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Sample records for congenital vertebral malformations

  1. Congenital malformations of the vertebral column in ancient amphibians.

    Science.gov (United States)

    Witzmann, F; Rothschild, B M; Hampe, O; Sobral, G; Gubin, Y M; Asbach, P

    2014-04-01

    Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations (hemi, wedge and block vertebrae) in Permian and Triassic temnospondyls, showing that defects of formation and segmentation in the tetrapod vertebral column represent a fundamental failure of somitogenesis that can be followed throughout tetrapod evolution. This is irrespective of the type of affected vertebra, that is, rhachitomous or stereospondylous, and all components of the vertebra can be involved (intercentrum, pleurocentrum and neural arch), either together or independently on their own. This is the oldest known occurrence of wedge vertebra and congenital block vertebra described in fossil tetrapods. The frequency of vertebral congenital malformations in amphibians appears unchanged from the Holocene. PMID:23551141

  2. Clinical, genetic and environmental factors associated with congenital vertebral malformations.

    Science.gov (United States)

    Giampietro, P F; Raggio, C L; Blank, R D; McCarty, C; Broeckel, U; Pickart, M A

    2013-02-01

    Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

  3. Congenital vascular malformation associated with multiple cranial, vertebral and upper limb skeletal abnormalities.

    Science.gov (United States)

    Marsden, N; Shokrollahi, K; Maw, K; Sierakowski, A; Bhat, F A; Mathur, B

    2010-07-01

    The association between congenital vascular malformations and altered bone growth, the so-called vascular bone syndrome, is well documented. Various eponymous syndromes each with their individual traits, such as Klippel-Trenaunay, Parkes-Weber and Servelle-Martorell syndrome have been described, along with variations. We report on a previously undescribed case of congenital vascular malformation associated with multiple skeletal abnormalities affecting the skull, vertebrae and right upper limb, and discuss the literature. PMID:20529464

  4. 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.)

  5. Regenerative medicine for congenital malformations.

    Science.gov (United States)

    De Coppi, Paolo

    2013-02-01

    This is a review of the progress in regenerative medicine and concepts behind the field of tissue engineering and cell transplantation as it applies to congenital malformations. It is based on the Journal of Pediatric Surgery invited lecture to the BAPS/EUPSA Congress in Rome, Italy, June 2012. PMID:23414851

  6. Congenital Chiari malformations

    Directory of Open Access Journals (Sweden)

    Vannemreddy Prasad

    2010-01-01

    Full Text Available Chiari malformation is the commonest anomaly of the craniovertebral junction involving both the skeletal as well as the neural structures. This entity has rapidly evolved over the past decade with newer visualization techniques, thus posing new challenges to diagnosis and management. This review includes the developmental theories, the latest nomenclature and existing treatment modalities of this interesting anomaly. Five theories tried to explain the malformation of the hindbrain and the neuraxis but no single theory completes the development of embryonic defects. Several atypical presentations have been reported with either incidental/asymptomatic features resulting in further classifications. The new magnetic resonance imaging flow techniques attempt to substantiate the clinical presentations and correlate with the abnormality which can be subtle in correlation. Surgical correction to improve the cranial volume, decrease the hydrocephalus and improve flow across the foramen magnum is the mainstay but needs to be tailored to a given type of malformation. Further clinical and imageological studies, especially longitudinal natural history, might improve our understanding of the atypical/asymptomatic presentations and the management that is currently available.

  7. 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

  8. Morphological variation of "complex vertebral malformation" in Holstein calves.

    Science.gov (United States)

