with imperforate anus are a frequent source of significant morbidity. Variability of reports on the incidence of associated anomalies with imperforate anus mandates investigation on this issue. Material & Methods: The case records and imaging studies of 105 patients who underwent surgery for imperforate anus over a 10-year period are retrospectively reviewed. Voiding cystouretherography, intra venous pyelography (IVP and ultrasound were performed in patients with intermediate or high level anorectal lesions. Findings: During 10 years, there were 48 boys (45.7% and 57 girls (54.3% with imperforate anus. Genitourinary anomalies were seen in 34 (48.6% patients with intermediate or high level anorectal lesions. Eighteen of them (52.9% were shown to have vesicouretral reflux, only 6 of them required surgical correction. Vesicoureteral reflux was the most prominent urologic anomaly; other anomalies such as ureteropelvic junction (UPJ stenosis, hydronephrosis, hypospadias, renal agenesis and undescended testis were seen in these series. Conclusion: Patients with anorectal malformations should be evaluated for urinary tract and spinal anomalies.

  2. Congenital malformations and genetic diseases in comic books.

    Science.gov (United States)

    Mégarbané, A; Adib, S M

    2003-01-01

    Medical syndromes have often been represented in fine arts, but rarely have clinical diagnoses been discussed in comic book characters. Since their first appearance in Europe in the middle of the 19th century and in America in 1895, comic books have been considered as "the 9th art". In many comic books, the appearance and/or the behavior of central or support characters are suggestive of already well-defined medical disorders. The representation of five particular groups or clinical features: mental retardation, abnormal stature, abnormal hair, obesity, and cranial malformations is discussed from mostly European comic series. Whether comic authors intended to describe specific clinical entities while drawing their characters or whether such situations appeared by mere luck, is open to debate. In many series from the first half of the 20th century characters with remarkable clinical features were also painted as psycho-social deviants. Such stereotypes are found much less frequently nowadays. Writers of comic books, realizing the major impact of their work especially in adolescent age groups, have increasingly been using their series to actually promote issues of equity and well being for physically or mentally impaired people. PMID:12725585

  3. 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.)

  4. 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.

  5. Evidence that Cache Valley virus induces congenital malformations in sheep.

    Science.gov (United States)

    Chung, S I; Livingston, C W; Edwards, J F; Crandell, R W; Shope, R E; Shelton, M J; Collisson, E W

    1990-02-01

    An outbreak of congenital abnormalities occurred in sheep at San Angelo, Texas, between December 1986 and February 1987. Of 360 lambs born, 19.2% had arthrogryposis or other musculo-skeletal problems and hydranencephaly (AGH), and the total neonatal loss was 25.6%. In 1987, all ewes that were tested with AGH lambs had antibody to Cache Valley virus (CVV), whereas 62% of the ewes with normal lambs had CVV-specific antibody. Pre-colostral serum samples from AGH lambs had neutralizing antibody to CVV. An increase in prevalence of CVV-specific antibody, from 5% during the spring of 1986 to 63.4% during the winter of 1987, occurred during a time that included the gestation of these affected lambs, as well as a period of increased rainfall. The isolation of a CVV-related strain from a sentinel sheep in October 1987 confirmed the continued presence of this virus in the pasture where this outbreak occurred and provided a recent field strain for future studies. PMID:2107620

  6. 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

  7. 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.

  8. 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.

  9. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Effects of Complex Vertebral Malformation on Fertility in Swedish Holstein Cattle

    Directory of Open Access Journals (Sweden)

    Stålhammar Hans

    2004-09-01

    Full Text Available Complex vertebral malformation (CVM is an autosomal recessive inherited defect in the Holstein breed. It causes intra-uterine mortality through the entire gestation period leading to repeat breeding and involuntary culling of cows and thereby economic losses. The defect was first reported in Denmark in 1999 and a direct DNA test for the defect has been available since February 2001. The aim of this study was to investigate if Holstein bulls heterozygous for the CVM gene had reduced reproductive performance, measured as non-return rate (NRR and in a daughter fertility index. All genotyped Swedish Holstein bulls born between 1995 and 1999 were included. Altogether 228 bulls were analysed, of which 53 bulls, i.e. 23%, were confirmed CVM carriers. A statistically significant difference between carriers and non-carriers in the relative breeding value for NRR was observed for 168 days NRR (101.1 ± 0.9 vs. 103.1 ± 0.6, p

  12. 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

  13. 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.

  14. 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.)

  15. 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.)

  16. Pulmonary interstitial glycogenosis within a discrete pulmonary lesion mimicking congenital pulmonary airway malformation

    Directory of Open Access Journals (Sweden)

    Robert L. Ricca

    2015-09-01

    Full Text Available Interstitial lung diseases (ILD are a heterogeneous group of pulmonary disorders that are relatively rare in the pediatric population. These diseases are characterized by impaired gas exchange and typically manifest with diffuse infiltrates on radiographs. Pulmonary interstitial glycogenosis (PIG has recently been identified as an ILD affecting neonates and infants that manifests diffusely throughout the lungs by imaging, has non-specific clinical features, and usually has a favorable outcome in the absence of significant comorbid conditions. We report two cases of PIG that presented with focal radiographic abnormalities, leading to erroneous diagnoses of congenital pulmonary airway malformations and pulmonary resection.

  17. 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; Hundborg, Heidi Holmager; Nohr, Ellen Aagaard; Sørensen, Henrik Toft; Nørgaard, Mette

    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...

  18. Pesticide consumption, central nervous system and cardiovascular congenital malformations in the South and Southeast region of Brazil

    OpenAIRE

    Cleber Cremonese; Carmen Freire; Ariana Camargo; Jaime Lima; Sergio Koifman; Armando Meyer

    2014-01-01

    Objectives: To investigate the association between per capita pesticide consumption and infant mortality rates from CNS and CVS congenital malformations in microregions in the South and Southeast Region of Brazil. Material and Methods: An ecological study was conducted using data on pesticide expenditure in 1985 and 1996, and deaths caused by CNS and CVS malformations in infants under 1 year old in 1986-1990 and 1997-2001, respectively. Per capita pesticide consumption and infant mortality ra...

  19. 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 ...

  20. [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

  1. 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

  2. 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.

  3. Clinical application of the amplatzer vascular plug in the embolization of vascular malformations associated with congenital heart diseasee

    International Nuclear Information System (INIS)

    Objective: To evaluate the clinical efficacy of percutaneous transcatheter embolization by using Amplatzer vascular plug (AVP) for the treatment of vascular malformations associated with congenital heart diseases. Methods: During the period of June 2006-June 2008, 12 patients with congenital heart disease accompanied by vascular malformations received transcatheter occlusion of the anomalous vessels with AVP. The vascular malformations included solitary or multiple saccular pulmonary arteriovenous malformation (n = 7), coronary artery fistula (n = 2) and major aortopulmonary collaterals concomitant with severe Fallot' s tetralogy (n = 3). All patients were screened with transthoracic echocardiography (TTE) and thoracic CT angiography (CTA), and all the diagnoses were confirmed by routine cardioangiography. Results: Transcatheter occlusion of vascular malformations with AVP was successfully accomplished in all 12 patients. An angiographic check immediately after the procedure showed that complete occlusion was obtained in all patients and no embolism,migration or residual shunt were seen. Sixteen anomalous vessels were occluded. The mean internal diameter of these vessels was (5.2 ± 1.9) mm,while the mean diameter of AVP used was (9.2 ± 2.4) mm. After the operation (mean 3 months), the follow-up echocardiography and/or thoracic CT angiography showed that in all patients the occlusion remained in satisfactory condition and no residual shunt was found. Conclusions: Percutaneous transcatheter closure of congenital vascular malformations with AVP is technically feasible and clinically effective, this treatment can markedly improve patient's living quality and it is well worth extending its clinical application. (authors)

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

    Directory of Open Access Journals (Sweden)

    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.

  5. Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Sing, T.M.Y.S.; Wong, K.P.; Young, N. [Westmead Hospital, Westmead, NSW, (Australia). Department of Radiaology; Le, S.D.V. [Bankstown-Lidcombe Hospital, Bankstown, NSW, (Australia). Department of Nuclear Medicine and Ultrasound

    1997-08-01

    Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors). 11 refs., 7 figs.

  6. 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.

  7. Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report

    International Nuclear Information System (INIS)

    Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors)

  8. 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

  9. Congenital heart malformations in Jutland, Denmark: a three year necropsy study in children aged 0-14 years. Epidemiology and classification according to sequential segmental analysis.

    OpenAIRE

    Vesterby, A; Nielsen, K.; Borg, L; Paulsen, S; Baandrup, U

    1987-01-01

    The use of sequential segmental analysis for describing congenital heart malformations was the method of assessment used in a prospective necropsy study covering Jutland, a well defined geographical and demographic area of Denmark. The study group was 1,154 children of whom 261 (22.6%) had a congenital heart malformation. The most common malformations were ductus arteriosus and ventricular septal defect and there were 77 cases in which connections between chambers or between chambers and grea...

  10. Congenital cystic adenomatoid malformations (CCAM) - prenatal MRI diagnosis: a case report

    International Nuclear Information System (INIS)

    Full text: Congenital Cystic Adenomatoid Malformation/CCAM (recently termed Congenital Pulmonary Airway Malformation/CPAM) is a rare lung lesion that is believed to result from a cessation of bronchiolar maturation with overgrowth of mesenchymal elements. The differential diagnosis of a mass in the fetal thorax includes CCAM/CPAM, congenital diaphragmatic hernia, and pulmonary sequestration. We present a case of CCAM/CPAM detected on prenatal ultrasound examination with prenatal magnetic resonance imaging (MRI) correlation. A multicystic lesion in the right hemithorax of the fetus was identified on ultrasound at 26th weeks of gestation which was slightly increasing in size on follow-up examinations. MRI was performed for further evaluation and selecting the appropriate management. On MRI the lesion was confined to the right middle lobe, consisting of a single large 3 cm cyst surrounded by multiple smaller cysts and compressed normal parenchyma of the upper and lower lobes of the right lung (type I, Stocker and al. classification). No mediastinal shift or other abnormalities to the contralateral lung were detected. No complications, such as hydrothorax or polyhydramnios were identified. Based on the MR findings postnatal surgical removal of the lung lesion was planned. Continuous weekly ultrasound follow-up examination was recommended. Improvements in magnetic resonance imaging (MRI) now permit diagnostic images of the fetus to be obtained. Ultrasound (US) remains vital in all aspects of fetal imaging but MR serves as a useful second line imaging test. MR imaging can provide excellent tissue contrast with more accurate analysis of the fetal anatomy and superior differentiation between the abnormalities and adjacent structures, thereby allowing early planning of pre- and postnatal management

  11. 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.

  12. 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)?

  13. 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.)

  14. 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.

  15. 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

  16. Does topical isotretinoin exposure during pregnancy increase the risk of congenital malformations?

    Directory of Open Access Journals (Sweden)

    ?smail Y?lmaz

    2015-06-01

    Full Text Available A 34-year-old patient learned that she was 7 weeks pregnant while she was using topical isotretinoin + erythromycin gel for acne treatment and referred to Izmir Katip Celebi University Teratology Information Service for information regarding the risk of teratogenicity. Systemic use of isotretinoin is well-known for its teratogenic effects and case reports suggesting possible teratogenic effects regarding topical exposure to retinoids in pregnancy exist in the literature. However, findings reported in four prospective controlled studies do not suggest an increased congenital malformation risk in case of inadvertent exposure during pregnancy. This manuscript aims to give a summary and evaluation of available data for counseling pregnant patients regarding the possible teratogenic risk of inadvertent topical isotretinoin exposure during pregnancy. It also aims to emphasize the importance of increasing communication between pregnant patients, clinicians and teratology information services for the benefit of mother and unborn.

  17. Congenital cystic adenomatoid malformation of the lung. Presentation of 16 cases.

    Science.gov (United States)

    Beluffi, G; Brokensha, C; Kozlowski, K; Lucaya, J; Masel, J; Morris, L; Rosso, R; Stronati, M; Thomson, R

    1989-05-01

    Congenital cystic adenomatoid malformation (CCAM) of the lung is one of the rarest causes of neonatal distress. The principal radiological sign of CCAM is an intrapulmonary mass of soft tissue density, containing cystic areas of different sizes and shapes. The mass usually compresses the rest of the affected lung and displaces the mediastinum and heart to the opposite side, compressing the lung which is often therefore hypoplastic. If CCAM is diagnosed in utero by ultrasound, the treatment of choice is surgery as soon as possible after birth, with good survival rates. Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described. PMID:2541476

  18. Cerebral Cavernous Malformation

    Science.gov (United States)

    ... Diversity Find People About NINDS NINDS Cerebral Cavernous Malformation Information Page Synonym(s): Cavernomas, Cavernous Angioma, Congenital Vascular Cavernous Malformations, Familial Hemangioma, Nevus Cavernosus, Vascular ...

  19. Screening for congenital malformations by ultrasonography in the general population of pregnant women: factors affecting the efficacy

    DEFF Research Database (Denmark)

    Tabor, Ann; Zdravkovic, Milica Branislava; Perslev, Annette; Møller, Lars Bo Krag; Pedersen, Beth Lilja

    2003-01-01

    . Fetuses with a prenatally undetected malformation were more often examined by more than one sonographer than fetuses without congenital malformations. Workload or monotony did not seem to affect the efficacy of screening. There was a trend towards a lower detection rate at midday and when most of the......OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were...... malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not...