    Agerholm, Jorgen S; Bendixen, Christian; Arnbjerg, Jens; Andersen, Ole

    2004-11-01

    A study was performed to investigate the morphological expression of the inherited syndrome "complex vertebral malformation" (CVM) in Holstein calves. A total of 107 late-term aborted, premature, or neonatal calves suspected of having CVM were necropsied and retrospectively analyzed for the causal mutation in the gene SLC35A3. Sixty-two calves were homozygous affected, 16 were heterozygous, and 29 were homozygous normal. Calves affected by CVM were growth retarded. Vertebral lesions identified by radiography were present in 61 cases, of which 58 also had costal malformation. Malformation of the head, primarily in the form of dysplasia or palatoschisis, was present in 15 cases. Bilateral symmetric flexion of the carpal and metacarpophalangeal joints was present in all cases, whereas posterior arthrogryposis was found in 54 cases. Interventricular septal defects occurred in 33 calves, often in combination with other cardiac malformations. A wide spectrum of additional malformations was found. Other congenital syndromes were in most cases distinguishable from CVM on a morphological basis. However, a calf with a prenatal infection with bovine virus diarrhea virus constituted a phenocopy. The study demonstrated that the morphological expression of CVM is wide, but certain aspects, i.e., growth retardation, vertebral malformation, and symmetric arthrogryposis, are almost constant findings. However, cases without vertebral defects and phenocopies constitute a diagnostic problem. A presumptive diagnosis of CVM can in most cases be based on necropsy findings combined with information on descent and paternal CVM genotype, whereas a definitive diagnosis requires genotyping. PMID:15586570

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

    International Nuclear Information System (INIS)

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

  10. Congenital bronchopulmonary foregut malformations: concepts and controversies

    Energy Technology Data Exchange (ETDEWEB)

    Newman, Beverley [University of Pittsburgh School of Medicine and Children' s Hospital of Pittsburgh, Pittsburgh, PA (United States)

    2006-08-15

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

  11. Congenital bronchopulmonary foregut malformations: concepts and controversies

    International Nuclear Information System (INIS)

    This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

  12. Congenital hand anomaly: etiology and associated malformations.

    Science.gov (United States)

    Goldberg, M J; Bartoshesky, L E

    1985-08-01

    Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affect surgical timings and the indications for surgical correction. Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, syndactyly, and polydactyly. PMID:3007544

  13. Factors associated with congenital malformations in Thailand.

    Science.gov (United States)

    Suwatanaviroj, A; Ratrisawadi, V

    1996-09-01

    A case-control study conducted at 17 general hospitals and 2 maternal-child health centers in Thailand's central, northern, northeastern, and southern regions sought to identify the risk factors for congenital malformations--the leading cause of death in the neonatal and infancy periods. All cases seen at these facilities from May 1987 to April 1988 were included; normal infants born before and after the study case served as controls. The case-control ratio was 1:2. In this 12-month period, congenital malformations occurred in 437 infants (0.95% of total live births). Most common were malformations of the musculo-skeletal system, cleft lip or cleft palate, and malformations of the nervous system. Risk factors significantly associated with malformations included maternal age over 35 years, low maternal education, separated/divorced marital status, family history of similar anomalies, an accident during pregnancy, maternal illness during pregnancy, and maternal hypertension during pregnancy. These findings suggest that environmental, hereditary, physiological, and emotional factors all play a role in the incidence of congenital malformations. Recommended are measures to identify and reduce (where possible) these risk factors, genetic counseling, and improved prenatal and postnatal diagnosis. PMID:8996981

  14. 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.)

  15. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

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

  16. 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.

  17. 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.

  18. 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.)

  19. Congenital spinal malformations; Kongenitale spinale Malformationen

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    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.)

  20. 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 SciELO Brazil | Languages: English, Portuguese Abstract in portuguese 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.

  1. Congenital bronchopulmonary vascular malformations, “sequestration” and beyond

    Science.gov (United States)

    Irodi, Aparna; Prabhu, Shailesh M; John, Reetu Amrita; Leena, RV

    2015-01-01

    Congenital bronchopulmonary vascular malformations (BPVMs) include a broad spectrum of disorders that involve abnormalities in the form of disruptions of normal communication and/or presence of abnormal communication between one or more of the three main systems of the lung, namely, the airways, arteries, and veins. The establishment of abnormal communications by means of small openings or anastomoses is termed as malinosculation. The aim of this pictorial essay is to illustrate the imaging appearances of the various types of pulmonary malinosculation. PMID:25709164

  2. Congenital cardiovascular malformations and the fetal circulation.

    Science.gov (United States)

    Rudolph, A M

    2010-03-01

    After birth, gas exchange is achieved in the lung, whereas prenatally it occurs in the placenta. This is associated with differences in blood flow patterns in the fetus as compared with the postnatal circulation. Congenital cardiovascular malformations are associated with haemodynamic changes in the fetus, which differ from those occurring postnatally. Obstruction to cardiac outflow may alter myocardial development, resulting in progressive ventricular hypoplasia. Alteration of oxygen content may profoundly influence pulmonary vascular and ductus arteriosus responses. Interference in blood flow and oxygen content may affect cerebral development as a result of inadequate oxygen or energy substrate supply. The circulatory effects may be gestational dependent, related to maturation of vascular responses in different organs. These prenatal influences of congenital cardiac defects may severely affect immediate, as well as longterm, postnatal prognosis and survival. This has stimulated the development of techniques for palliation of disturbed circulation during fetal life. PMID:19321508

  3. 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.