  20. 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)

  1. 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

  2. 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

  3. Congenital malformations in sheep resulting from in utero inoculation of Cache Valley virus.

    Science.gov (United States)

    Chung, S I; Livingston, C W; Edwards, J F; Gauer, B B; Collisson, E W

    1990-10-01

    Serologic evidence indicated that an episode of congenital abnormalities in sheep was caused by Cache Valley virus (CVV), a bunyavirus indigenous to the United States. To determine the teratogenic potential of CVV in sheep, fetuses were infected in utero between 27 and 54 days of gestation with an isolate (CK-102) obtained in 1987 from a sentinel sheep in San Angelo, Texas. The dams of these fetuses were euthanatized between 28 and 75 days after inoculation, and the fetuses were examined for malformations. Twenty-eight of 34 fetuses had congenital abnormalities, including arthrogryposis, hydranencephaly, mummification, reabsorption, and oligohydroamnion. Virus was isolated from the allantoic fluid of 11 of 17 fetuses euthanatized at less than 70 days of gestation. The virus-positive fetuses, which were all negative for CVV-neutralizing antibody, had lesions ranging from none to severe arthrogryposis and hydranencephaly. Virus was not recovered from the allantoic fluid of fetuses after 76 days' gestation when CVV-specific antibody could be detected in 5 of 8 fetuses examined. The 2 fetuses infected on days 50 and 54 of gestation appeared normal and 1 had antibody to CVV. PMID:2122779

  4. 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

  5. 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

  6. 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.

  7. 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

  8. 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.

  9. 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.

  10. 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

  11. 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.

  12. [Congenital cystic adenomatoid malformation of the lung, intrauterine diagnostic and treatment. A case report and literature review].

    Science.gov (United States)

    Juárez-García, Luz; Lopez Rioja, Miguel de Jesús; Leis-Márquez, María Teresa; Machuca-Vaca, Alfredo; Erdmenger-Orellana, Julio

    2015-05-01

    The use of prenatal ultrasonography has improve the detection of fetal abnormalities, which affects the perception about the natural history and evolution of them, changing the management of the fetus and neonate. Today, it is possible to perform an early prenatal diagnosis, and be treated even intrauterine with high rates of success. Such is the case of Congenital Cystic Adenomatoid Malformation (CCAM), characterized by abnormal proliferation and dilatation of the terminal structures of the airway, generating multiple cysts of diferent sizes and locations. The CCAM can be asymptomatic until adulthood, but sometimes it is presented as an adverse perinatal outcome, manifested with ascites, hydrothorax, hydrops and hypoplasia of the affected lung. We report a case of a pregnant women, 32-year-old, diagnosed on the 18 week pregnancy by ultrasound Type 3 Congenital Cystic Adenomatoid Malformation disease. Treated with an intrauterine intervention percutaneous fetal sclerotherapy successfully. PMID:26233979

  13. 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...

  14. Percutaneous transcatheter embolization of extensive congenital arteriovenous malformation combined with aneurysms in the chest wall : a case report

    International Nuclear Information System (INIS)

    Congenital arteriovenous malformation (AVM) usually involves the head, extremities and internal organs, but is uncommon in the chest wall. It is, moreover, rarely combined with aneurysms. It can be cured by surgery, but is often difficult to treat. The purpose of this study is to report a case of extensive AVM involving the right lateral chest wall combined with multiple aneurysms, which was successfully treated by transcatheter embolization using several embolic materials. (author). 10 refs., 4 figs

  15. Antenatal and postnatal management of congenital cystic adenomatoid lung malformation diagnosed by ultrasound and Magnetic Resonance Imaging (MRI)

    OpenAIRE

    Susanne E. Gruessner; Hermann Hertel; Eva Bültmann; Charles O.A. Omwandho; Gerhard Alzen; Corinna Peter

    2012-01-01

    Purpose: Antenatal diagnosis of congenital cystic adenomatoid lung malformation (CCAM) is vital for disease surveillance and postnatal care. Ultrasonography (US) has been the imaging gold standard for antenatal CCAM assessment. However, one of the limitations of US is the “vanishing phenomenon” caused by isoechogenicity of CCAM tissue and adjacent normal lung parenchyma. Methods: Antenatal serial US were concurrently used with magnetic resonance imaging (MRI) to monitor macro- and microcystic...

  16. 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...

  17. Case-Control Study on Congenital Malformation Risk in the Petrochemical Area of Gela (Sicily-Italy)

    OpenAIRE

    Bianchi, Fabrizio; BIANCA, SEBASTIANO; Minichilli, Fabrizio; Pierini, Anna; Rial, Michela

    2007-01-01

    Objective: A study on congenital malformations (CMs) prevalence in newborns residing in the Gela municipality over 1991 to 2002 showed statistically significant excesses of total CMs, spina bifida, microcephaly, heart defects, hypospadias, if compared with the Italian EUROCAT registries (Bianchi, 2006). Many environmental and occupational risk factors reported as potentially associated with CMs have been documented in Gela and other similar industrial areas. Among toxic substances documented ...

  18. 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

  19. 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.

  20. [Novel possibilities for the rehabilitation of patients presenting with congenital external and middle ear malformations].

    Science.gov (United States)

    Mileshina, N A; Osipenkov, S S; Bakhshinian, V V; Tavartkiladze, G A

    2014-01-01

    The objective of the present study was to estimate the advantages of cochlear Baha BIA 400 abutments in the intraoperative and early postoperative periods. A total of 10 implantations of the systems with the use of hydroxyapatite bone cement were performed in 9 patients of different age. Stability of the implants and intensity of skin reactions were evaluated. The data obtained indicate that the use of cochlear Baha BIA 400 abutments significantly simplifies and shortens the surgical stage of rehabilitation producing a good cosmetic result. The use of the Osstell instrument made it possible to estimate stability of the implants intraoperatively and evaluate the effectiveness of osteointegration during the follow-up period. Analysis of the results of the study provided a basis on which to improve the quality and shorten duration of the rehabilitative treatment of the patients presenting with congenital external and middle ear malformations. Moreover, the data obtained can be used to develop practical recommendations for the further work in this area. PMID:24781169

  1. Cardiac and Renal Malformations in a Patient with Sepsis and Severe Congenital Neutropenia

    Directory of Open Access Journals (Sweden)

    Nima Rezaei

    2010-06-01

    Full Text Available Background:G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations. Case Presentation:In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/µl was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor (GCSF administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea, bronchiolitis, and urinary tract infection were other infectious complications, while hydronephrosis, atrial septal defect, and patent ductus arteriosus were other manifestations. Conclusion:Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients.

  2. Cardiac and Renal Malformations in a Patient with Sepsis and Severe Congenital Neutropenia

    Directory of Open Access Journals (Sweden)

    Aziz Eghbali

    2010-02-01

    Full Text Available Background:G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations. Case Presentation:In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/?l was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor (GCSF administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea, bronchiolitis, and urinary tract infection were other infectious complications, while hydronephrosis, atrial septal defect, and patent ductus arteriosus were other manifestations.Conclusion:Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients.

  3. 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

  4. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.

    Science.gov (United States)

    Tan, Huay L; Glen, Elise; Töpf, Ana; Hall, Darroch; O'Sullivan, John J; Sneddon, Linda; Wren, Christopher; Avery, Peter; Lewis, Richard J; ten Dijke, Peter; Arthur, Helen M; Goodship, Judith A; Keavney, Bernard D

    2012-04-01

    Congenital cardiovascular malformation (CVM) exhibits familial predisposition, but most of the specific genetic factors involved are unknown. Postulating that rare variants in genes in critical cardiac developmental pathways predispose to CVM, we systematically surveyed three genes of the bone morphogenetic protein (BMP) signaling pathway for novel variants. Exonic, splice site, and untranslated regions of BMPR1A, BMPR2, and SMAD6 genes were sequenced in 90 unrelated sporadic cases of CVM. One nonsynonymous variant (p.C484F) with predicted functional impact was found in the MAD homology 2 domain of SMAD6, an intracellular inhibitor of BMP signaling. Sequencing this domain in an additional 346 cases of CVM yielded two further nonsynonymous variants (p.P415L and p.A325T). Functional effects of all three SMAD6 mutations were investigated using BMP signaling assays in vitro. Two SMAD6 variants (p.C484F and p.P415L) had significantly (P < 0.05) lower activity than wild-type SMAD6 in inhibiting BMP signaling in a transcriptional reporter assay. In addition, the p.C484F variant had a significantly (P < 0.05) lower capacity to inhibit an osteogenic response to BMP signaling. We conclude that low-frequency deleterious variants in SMAD6 predispose to CVM. This is the first report of a human disease phenotype related to genetic variation in SMAD6. PMID:22275001

  5. 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.)

  6. Prevalence of Congenital Cardiovascular Malformations in Children of Human Immunodeficiency Virus-Infected Women: The Prospective P2C2 HIV Multicenter Study

    Science.gov (United States)

    Lai, Wyman W.; Lipshultz, Steven E.; Easley, Kirk A.; Starc, Thomas J.; Drant, Stacey E.; Bricker, J. Timothy; Colan, Steven D.; Moodie, Douglas S.; Sopko, George; Kaplan, Samuel

    2015-01-01

    Objectives The purpose of the study was to assess the effects of maternal HIV-1 (human immunodeficiency virus) infection and vertically transmitted HIV-1 infection on the prevalence of congenital cardiovascular malformations in children. Background In the United States, an estimated 7000 children are born to HIV-infected women annually. Previous limited reports have suggested an increase in the prevalence of congenital cardiovascular malformations in vertically transmitted HIV-infected children. Methods In a prospective longitudinal multicenter study, diagnostic echocardiograms were performed at 4–6-month intervals on two cohorts of children exposed to maternal HIV-1 infection: 1) a Neonatal Cohort of 90 HIV-infected, 449 HIV-uninfected and 19 HIV-indeterminate children; and 2) an Older HIV-Infected Cohort of 201 children with vertically transmitted HIV-1 infection recruited after 28 days of age. Results In the Neonatal Cohort, 36 lesions were seen in 36 patients, yielding an overall congenital cardiovascular malformation prevalence of 6.5% (36/558), with a 8.9% (8/90) prevalence in HIV-infected children and a 5.6% (25/449) prevalence in HIV-uninfected children. Two children (2/558, 0.4%) had cyanotic lesions. In the Older HIV-Infected Cohort, there was a congenital cardiovascular malformation prevalence of 7.5% (15/201). The distribution of lesions did not differ significantly between the groups. Conclusions There was no statistically significant difference in congenital cardiovascular malformation prevalence in HIV-infected versus HIV-uninfected children born to HIV-infected women. With the use of early screening echocardiography, rates of congenital cardiovascular malformations in both the HIV-infected and HIV-uninfected children were five- to ten-fold higher than rates reported in population-based epidemiologic studies but not higher than in normal populations similarly screened. Potentially important subclinical congenital cardiovascular malformations were detected. PMID:9822105

  7. The MRI study of the sphincter muscle complex in congenital anorectal malformations

    International Nuclear Information System (INIS)

    Objective: To evaluate the development of the sphincter muscle complex (SMC) and defecation function in pediatric patients with congenital anorectal malformations (ARM). Methods: A total of 64 children underwent MRI, among whom 39 were patients with ARM, and the others were patients without ARM undergoing MRI because of other dieases. The dimensions of the SMC in different planes were evaluated with different sequences and coils. The relationship between the SMC development and the defecation function was investigated. Results: In control group, the absolute value of SMC width was (3.63 ± 0.22)mm, which had a high correlation with age (r=0.998, P0.05). The SMCs in intermediate ARM patients [muscle index (MI)=0.47 ± 0.05] and low ARM patients (MI=0.49 ± 0.05) were well developed. The SMCs in a portion of patients with high ARM (MI=0.28 ± 0.06) were poorly developed, when MI≤0.18, anorectal contraction pressure was significantly lower (t=3.55, P0.18[(0.85 ± 0.20) vs (2.24 ± 1.02) kPa]. The length of anal canal with high-pressure[(10.88 ± 3.64) vs (20.26 ± 4.34)mm] was shorter (t= 5.18, P0.18, the anorectal angle was less than 90 degrees, and normal continent function was found in 21 of 23 cases (91%). Conclusion: MRI can be employed to evaluate the development of SMC in patients with ARM, MI was an objective criteria to evaluate the development of SMC. When MI≤0.18, maldevelopment of SMC will be highly suspected. (authors)

  8. The imaging manifestation of congenital cystic adenomatoid malformation of the lung in children

    International Nuclear Information System (INIS)

    Objective: To describe the imaging manifestation in 8 cases of congenital cystic adenomatoid malformation of the lung in children (CCAM) in order to improve the recognition. Methods: Seven males and 1 female were reported, and the mean age was 3 years 10 months. The complaints were cough, fever, and chest distress repeated for 4 days to 8 years. Chest films and CT scan were performed in all cases before operation and three of them were examined by high-resolution CT. All cases were confirmed by operation and pathology as CCAM. Results: (1) On chest films, 4 cases showed single or multiple large air cystic lesions (> 3 cm in diameter), one case only showed localized hazy and curl-like markings, and 3 cases showed honeycomb-like small cystic lesions (< 3 cm in diameter). All cases were complicated with emphysema on affected side. 6 cases showed pulmonary hernia of mediastinum. (2) On CT scan, each lung were involved in 4 cases, 2 cases showed large air cyst (almost 9 cm in diameter), 2 cases showed roundness thin-wall air cystic lesions (3.8-5.6 cm in diameter), and 4 cases showed multiple irregular small air cystic lesions (0.2-3.2 cm in diameter) and adenoid change. The cysts were filled with air but with small amount of liquid in only 3 cases. All lesions showed obvious space occupying sign. (3) The pathologic findings, the cyst was paraplasmic glandular or bronchiolar structures, cyst wall was lined with ciliated pseudo-stratified columnar epithelium in 3 cases and lined by cuboids to columnar epithelium in 5 cases. The cyst wall contained smooth muscle and elastic tissue. Cartilage plates were not present in all cases. Conclusion: Imaging examination is a reliable method in diagnosing CCAM. It can provide the diagnosis in location and quality. CT scan can improve the detection rate of CCAM

  9. A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report

    Directory of Open Access Journals (Sweden)

    Cakan Nedim

    2009-12-01

    Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

  10. 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

  11. BICORNUATE [BICORNIS, UNICOLLIS] UTERUS, A CONGENITAL MALFORMATION ASSOCIATED WITH PATHOLOGICAL LESIONS: A CLINICOPATHOLOGICAL STUDY OF 4 RARE CASES

    Directory of Open Access Journals (Sweden)

    Rajeshwari C

    2014-04-01

    Full Text Available : INTRODUCTION: Bicornuate uterus is a congenital malformation caused by dysgenesis and fusion defects having two uteri and one cervix [bicornis, unicollis]. METHOD: Among 446 hysterectomy specimens received between April 2010 to April 2013, there were four specimen of bicornuate uterus. OBSERVATION: In this study, along with bicornuate uterus, we observed other associated pathological conditions as follows, 1 Fibroids and adenomyosis, 2 Tubercular endometritis and bilateral tubercular salpingitis. 3 Non-communicating rudimentary horn with hematometra and 4 Endometriosis. CONCLUSION: As there is lot of debate on the symptomatology, in malformed uteri, associated other pathological conditions have to be kept in mind, which are treatable and can reduce the incidence of infertility and other complications.