  4. 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)

  5. Congenital malformations of the external and middle ear

    International Nuclear Information System (INIS)

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

  6. 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)

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

    DEFF Research Database (Denmark)

    Zhu, Jin Liang; Basso, Olga

    2006-01-01

    OBJECTIVES: To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. DESIGN: Longitudinal study. SETTING: Danish national birth cohort. PARTICIPANTS: Three groups of liveborn children and their mothers: 50,897 singletons and 1366 twins born of fertile couples (time to pregnancy 12 months), and 4588 singletons and 1690 twins born after infertility treatment. MAIN OUTCOME MEASURES: Prevalence of congenital malformations determined from hospital discharge diagnoses. RESULTS: Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations-hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had 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 untreated infertility and congenital malformations warrants further examination.

  8. 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 Cirth. From this case only 12 babies with CM was birth in the families of personnel of the atomic industry. (Author)

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

    Science.gov (United States)

    Norstedt Wikner, Birgitta

    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 or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23?259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1?567?736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14). For anal atresia the RR was 1.85 (95% CI 1.00–1.85) and for choanal atresia 3.14 (95% CI 1.26–6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955

  10. 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

  11. Regression of a Large Congenital Hepatic Arteriovenous Malformation

    Science.gov (United States)

    Zakaria, Rania; Mostafa, Fatma Alzahraa; Hamza, Hala

    2015-01-01

    Congenital hepatic arteriovenous malformations are rarely seen in association with persistent neonatal pulmonary hypertension. We report the case of a full-term female newborn who presented with heart failure and respiratory distress soon after birth. Echocardiographic investigation revealed severe persistent pulmonary hypertension and patent ductus arteriosus. Here we report spontaneous regression in size of both the feeder vessel and the vascular bed of the congenital hepatic arteriovenous malformation. We postulate that our conservative use of oral heart failure therapy, in the form of diuretic agents and captopril, decreased the congestion and diameter of the affected vessels.

  12. Gross congenital malformation at birth in a government hospital.

    Science.gov (United States)

    Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

    2014-01-01

    A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management. PMID:24748359

  13. 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)

  14. Prenatal diagnosis of congenital renal and urinary tract malformations

    OpenAIRE

    Hindryckx, A.; 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.

  15. 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.

  16. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    MØller, Rikke Steensbjerre

    2008-01-01

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

  17. Congenital malformations in newborns of alcoholic mothers

    OpenAIRE

    Maria dos Anjos Mesquita; Conceição Aparecida de Mattos Segre2

    2010-01-01

    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...

  18. Prenatal diagnosis of congenital lung malformations

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-03-15

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

  19. Scintigraphic detection of congenital intracranial vascular malformations

    International Nuclear Information System (INIS)

    Nine children with arteriovenous malformations (AVMs), and a tenth with a cerebral aneurysm, had computer-processed dynamic scintigraphy with static scintigrams, transmission computed tomography (CT) both with and without contrast injection, and radiopaque cerebral angiography. All ten lesions were detected by dynamic scintigraphy and angiography, whereas two AVMs were missed on CT scans and the aneurysm and two AVMs (one missed by CT) were not identified on static scintigrams. Time-activity curves generated from regions of interest placed over the cerebral hemispheres, AVMs and/or various venous structures permitted, respectively, estimation of interhemispheric partition of perfusion, estimation of the fraction of total cerebral hemispheric perfusion preferentially directed into a malformation, and indication of the route of venous drainage from the lesions. While dynamic scintigraphy and CT scanning both identified the aneurysm, scintigraphy was the most effective screening test for detecting AVMs owing to its accuracy, lower cost, and lack of required anesthesia, heavy sedation or iodinated contrast agents

  20. Congenital malformations of the hand and forearm in children: what radiologists should know.

    Science.gov (United States)

    Aucourt, Julie; Budzik, Jean-François; Manouvrier-Hanu, Sylvie; Mézel, Aurélie; Cotten, Anne; Boutry, Nathalie