  12. Pesticide consumption, central nervous system and cardiovascular congenital malformations in the South and Southeast region of Brazil

    Directory of Open Access Journals (Sweden)

    Cleber Cremonese

    2014-08-01

    Full Text Available Objectives: To investigate the association between per capita pesticide consumption and infant mortality rates from CNS and CVS congenital malformations in microregions in the South and Southeast Region of Brazil. Material and Methods: An ecological study was conducted using data on pesticide expenditure in 1985 and 1996, and deaths caused by CNS and CVS malformations in infants under 1 year old in 1986-1990 and 1997-2001, respectively. Per capita pesticide consumption and infant mortality rates were calculated for each microregion. Microregions were grouped according to quintiles of pesticide consumption, taking the first quintile as reference. The association between pesticide consumption and infant mortality was examined by calculating Spearman correlation coefficients (r and mortality rate ratios (RR, stratifying by gender and type of microregion (urban or rural. Results: Significant and positive correlations between per capita pesticide consumption and rates of mortality due to CNS and CVS defects were observed in rural but not urban microregions. In general, mortality RRs for the 2 types of malformations in rural microregions were significantly higher in each quintile of pesticide consumption compared to the lowest quintile in the 2 study periods, with elevations ranging between 10% and 30%. Likewise, mortality RRs in these microregions showed significant trends of increase across quintiles of pesticide consumption in both study periods. In urban areas, however, mortality RRs from both CNS and CVS malformations were weak and not statistically significant, and a trend of increase of mortality with increasing pesticide usage was not observed. Conclusions: The results show the relevance of pesticide exposure in rural areas with intense agricultural activity, suggesting that such prenatal exposures may be related with the occurrence of certain congenital defects.

  13. 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

  14. Congenital plaque-type glomuvenous malformations associated with fetal pleural effusion and ascites.

    Science.gov (United States)

    Goujon, Elisa; Cordoro, Kelly M; Barat, Muriel; Rousseau, Thierry; Brouillard, Pascal; Vikkula, Miikka; Frieden, Ilona J; Vabres, Pierre

    2011-01-01

    Glomuvenous malformations are hereditary vascular anomalies, usually without extracutaneous involvement. We report two cases of extensive thoracic plaque-type glomuvenous malformation in newborns who had previously been diagnosed in utero with pleural effusion and ascites, suggesting a pathogenic link between the two conditions. PMID:21133993

  15. Malformations of Cortical Development in Children with Congenital Cytomegalovirus Infection – A Study of Nine Children with Proven Congenital Cytomegalovirus Infection

    OpenAIRE

    Mejaški Bošnjak, Vlatka; ?akovi?, Ivana; ?uranovi?, Vlasta; Luji?, Lucija; Krakar, Goran; Marn, Borut

    2011-01-01

    Congenital cytomegalovirus (CMV) infection is the most common vertically transmitted disease with the rate of the infection ranging from 0.2 to 2.4% in newborn infants. Congenital CMV infection causes multiorgan affection, but the most severe and permanent sequelae are those affecting central nervous system such as mental retardation, cerebral palsy, sensorineural hearing loss, chorioretinitis and seizures as a result of direct interference of the virus with neurogenesis. The time of acquirin...

  16. Metal-based particles in human amniotic fluids of fetuses with normal karyotype and congenital malformation--a pilot study.

    Science.gov (United States)

    Barošová, H; Dvo?á?ková, J; Motyka, O; Kutláková, K Mamulová; Peikertová, P; Rak, J; Bielniková, H; Kukutschová, J

    2015-05-01

    This study explores the inorganic composition of amniotic fluid in healthy human fetuses and fetuses with congenital malformation with a special attention to presence of metal-based solid particles. Amniotic fluid originates from maternal blood and provides fetus mechanical protection and nutrients. In spite of this crucial role, the environmental impact on the composition of amniotic fluid remains poorly studied. The samples of human amniotic fluids were obtained by amniocentesis, including both healthy pregnancies and those with congenital malformations. The samples were analysed using several techniques, including Raman microspectroscopy, scanning electron microscopy with energy-dispersed spectrometry (SEM-EDS), Fourier transform infrared spectroscopy (FTIR) and X-ray diffraction (XRD) analysis. Several metal-based particles containing barium, titanium, iron, and other elements were detected by SEM-EDS and Raman microspectroscopy. XRD analysis detected only sodium chloride as the main component of all amniotic fluid samples. Infrared spectroscopy detected protein-like organic components. Majority of particles were in form of agglomerates up to tens of micrometres in size, consisting of mainly submicron particles. By statistical analysis (multiple correspondence analysis), it was observed that groups of healthy and diagnosed fetuses form two separate groups and therefore, qualitative differences in chemical composition may have distinct biological impact. Overall, our results suggest that metal-based nanosized pollutants penetrate into the amniotic fluid and may affect human fetuses. PMID:25561252

  17. 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.

  18. 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.)

  19. Tratamento cirúrgico das malformações pulmonares congênitas em pacientes pediátricos Surgical treatment of congenital lung malformations in pediatric patients

    Directory of Open Access Journals (Sweden)

    Hylas Paiva da Costa Ferreira

    2010-04-01

    Full Text Available OBJETIVO: Determinar as principais malformações congênitas pulmonares e os principais métodos diagnósticos utilizados, assim como as indicações de tratamento cirúrgico e os seus resultados em um serviço de referência de cirurgia torácica pediátrica. MÉTODOS: Foram revisados 52 prontuários de pacientes com diagnóstico anatomopatológico de malformações congênitas pulmonares e que foram submetidos à ressecção pulmonar entre janeiro de 1997 e dezembro de 2006. Os critérios de exclusão foram idade > 12 anos e dados clínicos incompletos. A amostra final foi composta de 35 pacientes. RESULTADOS: Nesta amostra, a média de idade foi de 31 meses, com predominância do sexo masculino (n = 21. Os achados anatomopatológicos foram malformação adenomatoide cística (n = 14, enfisema lobar congênito (n = 13, sequestro pulmonar (n = 8, e malformação arteriovenosa (n = 1. A ressecção mais comum foi a lobectomia inferior esquerda (25,71%, seguida por diferentes tipos de segmentectomia (22,85%, lobectomia superior esquerda (22,85%, lobectomia superior direita (14,28%, lobectomia inferior direita (8,57% e lobectomia média (5,71%. Dos 35 pacientes, 34 (97,14% foram submetidos à drenagem pleural fechada, com tempo médio de permanência do dreno torácico de 3,9 dias. Dez pacientes (28,5% apresentaram complicações pós-operatórias. Não houve óbitos nesta série. CONCLUSÕES: A ressecção pulmonar para o tratamento das malformações pulmonares é um procedimento seguro, apresentando baixa morbidade e nenhuma mortalidade em um serviço de referência para doenças pulmonares.OBJECTIVE: To determine the main congenital lung malformations treated and the principal diagnostic methods employed, as well as the indications for surgical treatment and the results obtained, at a referral facility for pediatric thoracic surgery. METHODS: We reviewed the medical charts of 52 patients anatomopathologically diagnosed with congenital lung malformations and who had been submitted to pulmonary resection between January of 1997 and December of 2006. Exclusion criteria were age > 12 years and incomplete clinical data. The final sample comprised 35 patients. RESULTS: In this sample, the mean age was 31 months, and there was a predominance of males (n = 21. The anatomopathological findings were cystic adenomatoid malformation (n = 14, congenital lobar emphysema (n = 13, pulmonary sequestration (n = 8 and arteriovenous malformation (n = 1. The most common type of lung resection was left lower lobectomy (in 25.71% followed by different types of segmentectomy (in 22.85%, left upper lobectomy (in 22.85%, right upper lobectomy (in 14.28%, right lower lobectomy (in 8.57% and middle lobectomy (in 5.71%. Of the 35 patients, 34 (97.14% were submitted to closed pleural drainage, with a mean duration of thoracic drainage of 3.9 days. Ten patients (28.5% presented with postoperative complications. There were no deaths in our sample. CONCLUSIONS: Pulmonary resection for the treatment of congenital lung malformations is a safe procedure, presenting low morbidity and no mortality at a referral facility for pediatric thoracic surgery.

  20. 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.

  1. Echocardiographic Assessment of the Pulmonary Venous Flow: An Indicator of Increased Pulmonary Flow in Congenital Cardiac Malformations

    Directory of Open Access Journals (Sweden)

    Rivera Ivan Romero

    2002-01-01

    Full Text Available OBJECTIVE: To identify the left inferior pulmonary vein as an indirect marker of increased pulmonary flow in congenital heart diseases.METHODS: We carried out a prospective consecutive study on 40 patients divided into 2 groups as follows: G1 - 20 patients diagnosed with congenital heart disease and increased pulmonary flow; G2 (control group - 20 patients who were either healthy or had congenital heart disease with decreased or normal pulmonary flow. We obtained the velocity-time integral of the left inferior pulmonary vein flow, excluding the "reverse A" wave, with pulsed Doppler echocardiography.RESULTS: In G1, 19 out of the 20 patients had well-identified dilation of the left inferior pulmonary vein. No G2 patient had dilation of the left inferior pulmonary vein. Dilation of the left inferior pulmonary vein in conditions of increased pulmonary flow had sensitivity of 95%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 95% (1 false-negative case. The integral of time and velocity of the pulmonary venous flow obtained with pulsed Doppler echocardiography was greater in the G1 patients (G1=25.0±4.6 cm versus G2=14.8±2.1 cm, p=0.0001.CONCLUSION: The identification of dilation of the left inferior pulmonary vein suggests the presence of congenital heart disease with increased pulmonary flow. This may be used as an indirect sign of increased flow, mainly in malformations of difficult diagnosis, such as atrial septal defects of the venous sinus or coronary sinus type.

  2. Living fetus without congenital malformation in a singleton partial hydatidiform molar pregnancy: a case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Babita Ramani

    2014-08-01

    Full Text Available A 36 years old lady gravida 2 para 1, came to our emergency ward at 9:30 pm on 12th June 2010 with complains of bleeding p/v for 2 hours with history of bleeding at 12 weeks. On examination she was anemic and uterus was 32 weeks size with good fetal heart sound. Bleeding was coming through os, on p/s examination. Ultrasonography showed a single live fetus of 1033 grams and thickened placenta (79 mm thickness showing multiple cystic lesion with peripheral hypervascularity, giving an impression of partial hydatidiform mole. She was managed conservatively and delivered a live preterm male child of 960 grams on 13th June 2010 evening without any congenital malformation. Placental weight was 1800 grams with multiple small vesicles. Now the boy is 4 years old and going to school with normal developmental milestone. [Int J Reprod Contracept Obstet Gynecol 2014; 3(4.000: 1130-1133

  3. 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.

  4. 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.

  5. 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.

  6. 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.)

  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. Massive hematuria due to a congenital renal arteriovenous malformation mimicking a renal pelvis tumor: a case report

    Directory of Open Access Journals (Sweden)

    Sountoulides P

    2008-05-01

    Full Text Available Abstract Introduction Congenital renal arteriovenous malformations (AVMs are very rare benign lesions. They are more common in women and rarely manifest in elderly people. In some cases they present with massive hematuria. Contemporary treatment consists of transcatheter selective arterial embolization which leads to resolution of the hematuria whilst preserving renal parenchyma. Case presentation A 72-year-old man, who was heavy smoker, presented with massive hematuria and flank pain. CT scan revealed a filling defect caused by a soft tissue mass in the renal pelvis, which initially led to the suspicion of a transitional cell carcinoma (TCC of the upper tract, in view of the patient's age and smoking habits. However a subsequent retrograde study could not depict any filling defect in the renal pelvis. Selective right renal arteriography confirmed the presence of a renal AVM by demonstrating abnormal arterial communication with a vein with early visualization of the venous system. At the same time successful selective transcatheter embolization of the lesion was performed. Conclusion This case highlights the importance of careful diagnostic work-up in the evaluation of upper tract hematuria. In the case presented, a congenital renal AVM proved to be the cause of massive upper tract hematuria and flank pain in spite of the initial evidence indicating the likely diagnosis of a renal pelvis tumor.