    2012-04-01

    Congenital upper limb malformations represent complex pathologies because of their varied clinical presentations, imaging features, and etiologies. They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) deficiencies, (2) failure of differentiation with synostoses, carpal coalitions, syndactylies, and symphalangism, (3) duplication with ulnar dimelia and polydactylies, and (4) brachydactylies. Congenital Madelung's deformity, clinodactyly, camptodactyly, and Kirner's deformity are usually included in these malformations. Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeletal or nonskeletal abnormalities are essential to eventually diagnose an embryo fetopathy (maternal valproate treatment, constriction band syndrome), a genetic disorder (trisomy 21 or Down syndrome, Turner's syndrome, Holt-Oram syndrome), or a nongenetic syndrome (vertebral, anal, cardiac, tracheal, esophageal, renal, limb association, Poland's syndrome). Genetic counseling for a child presenting with a congenital upper limb malformation is of great value, both for the treating team and the parents, and imaging is often required. The latter is still largely supported by conventional radiography, both for diagnosis and functional prognosis, but ultrasound and magnetic resonance imaging will be great tools in the near future to better evaluate these conditions. PMID:22648430

  1. Bronchopulmonary malformations and congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    Nüvit Sar?murat

    2010-05-01

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

  2. 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.)

  3. SPINAL AND VERTEBRAL ANOMALIES ASSOCIATED WITH ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    A. Mirshemirani

    2008-10-01

    Full Text Available ObjectiveThe associations between imperforate anus and spinal and vertebral abnormalities and neurologic deficits are well recognized; these neurologic deficits have been considered static rather than progressive. However, recent experience indicates that some patients may develop progressive neurologic problems due to spinal cord lesions that are amenable to neurosurgical correction.Materials & MethodsThe medical records of 105 patients with imperforate anus, operated on by us, were retrospectively reviewed from 1996 to 2005. Patient's sex, anorectal type lesion and vertebral or spinal anomalies were determined by ultrasound, excretory urography, voiding cystouretherography (VCUG and lumbosacral x-ray.ResultsA hundred and five cases, consisting 48 (45.7% boys and 57 (54.3% girls, with anorectal malformations were studied; 70 patients were in high and intermediate type level, and totally 25 patients (35.7% with spinal and vertebral anomalies were found in this group.ConclusionAll patients with anorectal malformations (ARM should be investigated for spinal and vertebral anomalies to improve treatment outcomes in ARM.

  4. Antenatal management of pulmonary hyperplasia (congenital cystic adenomatoid malformation)

    OpenAIRE

    Ankers, D.; Sajjad, N.; Green, P.; Mcpartland, J. L.

    2010-01-01

    A 26-year-old lady was seen in antenatal clinic. Her anomaly scan at 20 weeks showed significant fetal abdominal ascites and an enlarged echo bright right lung with cardiac displacement. These findings were consistent with recognised type III congenital cystic adenomatoid malformation (CCAM). An induction of labour was undertaken at 32 weeks' gestation due to increasing maternal morbidity. Labour was complicated by abdominal dystocia and a fetal paracentesis was performed, draining 800 ml. A ...

  5. Gated magnetic resonance imaging of congenital cardiac malformations

    International Nuclear Information System (INIS)

    Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease

  6. The value of England and Wales congenital malformation notification scheme data for epidemiology: male genital tract malformations.

    OpenAIRE

    Swerdlow, A. J.; Melzer, D.

    1988-01-01

    Data from the England and Wales national congenital malformation notification scheme were examined for associations of male genital tract malformations. For some of the malformations comparison of notification rates with the literature suggested gross undernotification. There was also evidence suggesting bias: examination of the relationships of the malformations to birth weight, maternal parity, and maternal age at delivery showed some highly significant trends in risk, most of which were at...

  7. 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.)

  8. Spontaneous pneumothorax in a teenager with prior congenital pulmonary airway malformation

    OpenAIRE

    Shupe, Matthew P.; Kwon, Herbert P.; Morris, Michael J.

    2014-01-01

    Congenital pulmonary airway malformation (CPAM), previously referred to as congenital cystic adenomatoid malformation (CCAM), is a developmental malformation of the lower respiratory tract and the most commonly reported congenital lung lesion. Affected patients typically present with respiratory distress in the neonatal period from expanding cysts and resulting compression of surrounding lung parenchyma. However, some patients also remain asymptomatic until later in life. In this report, we p...

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

    Energy Technology Data Exchange (ETDEWEB)

    Laurin, S. [Lund Univ. (Sweden). Dept. of Radiology; Haegerstrand, I. [Lund Univ. (Sweden). Dept. of Pathology

    1999-03-01

    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.) With 4 figs., 2 tabs., 24 refs.

  10. 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.)

  11. Prenatal presentation and postnatal management of congenital thoracic malformations.

    Science.gov (United States)

    Bush, Andrew

    2009-11-01

    The antenatal finding of a congenital thoracic malformation (CTM) leads to anxiety in the parents and uncertainty as to the optimal management. The antenatal spectrum of CTM includes congenital cystic adenomatoid malformation, sequestration, congenital lobar emphysema, enteric and bronchogenic cysts, and bronchial atresia. Most lesions require no antenatal intervention, and shrink substantially in the third trimester, but if fetal hydrops develops, then antenatal intervention is required, occasionally medical but more usually surgical, because mortality is high. If the baby is symptomatic in the newborn period, then some form of surgical intervention is clearly required. The asymptomatic baby presents a therapeutic dilemma. Advocates of early surgery point to the complications of CTM, which include infection, pneumothorax, bleeding and malignant transformation. Those who are proponents of conservative management retort that some CTM disappear postnatally, and that the complication rate is unknown; many children appear never to need surgery. Furthermore, there is clearcut evidence that excision of a CTM does not totally eliminate the risk of a subsequent malignancy. It is clear that, both antenatally and postnatally, counselling of the family on a case by case basis is needed. The limitations of present evidence should be stressed. Different families will make different decisions about postnatal surgery in an asymptomatic baby. If surgery is performed, morbidity is low, particularly with a video-assisted thoracoscopic (VATS) procedure. PMID:19758773

  12. 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

  13. Late presentation of congenital cystic adenomatoid malformation of the lung

    Energy Technology Data Exchange (ETDEWEB)

    Hulnick, D.H.; Naidich, D.P.; McCauley, D.I.; Feiner, H.D.; Avitabile, A.M.; Greco, M.A.; Genieser, N.B.

    1984-06-01

    Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change.

  14. Late presentation of congenital cystic adenomatoid malformation of the lung

    International Nuclear Information System (INIS)

    Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change

  15. Lumbar disc herniation in a patient with congenital vertebral body anomaly: a case report.

    Science.gov (United States)

    Atabey, Cem; Ero?lu, Ahmet; Topuz, Ali Kivanc; Velio?lu, Murat; Demircan, Mehmet Nusret

    2014-12-01

    Lumbar disc herniation is characterized with low back and leg pain resulting from the degenerated lumbar disc compressing the spinal nerve root. The etiology of degenerative spine is related to age, smoking, microtrauma, obesity, disorders of familial collagen structure, occupational and sports-related physical activity. However, disc herniations induced by congenital lumbar vertebral anomalies are rarely seen. Vertebral fusion defect is one of the causes of congenital anomalies. The pathogenesis of embryological corpus vertebral fusion anomaly is not fully known. In this paper, a 30-year-old patient who had the complaints of low back and right leg pain after falling from a height is presented. She had right L5-S1 disc herniation that had developed on the basis of S1 vertebra corpus fusion anomaly in Lumbar computed tomography. This case has been discussed in the light of literature based on evaluations of Lumbar Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). This case is unique in that it is the first case with development of lumbar disc herniation associated with S1 vertebral corpus fusion anomaly. Congenital malformations with unusual clinical presentation after trauma should be evaluated through advanced radiological imaging techniques. PMID:25620987

  16. Congenital malformations in perinatal autopsy: a two-year prospective study.

    Science.gov (United States)