  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. Malformación congénita de la vía aérea pulmonar: Reporte de un caso adulto / Congenital pulmonary airway malformation: An adult case report

    Scientific Electronic Library Online (English)

    CARLOS, ÁLVAREZ Z; CÉSAR, CERDA C; CARMEN, CERDA A; BELÉN, SANHUEZA P.

    Full Text Available La malformación congénita de la vía aérea pulmonar (MCVAP), llamada también malformación congénita adenomatoidea quística que compromete al pulmón es una anomalía embrionaria. La MCVAP es de rara presentación en la infancia y es excepcional en los adultos. En este artículo comunicamos el caso de un [...] hombre adulto con MCVAP y presentamos una breve revisión sobre esta condición. Caso clínico: Hombre de 23 años de edad con varios episodios de neumonía y de síndrome bronquial obstructivo en su niñez. El paciente se quejaba de dolor torácico pleurítico, malestar general y fiebre. En el examen físico se encontró disminución del murmullo pulmonar en la parte inferior del hemitórax derecho, abundantes crepitaciones y matidez. La radiografía y la tomografia computada de tórax (TC) revelaron múltiples imágenes hidro-aéreas complejas en el pulmón derecho. Debido a la falta de respuesta al tratamiento médico, se practicó una lobectomía inferior derecha. La histopatología demostró una MCVAP tipo 1. Después de ser dado de alta el paciente presentó una fístula broncopleural, la cual fue tratada exitosamente con una segunda intervención quirúrgica. Tres años después de la cirugía el paciente está asintomático. Discusión: La MCVAP es una malformación congénita hamartomatosa muy poco frecuente. En adultos es excepcional. La técnica diagnóstica de elección es la TC de tórax. Considerando el alto potencial neoplásico de esta malformación, su tratamiento debe ser la resección quirúrgica, incluso si el paciente está asintomático. Abstract in english Congenital pulmonary airway malformation or CPAM (congenital cystic adenomatoid malformation) that involve the lung is an embryonic anomaly. CPAM is a rare condition in chilhood, and even more so in adulthood. In this article we report the case of a young adult man with CPAM and present a brief revi [...] ew about this condition. Case study: 23 years old man with several episodes of pneumonia and obstructive bronchial syndrome during his childhood. The patient complained of pleuritic chest pain, malaise and fever. On physical examination lung sound was diminished in the lower right zone of the chest, abundant coarse crackles were detected and there was dullness on percussion. Chest roentgenogram and computed tomography (CT) revealed a complex image of multiple cysts with air and fluid in the right lung. Because of the lack of response to medical treatment a right lower lobectomy was performed. Histopathology revealed a type 1 CPAM. After being discharged from the hospital the patient developed a broncho-pleural fistula, that was succesfully treated by a second surgical intervention. Three years after surgery the patient is free of symptoms. Discussion: CPAM is a rare congenital hamartomatous condition. This malformation in adults it is exceptional. Chest CT is the choice diagnostic technique. Considering the high neoplastic potential of this malformation, its treatment should be the surgical resection, even in asymptomatic patients.

  12. 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.

  13. 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...

  14. 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...

  15. 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.

  16. 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.

  17. 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

  18. 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)

  19. 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.

  20. 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...

  1. 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

  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. Frequency of congenital malformations and chromosomal disorders in Bacau and Vaslui counties (Romania)

    Indian Academy of Sciences (India)

    Cristina-Elena Popa; Gogu Ghiorghi??

    2015-12-01

    This paper presents the state of genetic health of the human populations in two Romanian counties, Bacau and Vaslui, as they are different in area, number of inhabitants, level of economic and social development, etc. The data presented in this paper is from the Public Health Directions of the two counties, reflecting the situation recorded during 2006–2013. In the 8 years study, 1894 cases of congenital and chromosomal disorders were recorded in the newborns from the populations in the two counties. The identified cases were distributed based on years, categories of disorders and sexes. The average frequency of congenital disorders in the two populations over the investigated period was about 1.65 in Bacau county and 1.83% in Vaslui counties. In the population of Bacau county, these disorders affect in the same number in both the sexes (49.62% female cases and 50.38% male cases), while in Vaslui, the male cases are more than the females (53.92 and 46.08%, respectively). The main congenital disorders observed were: cardiovascular system anomalies, musculoskeletal system, urogenital system, etc. During the investigation period, in the human population of Bacau county, 97 cases of newborns with chromosomal disorders were diagnosed (0.16% of the living newborns), while in Vaslui county there were 106 cases (0.26% of the living newborns). Among these disorders, the Down’s syndrome was the most frequent one, representing 83.5 and 85.8% of cases in the population of Bacau county, and Vaslui counties.

  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. Gastrointestinal malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen; Working Group, EUROCAT

    2007-01-01

    The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the study was 14 population-based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs...... five malformations, although not statistically significant for gastroschisis. There was little difference in median birthweight by GA for the pre- and postnatally diagnosed infants. The difference in GA at birth between prenatally and postnatally diagnosed infants with GIMs is enough to increase the...... risk of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital...

  6. 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.

  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. 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.

  9. 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.

  10. 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.

  11. 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.)

  12. 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 ...

  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. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  16. 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.

  17. [Correction of the congenital malformations of the front chest wall by the modelling technique of sternochondroplasty: technique and results on a series of 14 cases].

    Science.gov (United States)

    Duhamel, P; Brunel, C; Le Pimpec, F; Pons, F; Jancovici, R

    2003-04-01

    In the congenital malformations of the front chest wall showing depression or protrusion, the cardiorespiratory disorders are inconstant and often not linked with the distortion. On the other hand psychoaffective repercussions are major in adolescents and young adults justifying recourse to surgery with morphological and aesthetic aiming. The authors present the technique of modelling sternochondroplasty by raising with osteosynthesis by slide fastener-handle of Martin-Borrelly, applied to the correction of congenital malformation of the front chest wall in young adult, both of protrusion (pectus carinatum), of thoraxes in funnel (pectus excavatum) types or of mixed types (pectus arcuatum). This surgical replanning intervention is carried out by under-mammary way and aims at reestablishing a normal anatomy of the front chest wall. It leads to a genuine wide sternochondrocostal volet, which is stabilised by a specific, multipurpose, adaptable and reliable osteosynthesis equipment. The results obtained on a series of 14 cases are good or excellent in 86% of the cases and stable over time in the absence of major complications. A good cooperation of the patient is essential to obtain a good result in particular via the continuation of musculation exercises after assembly consolidation, possibly associated with remote mammary plastic surgery in the event of hypoplasia or of associated mammary agenesia. PMID:12801547

  18. 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.

  19. 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.)

  20. 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.

  1. 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...

  2. 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 ...

  3. Echocardiographic Assessment of the Pulmonary Venous Flow: An Indicator of Increased Pulmonary Flow in Congenital Cardiac Malformations

    OpenAIRE

    Ivan Romero Rivera; Valdir Ambrósio Moisés; Angelo Amato V. de Paola; Antonio Carlos Carvalho

    2002-01-01

    OBJECTIVE: To identify the left inferior pulmonary vein as an indirect marker of increased pulmonary flow in congenital heart diseases.METHODS: We carried out a prospective consecutive study on 40 patients divided into 2 groups as follows: G1 - 20 patients diagnosed with congenital heart disease and increased pulmonary flow; G2 (control group) - 20 patients who were either healthy or had congenital heart disease with decreased or normal pulmonary flow. We obtained the velocity-time integral o...

  4. 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.

  5. Incidência de malformações congênitas em crianças concebidas através de injeção intracitoplasmática de espermatozóides Incidence of congenital malformations in children conceived through intracytoplasmic sperm injection

    Directory of Open Access Journals (Sweden)

    Edilberto de Araújo Filho

    2006-02-01

    Full Text Available OBJETIVO: avaliar a incidência e tipos de malformações congênitas maiores (MCM em crianças concebidas por injeção intracitoplasmática de espermatozóides (ICSI e nascidas vivas. MÉTODOS: um total de 680 crianças nasceram vivas de 511 casais submetidos à ICSI no período de janeiro de 1999 a dezembro de 2002. A coleta de dados das crianças foi procedida por meio de questionário padronizado e exame clínico. Dos 511 casais, 366 foram contatados para amostragem de 371 gestações. Das 680 crianças nascidas vivas, 520 foram avaliadas, 250 delas (48,1% por meio de questionário e 270 (51,9% por questionário e exame físico. Duzentas e cinqüenta crianças foram de gestação única e 270 de gestação múltipla. Na análise das malformações congênitas foi empregada a 10ª Revisão da Classificação Internacional de Doenças. Nesse estudo foram analisadas apenas as MCM. A incidência de MCM foi comparada à da população geral obtida pelo Estudo Colaborativo Latino-Americano de Malformações Congênitas. A análise estatística foi feita usando o teste do chi2 (nível de significância p0,05, que teve 2,6% de incidência de MCM. As malformações mais freqüentes foram as de origem cardíaca (quatro isoladas e duas associadas, correspondendo a 40% do total. Os outros tipos de MCM foram: renal (três, defeito de fechamento do tubo neural (dois, defeito do crânio (um, lábio leporino (um, genital (um, síndrome de Down (associada à cardiopatia (dois e músculo-esquelética (um. Seis MCM ocorreram em crianças provenientes de gestações únicas e nove de gestações múltiplas. CONCLUSÃO: as crianças concebidas por ICSI e nascidas vivas apresentaram incidência de malformações congênitas maiores (2,9% próximo ao esperado para a população geral (2,6%. Entretanto, para estabelecer com precisão os riscos de MCM é necessária continuidade na avaliação das crianças concebidas por ICSI.PURPOSE: to evaluate the incidence and types of major congenital malformations (MCM in liveborn children conceived by intracytoplasmic sperm injection (ICSI. METHODS: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 680 liveborn, 520 had been evaluated, 250 of them (48.1% through questionnaire and 270 (51.9% through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the c² test (level of significance p0.05, which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated, corresponding to 40% of the total. The other types of MCM were: renal (three, neural tube (two, skull (one, cleft lip (one, genital (one, Down syndrome (associated with cardiac malformations (two, and musculoskeletal (one. Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. CONCLUSION: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9% near to the expected for the general population (2.6%. However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.

  6. Split Cord Malformations

    Directory of Open Access Journals (Sweden)

    Yurdal Gezercan

    2015-06-01

    Full Text Available Split cord malformations are rare form of occult spinal dysraphism in children. Split cord malformations are characterized by septum that cleaves the spinal canal in sagittal plane within the single or duplicated thecal sac. Although their precise incidence is unknown, split cord malformations are exceedingly rare and represent %3.8-5 of all congenital spinal anomalies. Characteristic neurological, urological, orthopedic clinical manifestations are variable and asymptomatic course is possible. Earlier diagnosis and surgical intervention for split cord malformations is associated with better long-term fuctional outcome. For this reason, diagnostic imaging is indicated for children with associated cutaneous and orthopedic signs. Additional congenital anomalies usually to accompany the split cord malformations. Earlier diagnosis, meticuolus surgical therapy and interdisciplinary careful evaluation and follow-up should be made for good prognosis. [Cukurova Med J 2015; 40(2.000: 199-207

  7. 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

  8. 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.

  9. Antenatal exposure to doxylamine succinate and dicyclomine hydrochloride (Benedectin) in relation to congenital malformations, perinatal mortality rate, birth weight, and intelligence quotient score.

    Science.gov (United States)

    Shapiro, S; Heinonen, O P; Siskind, V; Kaufman, D W; Monson, R R; Slone, D

    1977-07-01

    In a prospective cohort study of 20, 282 gravidas and their offspring, congenital malformation rates were similar in the children of over 1,000 women exposed and those not exposed to two components of Bendectin (doxylamine succinate and dicyclomine hydrochloride) during the first four lunar months of pregnancy. In a cohort reduced to 41,337 mother-child pairs for technical reasons, mean birth weight and perinatal mortality rates were similar according to exposure or nonexposure to either drug, as were intelligence quotient scores measured at four years of age in 28,358 of the children. Control of potential confounding factors with a variety of multivariate techniques did not materially alter these findings. PMID:879205

  10. Frequency and structure of congenital malformations of development as markers of teratogen and mutagen radiation effects in a populations of a diverse radiation risk

    International Nuclear Information System (INIS)

    The principal task of this study is consideration of possible mutagenic and teratogenic effects of ionizing radiation on the dynamics, frequency and structure of congenital malformations of development (CMD) of newborns in rural populations of a diverse radiation risk. Analysis of dynamics of CMD spatial-temporal performances reveals the steady temporal trend to their growth in the posterity of irradiated persons and territorial build up of CMD frequency in populations geographically close to the Semipalatinsk test site. It is determined the high correlation frequency relation of CMD separate forms with population effective radiation dose (r=0.72-0.81) and considerable exposure of main population-genetic indexes (r=0.52-0.89). It is revealed population mutagenic and teratogenic effects of prolonged ionizing radiation effect on the frequency of germinal chromosomal and genome mutation in population of extremely high and maximal radiation risk

  11. 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.

  12. Análisis de las malformaciones congénitas detectadas por el programa alfafetoproteína-ultrasonido genético / Analysis of the congenital malformations detected by the alpha-fetoprotein-genetic ultrasound program

    Scientific Electronic Library Online (English)

    Aicha Julia, Llamos Paneque; Arianne, Llamos Paneque; Alicia, Martínez de Santelises Cuervo; Zaymar L., Powell Castro; Eldys, Pérez Olivera.

    2007-03-01

    Full Text Available La alfafetoproteína es una glicoproteína específica del plasma fetal, cuya determinación en suero materno se realiza entre las 15 y 19 semanas de gestación. Para conocer el comportamiento del programa alfafetoproteína-ultrasonido genético en el municipio 10 de Octubre se realizó esta investigación. [...] En ella se encontró que 862 gestantes presentaron alfafetoproteína elevada en suero materno en el período analizado, y las principales causas encontradas dependientes de la madre fueron: el error en la fecha de última menstruación, seguida de la amenaza de aborto; y las malformaciones congénitas más frecuentemente encontradas fueron los defectos de cierre del tubo neural, seguidos de las malformaciones cardiovasculares. Abstract in english The alpha-fetoprotein is a specific glycoprotein of the fetal plasma, whose determination in maternal serum is performed from the 15th to the 19th week of gestation. This research was conducted to know the behavior of the alpha-fetoprotein-genetic ultrasound program in “10 de Octubre” municipality. [...] It was found that 108 pregnant women presented elevated alpha-fetoprotein in maternal serum during the analyzed period. The main causes depending on the mother were: error in the date of the last menstruation and threatened abortion. The most frequent congenital malformations were the defects of the neural tube closure, and the cardiovascular malformations.

  13. 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.

  14. 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.

  15. 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...

  16. 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

  17. 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

  18. 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.

  19. Evaluation of a model focusing on computer-based and individualized care by face-to-face psycho-education for adults with congenitally malformed hearts: a randomized controlled trial

    OpenAIRE

    Rönning, Helén; Nielsen, Niels-Erik; Swahn, Eva; Strömberg, Anna

    2014-01-01

    Objective: Evaluate the effects of a psycho-educational model for follow-up in adults with congenitally malformed hearts. Methods: The study had a randomized controlled design. Usual care was compared with computer-based and individualized care by face-to-face psycho-education by a multidisciplinary team. Knowledge and perceived control regarding the heart condition, symptoms of anxiety and depression was analysed at baseline, 3 and 12-months. Results: The 114 participants (control group n=58...

  20. 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

  1. Unruptured congenital aneurysm of the left sinus of Valsalva in an adult with complex left heart malformations

    OpenAIRE

    Hakami, A; Stiller, B.; Hetzer, R

    2003-01-01

    A 26 year old man who presented with the first signs of right heart failure was found to have a large congenital aneurysm of the aortic sinus of Valsalva and of the left coronary sinus. These were combined with left heart anomalies in the form of a bicuspid aortic valve, a rare variant of a persistent left superior vena cava with blood flow from the left atrium through the brachiocephalic vein into the superior vena cava and a kink in the aortic arch. An aortic coarctation had been corrected ...

  2. 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.)

  3. 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.

  4. Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22.

    Science.gov (United States)

    Melis, Daniela; Genesio, Rita; Cappuccio, Gerarda; MariaGinocchio, Virginia; Casa, Roberto Della; Menna, Giuseppe; Buffardi, Salvatore; Poggi, Vincenzo; Leszle, Anna; Imperati, Floriana; Carella, Massimo; Izzo, Antonella; Del Giudice, Ennio; Nitsch, Lucio; Andria, Generoso

    2011-07-01

    The region 21q22 is considered crucial for the pathogenesis of both Down syndrome (DS) and the partial monosomy 21q syndrome. Haploinsufficiency of the RUNX-1 gene, mapping at 21q22 is responsible for a platelet disorder and causes predisposition to myelodysplastic syndrome (MDS). We describe a 3-year-old girl with mental retardation, congenital heart malformation, and subtle dysmorphic facial features. The patient developed thrombocytopenia when she was 2 years old. Bone marrow smear led to the diagnosis of myelodysplasia. Prenatal karyotyping had shown chromosome 21 pericentric inversion. Postnatally the array-CGH revealed duplication at bands 21q11.2-21q21.1 and a simultaneous deletion involving the region 21q22.13-21q22.3. RUNX-1 mRNA levels analyzed in patient's skin fibroblasts were reduced. In this child the monosomy of the region 21q22 likely had the main role in determining the phenotype. Although the RUNX-1 gene is localized outside the deleted region, we speculate that RUNX-1 reduced expression, is probably due to the deletion of regulatory factors and caused the hematologic disorder in the patient. The present report underlines also the importance of array-CGH in characterizing patients with a complex phenotype. PMID:21671372

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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.

  10. 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.

  11. Congenital anomalies of kidney and upper urinary tract in children with congenital hypothyroidism; a case-control study

    OpenAIRE

    Yousefichaijan, Parsa; Dorreh, Fatemeh; Rafeie, Mohammad; Sharafkhah, Mojtaba; Safi, Fatemeh; Amiri, Mohammad; Ebrahimimonfared, Mohsen

    2015-01-01

    Introduction: Congenital hypothyroidism (CH) may be significantly associated with congenital malformations. However, there is little evidence on the relationship between renal and urinary tract anomalies and CH.

  12. 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.

  13. 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.

  14. 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.

  15. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

    Science.gov (United States)

    Reijnders, Margot R F; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny M A; Veenstra-Knol, Hermine E; Anderlid, Britt-Marie M; Wood, Stephen A; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M; Vreeburg, Maaike; Hobson, Emma; Sutton, V Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske

    2016-02-01

    Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Four females from our cohort were identified by targeted genetic testing because their phenotype was suggestive for USP9X mutations. In several females, pigment changes along Blaschko lines and body asymmetry were observed, which is probably related to differential (escape from) X-inactivation between tissues. Expression studies on both mRNA and protein level in affected-female-derived fibroblasts showed significant reduction of USP9X level, confirming the loss-of-function effect of the identified mutations. Given that some features of affected females are also reported in known ciliopathy syndromes, we examined the role of USP9X in the primary cilium and found that endogenous USP9X localizes along the length of the ciliary axoneme, indicating that its loss of function could indeed disrupt cilium-regulated processes. Absence of dysregulated ciliary parameters in affected female-derived fibroblasts, however, points toward spatiotemporal specificity of ciliary USP9X (dys-)function. PMID:26833328

  16. 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.

  17. 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.

  18. Functional characterization of the vertebrate primary ureter: Structure and ion transport mechanisms of the pronephric duct in axolotl larvae (Amphibia)

    DEFF Research Database (Denmark)

    Haugan, Birgitte M; Halberg, Kenneth Agerlin; Jespersen, Åse; Prehn, Lea R; Møbjerg, Nadja

    2010-01-01

    layered epithelium consisting of one cell type comparable to the principal cell of the renal collecting duct system. The cells are characterized by a prominent basolateral labyrinth and a relatively smooth apical surface with one central cilium. Cellular impalements demonstrate the presence of apical Na...... collecting duct system, which provides a model of cell structure and basic mechanisms for ion transport. Such information may be important in understanding the evolution of vertebrate kidney systems and human diseases associated with congenital malformations....

  19. 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

  20. 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.

  1. 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.

  2. Congenital Anomalies in Infant with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2012-09-01

    Full Text Available bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinicof Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life.Results: A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males were recruited during the period between May 2006-2010. Overall, 30 (20% infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1% had congenital cardiac anomalies such as: ASD (n=3, VSD (n=2, PS (n =1, PDA (n=1. Three children (2.6% had developmental displasia of the hip (n=3.Conclusion: The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies.

  3. 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 ...

  4. Supernumerary nostril: Congenital adrenal hyperplasia with a rare congenital anomaly

    OpenAIRE

    Ciloglu, Sinem; Duran, Alpay; Buyukdogan, Hasan; Yigit, Ahmet K.

    2014-01-01

    Multiple or supernumerary nostril is a rare congenital anomaly with unknown etiology. The first case was reported by Lindsay as bilateral supernumerary nostrils. Supernumerary nostril cases are mostly unilateral and isolated. They are also reported with other congenital malformations like facial clefts and congenital anomalies like congenital auricular hypoplasia, congenital cataracts, eusophageal atresia and patent ductus arteriosus. Here, we report a case of supernumerary nostril with conge...

  5. 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

  6. Genetic analysis of malformations causing perinatal mortality.

    OpenAIRE

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

    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.

  7. 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

  8. The Microcephaly-Capillary Malformation Syndrome

    OpenAIRE

    Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C; Lind, Anne C.; Dobyns, William B.

    2011-01-01

    We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome.

  9. 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.

  10. 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...

  11. Socioeconomic inequalities in risk of congenital anomaly

    OpenAIRE

    Vrijheid, M; DOLK, H; STONE, D.; Abramsky, L; Alberman, E; Scott, J.

    2000-01-01

    AIMS—To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups.?METHODS—A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk near hazardous waste landfill sites. As a measure of socioeconomic status, cases ...

  12. Hemangiomas and Vascular Malformations: Current Theory and Management

    OpenAIRE

    Friedman, Adva B; Richter, Gresham T.

    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...

  13. Congenital absence of the portal vein in a child with Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

    2006-06-15

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  14. 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%.

  15. 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

  16. 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

  17. Os profissionais de Enfermagem diante do nascimento da criança com malformação congênita Los profesionales de Enfermería en el nacimiento de un niño con malformación congénita Nursing professionals before of the birth of a child with congenital malformation

    Directory of Open Access Journals (Sweden)

    Iêda Maria Ávila Vargas Dias

    2007-03-01

    Full Text Available Estudo de natureza qualitativa utilizou o Método História de Vida e teve por objeto de estudo a percepção da equipe de enfermagem de sua experiência em atuar no nascimento de uma criança portadora de malformação congênita. Os resultados permitiram a construção de três categorias temáticas: a percepção da equipe de enfermagem ao assistir o nascimento de uma criança com malformação congênita; as estratégias empregadas pela equipe de enfermagem; e os fatores que influenciam a atuação da equipe. O estudo evidenciou que a experiência de atuar no nascimento de criança malformada é percebida tanto como uma experiência prazerosa e gratificante quanto como uma experiência estressante e incômoda. A percepção dessa experiência é influenciada pela história de vida do indivíduo; processo de formação do profissional; tempo de atuação e suporte institucional em relação aos aspectos técnicos, científicos e emocionais.Estudio de naturaleza cualitativa que utilizó el Método Historia de Vida y tuvo por objeto de estudio la percepción del equipo de enfermería a través de la experiencia en actuar al nacimiento de un niño portador de malformación congénita. Los resultados permitieron la construcción de tres categorías temáticas: La percepción del equipo de enfermería al asistir el nacimiento de un niño con malformación congénita; Las estrategias empleadas por el equipo de enfermería; y los factores que influencian la actuación del equipo. El estudio evidenció que la experiencia de actuar en el nacimiento de un niño malformado es percibida tanto como una experiencia que da placer y que gratifica, así como una experiencia estresante e incómoda. La percepción de esa experiencia es influenciada por la historia de vida del individuo; proceso de formación del profesional; tiempo de actuación y soporte institucional en relación a los aspectos técnicos, científicos y emocionales.Study of qualitative nature that used the History of Life Method and had as study subject the perception of the nursing staff about the experience acting in a child's birth with congenital malformation. The result allowed the construction of three thematic categories: the perception of the nursing staff when attending a child's birth with congenital malformation; the strategies used by the nursing team; and the factors that infuse on the performance of the team. The study evidenced that the experience of acting in malformed child's birth is noticed as much a pleased and gratifying experience, as a stressful and uncomfortable experience. The perception of that experience is influenced by the history of the individual's life; process of the professional's formation; time of performance and institutional support, concerning to the relation to the technical aspects, scientific and emotional ones.

  18. 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.

  19. Hypertension as a Presentation of Bilateral Intrarenal Arateriovenous Malformation

    Directory of Open Access Journals (Sweden)

    El-Lozi Mohamed

    1999-01-01

    Full Text Available Congenital arteriovenous malformations are rare lesions of the kidneys. The first case of bilateral renal arteriovenous malformations was described in 1987. A case of extensive bilateral intrarenal arterivenous malformations presented to us as a case of hypertension. Renal angiography confirmed the diagnosis. Magnetic resonance angiography ruled out these malformations in cerebral circulation, and enhanced abdominal CT scan was normal. The blood pressure of the patient was controlled by medical therapy only.

  20. 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.