    Kalyani, R; Bindra, Mandeep S; Mahansetty, Hemalatha

    2013-02-01

    Perinatal autopsy detects the cause of death and also finds the various types of congenital malformation involving one or more than one system. Congenital malformations are one of the leading causes of perinatal deaths and infant mortality. In the present study various visceral malformations were detected in perinatal autopsies and categorised them systemwise. The prospective study was conducted during the period of June 2007 to May 2009 consisting of 32 cases. Out of 32 perinatal deaths studied, 30 were stillborn and in 2 there were early neonatal deaths. In each case, an attempt was made to find out the congenital malformation in perinatal deaths and clinicopathological correlation was attempted after a detailed postmortem and histopathological study. Congenital malformations were seen in 10 cases which accounted for 31.2% of perinatal deaths. A total of 64 congenital malformations were observed in 10 cases. Malformations of the alimentary system (20.31%) were most common followed by genito-urinary system (18.75%), musculoskeletal system (17.18%) and central nervous system (9.37%). There were other 22 congenital anomalies. Two cases of harlequin icthyosis and one case each of Meckel Gruber syndrome, sirenomelia and twin reverse arterial perfusion syndrome were also seen. In many of the perinatal deaths, internal malformations were not suspected clinically. Thus, autopsy is an invaluable tool for detecting visceral malformations, adding to the clinical diagnosis and counselling the parents for subsequent pregnancy. PMID:24003564

  17. [Toe transplantation in congenital malformations of the hand].

    Science.gov (United States)

    Foucher, G

    1997-11-01

    Toe transfer is a well established procedure for thumb and finger reconstruction after mutilation. The indications in congenital malformations are a mater of controversy. Out of a personal series of 209 patients, 42 were children presenting a congenital malformation. Thirty six, with 46 transfers were available for review. There is only one failure at the beginning of our experience. The main indication was absence of pinch either due to absence of thumb (like in congenital band syndrome or some extreme cases of ulnar club hand or cleft hand) or absence of long finger (like in symbrachydactyly monodactylous type) or lack of both thumb and finger (like in peromelic type of symbrachydactyly). In this last type, we have been disappointed by the functional result of the distal implantation of two second toes taken from both feet; we have proposed a "stub" operation consisting in a second toe transfer on the anterior aspect of the radial epiphysis to take advantage of the mobility of the wrist and the availability of plenty tendon transfer (in this proximal situation). When planing to "built" an absent pincer, an early age is mandatory for operation (mean 12 months), to ensure a good cortical integration. A less frequent indication is a partial toe transfer with a vascularized epiphysis to provide growth and mobility in some cases of thumb hypoplasia (like in symbrachydactyly or Blauth and Manske type III b). Results are difficult to assess due to the early operation but if the mobility has been disappointing (mean 32 degrees), sensibility (mean 2PD 5 mm) and growth were excellent. PMID:9554130

  18. Formation and malformation of the vertebrate left-right axis.

    Science.gov (United States)

    Hackett, Brian P

    2002-02-01

    Despite an externally symmetric body plan, the internal viscera of all vertebrates are asymmetric with respect to the left-right body axis. Determination of the handedness of this asymmetry is nonrandom and highly conserved among vertebrates. Errors in patterning along the left-right axis, which occur in about 1 in 10,000 human births, may result in significant morbidity and mortality. During early embryonic development, midline structures, in particular the node, coordinate patterning of the three main embryonic axes: anterior-posterior, dorsal-ventral, and left-right. A current model for specification of the handedness of left-right axis asymmetry invokes the activity of embryonic cilia in the node that create a net leftward flow of extraembryonic fluid. This flow is proposed to provide a signal for subsequent asymmetric gene expression. Signaling from the node defines patterns of asymmetric gene expression on the left and right sides of the embryo. These signals for "left" and "right" are ultimately interpreted by organ primordia during later development. Complex activating and inhibiting interactions involving TGF-beta family members, as well as homeobox transcription factors, mediate these asymmetric patterns of gene expression. The identification of the genes regulating left-right axis patterning in model organisms has resulted in the characterization of human mutations associated with left-right axis malformations. PMID:11898848

  19. Progress in the treatment of congenital malformations of the hand.

    Science.gov (United States)

    Buck-Gramcko, D

    1990-01-01

    Treatment of congenital malformations of the hand and forearm has progressed not only from new procedures, but especially due to a new technique, namely microsurgery. Microsurgery enables skilled hand surgeons to operate on the tiny hands of babies without damaging the anatomical structures. The optimal time for the correction of many deformities is during the first 2 years of life. This gives excellent adaptation of the corrected structures to their altered function, especially in combination with a long period of further growth. Several new procedures are described which have been made possible only since the introduction of microsurgery, either by microvascular anastomoses or by meticulous dissection technique (toe transplantation, proximal toe phalanx transplantation, nail wall formation in complex syndactyly, transposition of digital parts in polydactyly and radial club hand). PMID:2256343