  1. Congenital malformations of the supratentorial brain. Pt. 1. Disorders of cortical development; Kongenitale Malformationen des Grosshirns. Teil 1: Entwicklungsstoerungen des Kortex

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany); Institut fuer klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Marchioninistrasse 15, 81377, Muenchen (Germany); Rummeny, C.; Reiser, M.F. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany)

    2003-11-01

    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.) [German] Entwicklungsstoerungen des Kortex werden in der Regel eingeteilt in Stoerungen der zellulaeren Proliferation und Apoptose, der neuronalen Migration und der kortikalen Organisation. Basierend auf neueren molekularbiologischen und histopathologischen Erkenntnissen wurde vor kurzem eine modifizierte Klassifikation eingefuehrt. Zu den Stoerungen der neuronalen und glialen Proliferation und Apoptose werden nun die Mikrolissenzephalie und andere Formen der Mikrozephalie, die Megalenzephalien, die kortikalen Hamartome der tuberoesen Sklerose, die kortikalen Dysplasien mit Ballonzellen und die Hemimegalenzephalie gezaehlt. Zu den neuronalen Migrationsstoerungen rechnet man das Spektrum der Lissenzephalien, einschliesslich der bandfoermigen Heterotopien, die Pflastersteinlissenzephalien sowie die Gruppe der Heterotopien. Unter Organisationsstoerungen des Kortex subsumiert man den Komplex aus Polymikrogyrie und Schizenzephalie sowie die kortikalen Dysplasien ohne Ballonzellen. Hoch aufloesende magnetresonanztomographische Untersuchungen erlauben in zunehmendem Masse einen Nachweis der kortikalen Entwicklungsstoerungen. Dieser Artikel soll die MR-tomographischen Charakteristika und relevanten klinischen Symptome der Entwicklungsstoerungen des Kortex illustrieren. (orig.)

  2. Malformación congénita de la vía aérea pulmonar: Reporte de un caso adulto Congenital pulmonary airway malformation: An adult case report

    Directory of Open Access Journals (Sweden)

    CARLOS ÁLVAREZ Z

    2009-01-01

    Full Text Available La malformación congénita de la vía aérea pulmonar (MCVAP, llamada también malformación congénita adenomatoidea quística que compromete al pulmón es una anomalía embrionaria. La MCVAP es de rara presentación en la infancia y es excepcional en los adultos. En este artículo comunicamos el caso de un hombre adulto con MCVAP y presentamos una breve revisión sobre esta condición. Caso clínico: Hombre de 23 años de edad con varios episodios de neumonía y de síndrome bronquial obstructivo en su niñez. El paciente se quejaba de dolor torácico pleurítico, malestar general y fiebre. En el examen físico se encontró disminución del murmullo pulmonar en la parte inferior del hemitórax derecho, abundantes crepitaciones y matidez. La radiografía y la tomografia computada de tórax (TC revelaron múltiples imágenes hidro-aéreas complejas en el pulmón derecho. Debido a la falta de respuesta al tratamiento médico, se practicó una lobectomía inferior derecha. La histopatología demostró una MCVAP tipo 1. Después de ser dado de alta el paciente presentó una fístula broncopleural, la cual fue tratada exitosamente con una segunda intervención quirúrgica. Tres años después de la cirugía el paciente está asintomático. Discusión: La MCVAP es una malformación congénita hamartomatosa muy poco frecuente. En adultos es excepcional. La técnica diagnóstica de elección es la TC de tórax. Considerando el alto potencial neoplásico de esta malformación, su tratamiento debe ser la resección quirúrgica, incluso si el paciente está asintomático.Congenital pulmonary airway malformation or CPAM (congenital cystic adenomatoid malformation that involve the lung is an embryonic anomaly. CPAM is a rare condition in chilhood, and even more so in adulthood. In this article we report the case of a young adult man with CPAM and present a brief review about this condition. Case study: 23 years old man with several episodes of pneumonia and obstructive bronchial syndrome during his childhood. The patient complained of pleuritic chest pain, malaise and fever. On physical examination lung sound was diminished in the lower right zone of the chest, abundant coarse crackles were detected and there was dullness on percussion. Chest roentgenogram and computed tomography (CT revealed a complex image of multiple cysts with air and fluid in the right lung. Because of the lack of response to medical treatment a right lower lobectomy was performed. Histopathology revealed a type 1 CPAM. After being discharged from the hospital the patient developed a broncho-pleural fistula, that was succesfully treated by a second surgical intervention. Three years after surgery the patient is free of symptoms. Discussion: CPAM is a rare congenital hamartomatous condition. This malformation in adults it is exceptional. Chest CT is the choice diagnostic technique. Considering the high neoplastic potential of this malformation, its treatment should be the surgical resection, even in asymptomatic patients.

  3. Anorectal malformations in children

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    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.

  4. Anorectal malformations in neonates

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    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.

  5. 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.)

  6. MR imaging of anorectal malformations and associated anomalies

    International Nuclear Information System (INIS)

    Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

  7. Congenital absence of the portal vein in a boy

    International Nuclear Information System (INIS)

    Congenital absence of the portal vein (CAPV) is a malformation that is generally thought to be limited to females. We encountered an 11-year-old boy with this malformation. In 17 previously reported cases of CAPV, 2 were male. Three male patients, including our case, were Abernethy type Ib malformation. They had no associated liver tumour and two had no additional congenital abnormality. Conversely, 13 of the 15 female patients had congenital abnormalities and 6 had liver mass lesions. (orig.)

  8. 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.

  9. 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.)

  10. 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).

  11. 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.

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

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    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.

  13. Obstetric outcomes in women with mullerian duct malformations

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    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

  14. 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.

  15. Successful percutaneous coil occlusion of a large pulmonary arteriovenous malformation.

    Science.gov (United States)

    Jameel, Al-Ata; Arfi, Amin Muhammed; Ayman, M S; Nasser, Mahdi; Amjad, Kouatli; Iskandar, Al-Githmi

    2004-11-01

    Pulmonary arteriovenous malformation is one of the rarest congenital anomalies of cardiovascular system. We present a case of 30-year-old female with a large pulmonary arteriovenous malformation (PAVM) arising from the right lower pulmonary artery and draining to the left atrium. She underwent successful embolization using three detachable Cook coils. PMID:15530285

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

    OpenAIRE

    Wit, Marie Claire

    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 structural abn...

  17. 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...

  18. 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...

  19. Cavernous malformations

    International Nuclear Information System (INIS)

    Cavernomas of the CNS may involve brain parenchyma as well as the spinal cord and belong to those cerebrovascular malformations that have no arteriovenous shunt and thus are generally angiographically occult. Contrary to computed tomography (CT), which is generally suited to reveal calcifications or acute bleeding, magnetic resonance imaging (MRI) enables detection of even small cavernomas. A frequently associated venous anomaly is helpful for correct diagnosis. (orig.)

  20. 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

  1. A CASE REPORT ON UTERINE AV MALFORMATION IN LOWER UTERINE SEGMENT PLACENTAL IMPLANTATION

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    Hima

    2014-02-01

    Full Text Available Uterine Arterio - venous malformations (AVM are rare and potentially life threatening condition. AV malformations may be congenital or acquired. We report a case of acquired uterine AV malformation at the placental implantation site in the lower uterine segment which complicated the diagnosis

  2. Dural arteriovenous malformations

    International Nuclear Information System (INIS)

    The management of arteriovenous malformations confined exclusively to the dura and its duplications (DAVMs) is a challenge. The problems of diagnosis and the possible methods of treatment are discussed on the basis of 23 personal cases. Selective and superselective angiography for the detection of any multipedicular supply from separate arterial systems has proved essential before rational treatment can be instituted. Usually it is not possible to cure DAVMs by embolization alone: the approach now used for the main feeders arising from branches of the internal carotid and vertebral arteries is inadequate. However, it is usually possible to reduce the volume of the shunt flow and the pressure in the draining sinuses. Frequently the success is only temporary and a combined surgical and intravascular procedure is later necessary. In isolated cases, inoperable DAVMs can be transformed to operable ones by first performing embolization. (orig.)

  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. 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. 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.)

  6. 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

  7. 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...

  8. Reconstruction of middle ear malformations

    Directory of Open Access Journals (Sweden)

    Schwager, Konrad

    2007-01-01

    Full Text Available Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients.

  9. Human malformations induced by environmental noxae

    International Nuclear Information System (INIS)

    The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals. (MG)

  10. Interventional treatment of pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    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...

  11. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases

    Science.gov (United States)

    2015-01-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  12. 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.

  13. 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

  14. 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.

  15. 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; Bonizzoni, Erminio; Craig, John; Lindhout, Dick; Sabers, Anne; Perucca, Emilio; Vajda, Frank

    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....

  16. 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.)

  17. 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.)

  18. [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

  19. Follicular atrophoderma in association with congenital pseudarthrosis of the tibia.

    OpenAIRE

    Perkins, W.; Webb, D W; White, J. E.

    1995-01-01

    Follicular atrophoderma has always been associated with other congenital malformations including, Conradi-Hünermann syndrome, Bazex's syndrome and keratosis palmaris et plantaris dissipata. Congenital pseudarthrosis of the tibia has usually been associated with neurofibromatosis. We report a case of follicular atrophoderma in association with congenital pseudarthrosis of the tibia: a previously unreported association with, in our case, a good outcome for the pseudarthrosis.

  20. Congenital malformations of uterus and vagina

    International Nuclear Information System (INIS)

    The radiographic findings according to the classification of Buttram and Gibbons are described for HSG, ultrasound and MRI. The advantages and limitations of each method are discussed, and finally an algorithm for imaging is recommended. (orig.)

  1. Radiation Induced Congenital Malformations During Major Organogenesis

    International Nuclear Information System (INIS)

    Pregnant albino rats were irradiated of with Cobalt-60 gamma rays on twelfth day of gestation (corresponding to major organogenesis), with 0.5, 1, 2 and 3 Gy.The changes observed at full term included numbers of absorption sites and fetuses. Measurements of fetal size, weight, lateral length, girth, tail length and antroposterior and lateral diameters of skull. Results revealed that number of absorption sites significantly increased with the dose of 3 Gy and the number of litters showed significant decrease with doses of 2 and 3 Gy. Fetal measurements were significantly decreased with 2 and 3 Gy. This reflects high radiosensitivity of the embryo to radiation particularly during stage of organogenesis

  2. Congenital cystic adenomatoid malformation of the lung

    International Nuclear Information System (INIS)

    Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described. (orig./MG)

  3. 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 ...

  4. 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.

  5. 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.

  6. Morbidity rate due to renal malformations in patients from Las Tunas province

    Directory of Open Access Journals (Sweden)

    Silvio Laffita Estévez

    2015-09-01

    Full Text Available Background: The urogenital congenital malformations represent the first place within the genetic malformations in the province of Las Tunas.Objective: To characterize the renal congenital malformations in pediatric patients of the herein mentioned province, from 2010 to 2014.Methods: A descriptive study was carried out with 283 paediatric patients with renal and urinary tract congenital malformation, in the province and period herein stated. The variables included: sex, clinical manifestations, more frequent malformations, which of them needed surgical treatment, the positive results of the radiological studies, and the malformations that developed into chronic renal failure. The data were analyzed according to descriptive statistics.Results: The male sex represented a 63,96 %. A 57,95 % of the children were asymptomatic. Within the congenital malformations ectasia prevailed with a 49,47 %. 100 % of the cases with a compromise of the ureteovesiccal union, ureterocele and shell of the posterior urethra, 78 % of the patients with stenosis of the ureteropyelic union and 4,76 % of the patients with vesicoureteric reflux needed surgical treatment. The radiological studies were highly positive. 1,41 % of the patients developed chronic renal failure.Conclusions: Most of the patients with renal and urinary tract congenital malformations were diagnosed before the 5 years of age. Only four patients developed chronic renal failure.

  7. 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

  8. 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

  9. 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.

  10. 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.

  11. Arnold-Chiari Type II Malformation: A Case Report and Review of Prenatal Sonographic Findings

    Directory of Open Access Journals (Sweden)

    Maryam Nik Nejadi

    2008-01-01

    Full Text Available The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downwarddisplacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into thespinal canal. This malformation is one of causative factor of death in neonates and infants. Athorough understanding of the direct and indirect sonographic findings is necessary for diagnosis ofChiari II malformation in the developing fetus.In this case report, we present a Chiari malformation II detected at 23 weeks of gestation by routinelysonographic screening. The Role of prenatal sonography in recognition of the malformation andprognostic value of these features are discussed.

  12. 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

  13. Congenital anal anomalies in two families with the Opitz G syndrome.

    OpenAIRE

    Tolmie, J.L.; Coutts, N; Drainer, I K

    1987-01-01

    Five children from two families presented to a regional neonatal surgical unit between 1959 and 1984 with congenital anal anomalies and other malformations resulting from an autosomal dominant inherited condition, the Opitz G syndrome. This and other Mendelian causes of congenital anal malformations are briefly discussed in view of their importance for genetic counselling.

  14. 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.

  15. Ethanol sclerotherapy of peripheral venous malformations

    International Nuclear Information System (INIS)

    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

  16. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    International Nuclear Information System (INIS)

    Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

  17. 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...

  18. 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)

  19. 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 prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize the...... literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also be...

  20. 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.

  1. Congenital pachygyria

    Directory of Open Access Journals (Sweden)

    Jing-xia HU

    2016-02-01

    Full Text Available Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2 and vimentin (Vim or neurofilament protein (NF. Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6, while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD type ? b and tuberous sclerosis complex (TSC. Clinical history, imaging and histological features should be included in the diagnosis. DOI: 10.3969/j.issn.1672-6731.2016.02.005

  2. 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...

  3. Spinal vascular malformations

    International Nuclear Information System (INIS)

    Spinal vascular malformations are a group of rare diseases with different clinical presentations ranging from incidental asymptomatic findings to progressive tetraplegia. This article provides an overview about imaging features as well as clinical and therapeutic aspects of spinal arteriovenous malformations, cavernomas and capillary telangiectasia. (orig.)

  4. 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 ...

  5. 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.

  6. 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

  7. 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...

  8. 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.

  9. Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

    Energy Technology Data Exchange (ETDEWEB)

    Olow-Nordenram, M.A.K.; Raadberg, C.T.

    1984-01-01

    Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.

  10. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    OpenAIRE

    Alok Sachan; Suresh, V.; D Rajasekhar; Vanaja, V.; C. V. Harinarayan; Rajagopal, G.; P Amaresh Reddy

    2010-01-01

    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...

  11. 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).

  12. 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.

  13. Congenital Anomalies in Diamond Blackfan Anemia (DBA)

    Science.gov (United States)

    ... About one in five people with DBA have congenital abnormalities in the kidneys, urinary tract, and genital organs. ... higher on the back than normal. KLIPPEL-FEIL MALFORMATION Short neck, abnormal bones of the spine in the ... the following: VSD (VENTRICULAR SEPTAL ...

  14. Congenital spine anomalies: the closed spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

    Schwartz, Erin Simon [University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Perelman School of Medicine, Philadelphia, PA (United States); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Radiology, Genoa (Italy)

    2015-09-15

    The term congenital spinal anomalies encompasses a wide variety of dysmorphology that occurs during early development. Familiarity with current terminology and a practical, clinico-radiologic classification system allows the radiologist to have a more complete understanding of malformations of the spine and improves accuracy of diagnosis when these entities are encountered in practice. (orig.)

  15. 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.)

  16. 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

  17. Building the Vertebrate Spine

    Science.gov (United States)

    Pourquié, Olivier

    2008-03-01

    The vertebrate body can be subdivided along the antero-posterior (AP) axis into repeated structures called segments. This periodic pattern is established during embryogenesis by the somitogenesis process. Somites are generated in a rhythmic fashion from the paraxial mesoderm and subsequently differentiate to give rise to the vertebrae and skeletal muscles of the body. Somite formation involves an oscillator-the segmentation clock-whose periodic signal is converted into the periodic array of somite boundaries. This clock drives the dynamic expression of cyclic genes in the presomitic mesoderm and requires Notch and Wnt signaling. Microarray studies of the mouse presomitic mesoderm transcriptome reveal that the segmentation clock drives the periodic expression of a large network of cyclic genes involved in cell signaling. Mutually exclusive activation of the Notch/FGF and Wnt pathways during each cycle suggests that coordinated regulation of these three pathways underlies the clock oscillator. In humans, mutations in the genes associated to the function of this oscillator such as Dll3 or Lunatic Fringe result in abnormal segmentation of the vertebral column such as those seen in congenital scoliosis. Whereas the segmentation clock is thought to set the pace of vertebrate segmentation, the translation of this pulsation into the reiterated arrangement of segment boundaries along the AP axis involves dynamic gradients of FGF and Wnt signaling. The FGF signaling gradient is established based on an unusual mechanism involving mRNA decay which provides an efficient means to couple the spatio-temporal activation of segmentation to the posterior elongation of the embryo. Another striking aspect of somite production is the strict bilateral symmetry of the process. Retinoic acid was shown to control aspects of this coordination by buffering destabilizing effects from the embryonic left-right machinery. Defects in this embryonic program controlling vertebral symmetry might lead to scoliosis in humans. Finally, the subsequent regional differentiation of the precursors of the vertebrae is controlled by Hox genes, whose collinear expression controls both gastrulation of somite precursors and their subsequent patterning into region-specific types of structures. Therefore somite development provides an outstanding paradigm to study patterning and differentiation in vertebrate embryos.

  18. 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.

  19. MRI and MR angiography of cerebral arterio-venous malformations

    International Nuclear Information System (INIS)

    Av malformations are cerebral abnormalities with a high risk of bleeding. The role of MRI and MR angiography (MRA) for demonstrating these congenital vascular malformations has been studied. It has been shown that MRI/MRA can provide a rapid and certain diagnosis. MRA can demonstrate arteries to the second set of branches beyond the main cerebral vessels. It has the advantage of being able to produce rapidly and non-invasively 3-D images and, unlike conventional angiography, it can be repeated at will. The disadvantage is the limited spacial resolution and the difficulty in distinguishing between arteries and veins. (orig.)

  20. Congenital neutropenia.

    Science.gov (United States)

    Klein, Christoph

    2009-01-01

    Congenital neutropenia comprises a variety of genetically heterogeneous phenotypic traits. Molecular elucidation of the underlying genetic defects has yielded important insights into the physiology of neutrophil differentiation and function. Non-syndromic variants of congenital neutropenia are caused by mutations in ELA2, HAX1, GFI1, or WAS. Syndromic variants of congenital neutropenia may be due to mutations in genes controlling glucose metabolism (SLC37A4, G6PC3) or lysosomal function (LYST, RAB27A, ROBLD3/p14, AP3B1, VPS13B). Furthermore, defects in genes encoding ribosomal proteins (SBDS, RMRP) and mitochondrial proteins (AK2, TAZ) are associated with congenital neutropenia syndromes. Despite remarkable progress in the field, many patients with congenital neutropenia cannot yet definitively be classified by genetic terms. This review addresses diagnostic and therapeutic aspects of congenital neutropenia and covers recent molecular and pathophysiological insights of selected congenital neutropenia syndromes. PMID:20008220

  1. 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.

  2. Congenital Pseudohorseshoe Lung Associated with Scimitar Syndrome

    International Nuclear Information System (INIS)

    Horseshoe lung is a congenital pulmonary malformation that is usually associated with scimitar syndrome. This malformation consists of fusion of both pulmonary lobes from the posterobasal segments. The fusion appears in the retrocardiac area, in front of the esophagus and thoracic aorta. Pleural separation of pulmonary lobes distinguishes pseudohorseshoe appearance from a true horseshoe lung. Scimitar syndrome known as hypogenetic lung syndrome is a part of the congenital pulmonary venolobar syndrome. It is a partial anomalous pulmonary venous return with pulmonary hypoplasia. Scimitar vein is an anomalous drainage vessel between the right pulmonary lobe vessels and the inferior vena cava. The appearance of the vessel resembles Turkish scimitar; therefore, the syndrome is called scimitar syndrome. We hereby report a 61-year-old woman with adult form congenital scimitar syndrome and will describe the imaging findings of pseudohorseshoe lung appearance

  3. 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.)

  4. Split Cord Malformation: A Report of Two Cases

    Directory of Open Access Journals (Sweden)

    Fatih Temiztürk

    2010-03-01

    Full Text Available Split cord malformation (Diastometamyelia,diplomyelia is a rare developmental embryological fusion defect and is characterized by double spinal cord formation. It is an important etiological factor in the pathogenesis of scoliosis. Magnetic resonance imaging and computed tomography are very useful radiological examinations in the diagnosis. In addition, X Ray is helpful in detecting bone septum and vertebral anomalies. Here, we present two cases, who were diagnosed at 41 and 52 years of age as having the rarely seen split cord malformation. Turk J Phys Med Rehab 2010;56:37-9.

  5. 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)

  6. Extralobar sequestration of lung associated with congenital diaphragmatic hernia and malrotation of gut

    Directory of Open Access Journals (Sweden)

    Kalpana Ranjitsingh Sulhyan

    2015-01-01

    Full Text Available Extralobar sequestration of lung is a rare congenital malformation frequently diagnosed during repair of congenital diaphragmatic hernia. However, the combined association of congenital diaphragmatic hernia with both pulmonary sequestration and malrotation of gut is rare. We report a case of a 1-year-old girl with extralobar sequestration of lung and malrotation of gut detected during the repair of diaphragmatic hernia. The histopathological examination of the sequestered lobe revealed dilated bronchioles, alveolar ducts and alveoli along with dilated subpleural and peribronchiolar lymphatics and areas of type II congenital pulmonary airway malformation.

  7. Radionuclide imaging in the diagnosis of congenital anomalies of the kidney

    International Nuclear Information System (INIS)

    Congenital malformations of the kidney are fairly common. 57 patients with various types of congenital malformations of the kidney underwent renal scintigraphy. Most of them also underwent abdominal ultrasonography and intravenous urography. Scintigraphy was found to have high sensitivity (80 to 100%) for detection of renal congenital anomalies. Ultrasonography exhibited a somewhat lower sensitivity. The sensitivity exhibited by intravenous urography was similar to scintigraphy. It is concluded that renal scintigraphy can play a key role in the diagnosis of renal congenital anomalies, and hence, along with ultrasonography, should be performed in all such cases. (author)

  8. 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.

  9. The incidence of cardiac lesions in infants born with major gastrointestinal malformations in Northern Ireland.

    OpenAIRE

    THOMPSON, A. J.; Mulholland, H.C.

    2000-01-01

    There is a recognised association between major gastrointestinal (GI) malformations and congenital heart disease (CHD). A retrospective study over 10 years involving 240 infants born with gastrointestinal malformations was conducted in the Royal Belfast Hospital For Sick Children (RBHSC). We felt it was important to look at the incidence of CHD diagnosed in the infants presenting to the tertiary referral centre in Belfast. Comparable figures for the incidence of CHD associated with major GI m...

  10. Rectal and splenic vascular malformation in klippel trenaunay weber syndrome: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Ha Youn; Chang, Yun Woo; Lee, Dong Hwan [Soonchunhyang Univ. Hospital, Seoul (Korea, Republic of)

    2012-10-15

    Klippel Trenaunay Weber syndrome (KTWS) is a rare congenital disorder, characterized by a cutaneous vascular nevus of the involved extremity, vascular malformations, bone and soft tissue hypertrophy of the extremity. We present the case of an 18 year old female patient with KTWS, showing a marked rectosigmoid wall thickening and phlebolith, and also variable sized cystic masses in the spleen, as a result of vascular malformations.

  11. Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism

    OpenAIRE

    Pang, Chang Hwan; Lee, Soo Eon; Kim, Chi Heon; Chung, Chun Kee

    2015-01-01

    The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyro...

  12. 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.)

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

    International Nuclear Information System (INIS)

    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.)

  14. Pediatric Stroke: The Importance of Cerebral Arteriopathy and Vascular Malformations

    OpenAIRE

    Beslow, Lauren A.; JORDAN, LORI C

    2010-01-01

    Stroke is an important cause of neurologic morbidity in childhood. Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 children. This article will review recent literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations as stroke risk factors. Additional risk factors include congenital heart disease, sickle cell disease, and hematologic abnormalities among others. Outcomes ar...

  15. 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.

  16. A STUDY ON THORACIC VERTEBRAL SYNOSTOSIS & ITS CLINICAL IMPORTANCE

    Directory of Open Access Journals (Sweden)

    Md. Khaleel

    2015-01-01

    Full Text Available Vertebral anomalies are of interest not only to anatomist, but also to orthopedician, neurologist & neurosurgeons. Various vertebral anomalies of anatomic interest have been reported namely; occipitalisation, sacralisation, lumbarisation, absence of posterior elements of vertebral arch & vertebral s ynostosis. The fusion of vertebral column is rare anomalies usually congenital in origin. The fusion of thoracic vertebrae can present many clinical sign including congenital scoliosis. A study on 594 dry adult human vertebrae of unknown age & sex collected from the department of anatomy and phase I students of KBNIMS, Kalaburagi, Karnataka. The study was done over a period of 6 months (July to December 2014 during routine osteology classes for 1 year MBBS, we found the fusion of typical thoracic vertebrae between T 3 & T 4 . The cause could be failure of re - segmentation of somitomeres or acquired.

  17. MRI of the brain: malformations

    International Nuclear Information System (INIS)

    Brain malformations include occlusion, diverticula, neuronal migration abnormalities, cystic malformations, and histogenetic disorders in neurocutaneous syndromes. The multiple planes of section, excellent white/gray matter differentiation and accurate delineation of the brain cortex available with magnetic resonance imaging make it a tool of choice for the diagnosis of malformations, as well as for prognosis and genetic counseling

  18. Newborn male presented with congenital diaphragmatic hernia and ileal atresia: A case report

    OpenAIRE

    Al-Faraaz Kassam; Clare Skerritt; Srikumar Pillai

    2015-01-01

    Infants with congenital diaphragmatic hernia (CDH) have an increased incidence of associated malformations. The malformations often include craniofacial abnormalities, skeletal defects, and cardiac defects. Ileal atresia is an anomaly that has not yet been described in association with CDH. We describe a patient with a left congenital diaphragmatic hernia who was later diagnosed with ileal atresia. It is our belief that this is the first report of its kind in the literature.

  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; Nohr, Ellen Aagaard; Nørgaard, Mette

    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...

  20. 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

  1. 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.

  2. Congenital microcephaly

    OpenAIRE

    Alcantara, Diana; O'Driscoll, Mark

    2014-01-01

    The underlying etiologies of genetic congenital microcephaly are complex and multifactorial. Recently, with the exponential growth in the identification and characterization of novel genetic causes of congenital microcephaly, there has been a consolidation and emergence of certain themes concerning underlying pathomechanisms. These include abnormal mitotic microtubule spindle structure, numerical and structural abnormalities of the centrosome, altered cilia function, impaired DNA repair, DNA ...

  3. [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

  4. Multiple de novo vascular malformations in relation to diffuse venous occlusive disease: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Desal, H.A. [Hopital Laennec, University of Nantes, Department of Neuroradiology, Nantes (France); Toronto Western Hospital, Department of Medical Imaging, University Health Network, Toronto, Ont. (Canada); Lee, S.K.; Kim, B.S.; TerBrugge, K.G. [Toronto Western Hospital, Department of Medical Imaging, University Health Network, Toronto, Ont. (Canada); Raoul, S.; Tymianski, M. [Toronto Western Hospital, Department of Neurosurgery, University Health Network, Toronto, Ont. (Canada)

    2005-01-01

    Brain vascular malformations are dynamic disorders. Although mostly considered to be of congenital origin, the improvement of clinical imaging and vasculogenesis knowledge has shown that they might also result from a biological dysfunction of the remodeling process after birth. Venous occlusive disease and ishemia may represent powerful revealing triggers and support the capillary venous origin of some vascular malformations. We report a unique case of the development of multiple de novo vascular malformations (transverse sinus dural fistula and posterior fossa cavernomas) following acoustic neuroma surgery. (orig.)