  20. Congenital abnormalities of the vertebral column in ferrets.

    Science.gov (United States)

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

    2015-03-01

    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 ferrets (16.86%), mostly localized in the thoracolumbar and lumbosacral regions. The cervical region was affected in only one case. Transitional 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

  1. Congenital Malformations of the Gallbladder and Cystic Duct Diagnosed by Laparoscopy: High Surgical Risk

    OpenAIRE

    Carbajo, Miguel A.; Marti?n Del Omo, Juan C.; Blanco, Jose I.; Cuesta, Carmen; Marti?n, Fernando; Toledano, Miguel; Atienza, Ramon; Vaquero, Carlos

    1999-01-01

    Congenital anomalies of the gallbladder are rare and can be accompanied by other malformations of the biliary or vascular tree. Being difficult to diagnose during routine preoperative studies, these anomalies can provide surgeons with an unusual surprise during laparoscopic surgery.

  2. 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.)

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

    International Nuclear Information System (INIS)

    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.)

  4. Thoracoscopic resection of congenital cystic adenomatoid malformation in an adolescent.

    Science.gov (United States)

    Shimizu, Seiichi; Yamashita, Yoshinori; Mukaida, Hidenori; Hirabayashi, Naoki; Egawa, Hiromi; Kaneko, Mayumi; Sakatani, Akio; Takiyama, Wataru

    2013-02-01

    Congenital cystic adenomatoid malformation (CCAM) in adolescents or adults is extremely rare. In this case study, a 17-year-old boy was admitted to our clinic for the treatment of a giant bulla in the lower lobe of the right lung. Preoperative imaging studies led to the diagnosis of cystic lung disease. The patient underwent wedge resection of the right lower lobe with VATS, and histological examination confirmed the presentation of type 1 CCAM. A thoracoscopic lobectomy was performed after the second surgery because of postoperative air leakage.Herein, we report a case of CCAM in an adolescent. VATS was a suitable procedure for the operation. Between the parenchyma-saving resection and lobectomy for CCAM, we believe that the lobectomy is the better treatment option when the extent of the disease cannot be determined clearly or it is extremely large. Therefore, strategies for deciding between parenchyma-saving resection and lobectomy for the treatment of CCAM should be developed. PMID:23347706

  5. 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

  6. Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

    Science.gov (United States)

    Istek, Seref

    2014-01-01

    Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation. PMID:24898995

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

    Science.gov (United States)

    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; Mitchell, Michael E

    2012-05-01

    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 approach permitting CNV gene frequency "spectra" to be computed over prespecified regions to determine phenotype-gene dosage relationships was employed. CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were compared with two control groups, a disease-free cohort (n = 2,026) and a population with coronary artery disease (n = 880). Gains (?200 kb) and losses (?100 kb) were determined over 100 CHD risk genes and compared using a Barnard exact test. Six subphenotypes showed significant enrichment (P ? 0.05), including aortic stenosis (valvar), atrioventricular canal (partial), atrioventricular septal defect with tetralogy of Fallot, subaortic stenosis, tetralogy of Fallot, and truncus arteriosus. Furthermore, CNV gene frequency spectra were enriched (P ? 0.05) for losses at: FKBP6, ELN, GTF2IRD1, GATA4, CRKL, TBX1, ATRX, GPC3, BCOR, ZIC3, FLNA and MID1; and gains at: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, HRAS, GATA6 and RUNX1. Of CHD subjects, 14% had causal chromosomal abnormalities, and 4.3% had likely causal (significantly enriched), large, rare CNVs. CNV frequency spectra combined with precision phenotyping may lead to increased molecular understanding of etiologic pathways. PMID:22318994

  8. The frequency of genetic disease and congenital malformation among patients in a pediatric hospital

    Science.gov (United States)

    Scriver, C. R.; Neal, J. L.; Saginur, R.; Clow, A.