  5. Split Cord Malformation: A Report of Two Cases

    OpenAIRE

    Fatih Temiztürk; Aliye Y?ld?r?m Güzelant; ?ule Temiztürk; Mehmet Hayri Özgüzel

    2010-01-01

    Split cord malformation (Diastometamyelia,diplomyelia) is a rare developmental embryological fusion defect and is characterized by double spinal cord formation. It is an important etiological factor in the pathogenesis of scoliosis. Magnetic resonance imaging and computed tomography are very useful radiological examinations in the diagnosis. In addition, X Ray is helpful in detecting bone septum and vertebral anomalies. Here, we present two cases, who were diagnosed at 41 and 52 years of age...

  6. 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)

  7. [Congenital foot abnormalities].

    Science.gov (United States)

    Delpont, M; Lafosse, T; Bachy, M; Mary, P; Alves, A; Vialle, R

    2015-03-01

    The foot may be the site of birth defects. These abnormalities are sometimes suspected prenatally. Final diagnosis depends on clinical examination at birth. These deformations can be simple malpositions: metatarsus adductus, talipes calcaneovalgus and pes supinatus. The prognosis is excellent spontaneously or with a simple orthopedic treatment. Surgery remains outstanding. The use of a pediatric orthopedist will be considered if malposition does not relax after several weeks. Malformations (clubfoot, vertical talus and skew foot) require specialized care early. Clubfoot is characterized by an equine and varus hindfoot, an adducted and supine forefoot, not reducible. Vertical talus combines equine hindfoot and dorsiflexion of the forefoot, which is performed in the midfoot instead of the ankle. Skew foot is suspected when a metatarsus adductus is resistant to conservative treatment. Early treatment is primarily orthopedic at birth. Surgical treatment begins to be considered after walking age. Keep in mind that an abnormality of the foot may be associated with other conditions: malposition with congenital hip, malformations with syndromes, neurological and genetic abnormalities. PMID:25524290

  8. The role of MRI in suspected inner ear malformations

    International Nuclear Information System (INIS)

    Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.)

  9. Congenital Pouch Colon with Unilateral Renal Agenesis and Monorchism

    Directory of Open Access Journals (Sweden)

    LalitKumar Vaid

    2010-12-01

    Full Text Available Background:Congenital pouch colon, also known as congenital short colon or "Pouch colon syndrome", is a rare condition that occurs in association with anorectal malformations; colon is either partially or completely replaced by pouch-like dilatation and communicates with the urogenital tract by means of a fistula. This anomaly is exclusively seen in Northern parts of India with only a few cases reported from elsewhere. Case Presentation:A 1-day old neonate was presented with abdominal distension due to lack of passage of meconium. Clinical and radiological investigations revealed ano-rectal malformation. Incidental findings were left sided renal agenesis and right sided anorchia. Laparotomy revealed congenital pouch colon which was dealt accordingly. The baby is now healthy and awaiting further reconstructive surgery. Conclusion:Although urogenital anomalies are not uncommon with congenital pouch colon, the finding of renal agenesis with unilateral anorchia is quite rare.

  10. Congenital Pouch Colon with Unilateral Renal Agenesis and Monorchism

    Directory of Open Access Journals (Sweden)

    Subhramoy Chaudhury

    2010-12-01

    Full Text Available Background:Congenital pouch colon, also known as congenital short colon or "Pouch colon syndrome", is a rare condition that occurs in association with anorectal malformations; colon is either partially or completely replaced by pouch-like dilatation and communicates with the urogenital tract by means of a fistula. This anomaly is exclusively seen in Northern parts of India with only a few cases reported from elsewhere. Case Presentation:A 1-day old neonate was presented with abdominal distension due to lack of passage of meconium. Clinical and radiological investigations revealed ano-rectal malformation. Incidental findings were left sided renal agenesis and right sided anorchia. Laparotomy revealed congenital pouch colon which was dealt accordingly. The baby is now healthy and awaiting further reconstructive surgery.Conclusion:Although urogenital anomalies are not uncommon with congenital pouch colon, the finding of renal agenesis with unilateral anorchia is quite rare.

  11. 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

  12. 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 ...

  13. 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...

  14. 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...

  15. Giant congenital melanocytic nevus scalp: report of a rare case

    Directory of Open Access Journals (Sweden)

    A. Bhagyalakshmi

    2013-06-01

    Full Text Available Giant congenital melanocytic nevus (garment nevus is a kind of congenital malformation of neural crest cells with size greater than 20 cm. Malignant melanoma may develop in 2-31% of these lesions. The objective of this paper is to present a unique case of giant nevus which is rare. [Int J Res Med Sci 2013; 1(3.000: 317-319

  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. Congenital Pouch Colon with Unilateral Renal Agenesis and Monorchism

    OpenAIRE

    LalitKumar Vaid; Samikshan Dutta; Indranil Chatterjee; Subhramoy Chaudhury; Kanchan Mukhopadhyay

    2010-01-01

    Background:Congenital pouch colon, also known as congenital short colon or "Pouch colon syndrome", is a rare condition that occurs in association with anorectal malformations; colon is either partially or completely replaced by pouch-like dilatation and communicates with the urogenital tract by means of a fistula. This anomaly is exclusively seen in Northern parts of India with only a few cases reported from elsewhere. Case Presentation:A 1-day old neonate was presented with abdominal distens...

  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 bone anomalies associated with lipomas

    International Nuclear Information System (INIS)

    Congenital bone anomalies are occasionally located adjacent to deep lipomas. These bone dysplasias may take the form of localized overgrowth or osseous malformation. Two patients wiht iliac anomalies and spinal dysraphism and one with a hypertrophied rib and vertebra associated with lipomas are described. As both the lipomas and osseous anomalies tend to lie in the same sensory nerve distribution, there may be a common embryonic neural dysfunction affecting formation and subsequent growth of these structures. (orig.)

  20. Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Addor, Marie-Claude; Boyd, Patricia A; Barisic, Ingeborg; Dolk, Helen

    2009-01-01

    OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include....... Fourteen liveborn infants (34%) died within the first year of life with the majority of deaths during the first week after birth. CONCLUSION: Congenital hydrocephalus is a severe congenital malformation often associated with other congenital anomalies. CH is often diagnosed prenatally, although sometimes...... information about livebirths, fetal deaths with GA>/=20weeks and terminations of pregnancy for fetal anomaly (TOPFA). All cases from the four registries diagnosed with congenital hydrocephalus and born in the period 1996-2003 were included in the study. Cases with hydrocephalus associated with neural tube...

  1. Multicentric osteolysis with nodulosis and arthropathy (MONA) with cardiac malformation, mimicking polyarticular juvenile idiopathic arthritis

    DEFF Research Database (Denmark)

    Castberg, Filip Christian; Kjaergaard, Susanne; Mosig, Rebecca A; Lobl, Mollie; Martignetti, Chiara; Martignetti, John A; Myrup, Charlotte; Zak, Marek

    2013-01-01

    six also had congenital cardiac malformations. Despite treatment attempts of our patient with methotrexate, eternacept and prednisolone, serial X-ray studies documented continuous severe bone degeneration. Conclusion: The case documents the natural history of MONA and establishes a link between MMP2...

  2. 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

  3. 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.)

  4. Medical imaging for congenital anomalies of the lung. Focused on tracheobronchial and parenchymal anomalies

    International Nuclear Information System (INIS)

    This is a review of medical imaging studies for congenital anomalies of the lung focused on tracheobronchial and parenchymal anomalies. It is important to know the findings of these developmental anomalies, because they are frequently manifested as infectious diseases or mass. Documented details are pulmonary agenesis, aplasia, pulmonary hypoplasia, tracheal agenesis, bridging bronchus, tracheal bronchus, congenital tracheal stenosis, bronchial atresia, bronchobiliary fistula, bronchogenic cyst, bronchopulmonary sequestration, congenital cystic adenomatoid malformation, and pulmonary lymphangiectasia. (author)

  5. 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...

  6. 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.

  7. Multiple Congenital Anomalies after Assisted Reproductive Technology in Japan (between 2004 and 2009)

    OpenAIRE

    Ooki, Syuichi

    2013-01-01

    Multiple congenital anomalies (MCAs) are defined as two or more unrelated major structural malformations that cannot be explained by an underlying syndrome or sequence. The percentage and combination patterns of MCAs were analyzed using the European surveillance of congenital anomalies computer algorithms for nationwide data on congenital anomalies after assisted reproductive technology between 2004 and 2009 in Japan. There were a total of 177,548 pregnancies and 124,846 live births. About 7%...

  8. 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 ...

  9. Classification and diagnosis of ear malformations

    OpenAIRE

    Bartel-Friedrich, Sylva; Wulke, Cornelia

    2008-01-01

    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 externa...

  10. 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

  11. 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.

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

    International Nuclear Information System (INIS)

    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.)

  13. 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.)

  14. 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

  15. Congenital hydronephrosis: prenatal diagnosis and epidemiology in Europe

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Wellesley, Diana; Barisic, Ingeborg; Working Group, Eurocat

    2009-01-01

    OBJECTIVE: To describe prevalence, prenatal diagnosis and epidemiology of congenital hydronephrosis (CH) in Europe. MATERIAL AND METHOD: Data from a large European database for surveillance of congenital malformations (EUROCAT). The 20 participating registries are all based on multiple sources of...... information and include information about livebirths, fetal deaths with gestational age >or=20 weeks and terminations of pregnancy after prenatal diagnosis of malformations. Included were all cases with CH and born 1995-2004. RESULTS: There were 3648 cases with CH giving an overall prevalence of 11.5 cases...... renal malformation. There were large regional differences in prevalence of CH ranging from 2 to 29 per 10,000 births. There was little regional variation in the prevalence of postnatally diagnosed cases while there were large regional differences in prevalence of prenatally diagnosed cases. CONCLUSION...

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

    OpenAIRE

    Clarke Kieran; Neubauer Stefan; Broadbent Carol; Gruber Achim D; Bamforth Simon D; Böse Jens; Schneider Jürgen E; Lengeling Andreas; Bhattacharya Shoumo

    2004-01-01

    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 f...

  17. Risk of malformations and other outcomes in children exposed to fluconazole in utero

    DEFF Research Database (Denmark)

    Sørensen, Henrik Toft; Nielsen, Gunnar Lauge; Olesen, Charlotte; Larsen, Helle; Steffensen, Flemming Hald; Schønheyder, Henrik Carl; Olsen, Jørn; Czeizel, Andrew E.

    1999-01-01

    Aim?Fluconazole is an active drug systematically used in the oral treatment of vaginal candidiasis and other fungal diseases. We examined the risk of malformations and other birth outcomes following pregnancy related exposures. Method?From 1 January 1991 to 31 December 1996 we identified 165 wome...... congenital malformations, low birth weight or preterm birth in offspring to women who had used single dose fluconazole before conception or during pregnancy.......Aim?Fluconazole is an active drug systematically used in the oral treatment of vaginal candidiasis and other fungal diseases. We examined the risk of malformations and other birth outcomes following pregnancy related exposures. Method?From 1 January 1991 to 31 December 1996 we identified 165 women...... who had taken fluconazole just before or during pregnancy in the Pregnancy Outcome Section of the North Jutland Pharmacoepidemiological Prescription Database, Denmark, which is linked to the Danish Medical Birth Registry. We compared their birth outcomes (malformation, low birth weight and preterm...

  18. 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

  19. Arterio-venous malformations - classification, imaging and endovascular treatment

    International Nuclear Information System (INIS)

    Arterio-venous malformations of the brain (brain AVMs) correspond to congenital cerebrovascular anomalies. They are cause of death and long-term morbidity mostly due to intracranial hemorrhage and epilepsy; however, they may remain silent over a long period of time, even over an entire life. The most frequent clinical presentations of brain AVMs are hemorrhage, seizure, chronic headache, and focal deficits not related to hemorrhage. Several systems have been designed to classify patients with brain AVMs regarding surgical risk (Spetzler et al., 1992) and individual hemorrhagic risk (Nataf et al., 1998). Embolization of arterio-venous malformations of the brain is a promising method for treatment. Variety of techniques, embolic agents, and even basic treatment concepts from one team to another and then from one publication to another. (author)

  20. Helical CT of congenital ossicular anomalies

    International Nuclear Information System (INIS)

    Since January 1996 to December 2000, 26 cases of congenital ossicular anomaly could be diagnosed with helical CT. All cases were unilateral. In 8 patients with malformation of the external ear, CT showed malleoincudal fixation (n=5), malleoincudal fixation and deformed incuts long process (n=1), deformed incus long process (n=1), and partial fusion of malleus neck and incus long process (n=1). In 18 patients with normal external ear, CT showed defect of the incus long process (n=5), defect of both the incus long process and stapes superstructure (n=8, 2 patients with congenital cholesteatoma, 1 with hypoplastic oval window), defect of the stapes superstructure (n=2, 1 patient with oval window absence), defect of the malleus manubrium (n=1), ossification of the stampede's tendon (n=1), and monopod stapes (n=1). Helical CT can evaluate the auditory ossicular chain in detail and is useful for diagnosing congenital ossicular anomaly. (author)