    1973-01-01

    A sample of 12,801 admissions to a pediatric hospital was surveyed in 1969-70 to determine the prevalence of disease which could be classified as “genetic” in origin or related to “congenital malformation”. “Genetic” admissions accounted for 11.1% of the total while 18.5% were for congenital malformations; about 2% (unknown group) were probably genetic. Therefore about one third of all admissions represent the effect of abnormal gene-environment interrelations at some point in the development or life of the patient. The “genetic” patient is admitted more often to a medical service while the patient with congenital malformation usually goes to a surgical service; the former stays 7.3 days and the latter 8.6 days. A disproportionate number of patients staying longer than 10 days were found in the group with congenital malformations. Seventy percent of the patients with multiple admissions (3.2% of all admissions) have genetic illness or congenital malformation. PMID:4704890

  9. 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

  10. Congenital malformations and death among the offspring of Danish pharmacy assistants

    DEFF Research Database (Denmark)

    Schaumburg, Inger; Olsen, J

    1990-01-01

    Congenital malformations, stillbirth, and infant mortality were studied in a cohort of all female pharmacy assistants in Denmark under the age of 40 years who were members of the national union in 1979 to 1984 (4,939). Data on all births and deaths during first year of life during the study period were identified through the national birth register. Information on type of work, exposures, and life-style variables were obtained by postal questionnaires, to which 93% responded. In general, pharmacy assistants had a low frequency of congenital malformation and death among their offspring. Compared with an internal reference group, pharmacy assistants engaged in production or packing of pharmaceutical products experienced an increased prevalence of congenital malformations among their offspring. Working with identification and controls showed a slightly increased risk of death during the first year of life of the children. This could indicate occupational risks, but other explanations cannot be excluded.

  11. 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

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

    OpenAIRE

    Kumar Basant; Agrawal Leela; Sharma Shyam

    2008-01-01

    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). Re...

  13. Congenital intrahepatic arterioportal and portosystemic venous fistulae with jejunal arteriovenous malformation depicted on multislice spiral CT

    Energy Technology Data Exchange (ETDEWEB)

    Chae, Eun Jin; Goo, Hyun Woo; Yoon, Chong Hyun [Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, 388-1 Poongnap2-dong, Songpa-gu, 138-736, Seoul (Korea); Kim, Seong-Chul [Department of Pediatric Surgery, Asan Medical Center, University of Ulsan College of Medicine, 138-736, Seoul (Korea)

    2004-05-01

    We report a symptomatic infant with very rare congenital arterioportal and portosystemic venous fistulae in the liver. Multislice CT after partial transcatheter embolisation revealed not only the complicated vascular architecture of the lesion, but also an incidental jejunal arteriovenous malformation which explained the patient's melena. The patient underwent ligation of the hepatic artery and resection of the jejunal arteriovenous malformation. Postoperative multislice CT clearly demonstrated the success of the treatment. (orig.)

  14. 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.

  15. Surveillance of congenital malformations in Belarus. Chernobyl aftermath

    International Nuclear Information System (INIS)

    Full text: In order to study possible genetic effects of the Chernobyl accident in human population a comparative analysis of the prevalence at birth of congenital malformations (CM) was performed on region and area administrative levels basing on the data of Belarus registry of CM permanently functioning since 1979. An attempt was made to evaluate dose dependence of the effects under study. We analyzed time trends of the prevalence at birth of 9 so called 'mandatory registered' nosologic units of CM. These group of CM could be easily diagnosed within the neonatal period and were assigned for registration at creation of the registry. Over 12 thousand cases registered within the period of 1981 to 2004 in 4 regions as well as about 3 thousand cases found in 47 rayons highly contrasting by radiation exposure were scrutinized. No long-term impact of the Chernobyl release on prevalence rates of surveyed CM was shown. Since the middle 80-s a similar steady increasing trend was observed as in contaminated, as in control areas with a tendency to stabilization after middle 90-s. We fail to reveal a dose dependence for CM prevalence rates calculated for the whole post-accidental period. Nonetheless, during the first years after the accident situation in contaminated areas was notably different from those in the control. Within the period of 1987 to 1989 a significant access of CM prevalence was registered in the strict radiological control area (Cs 137 soil contamination over 5rol area (Cs 137 soil contamination over 555 kBq/m2) as compared to non-contaminated zone. Relative risk was estimated as RR1987-1989 = 1.57 with 95% confidence interval being 95%CI = [1.29; 1.89]. Before the accident no difference in prevalence rates was marked (RR1981-1986 = 0.93; 95%CI = [0.80; 1.09]); nor it was evident in the farther post-accidental period (RR1990-2004 = 0.99; 95%CI = [0.80; 1.09]). Anomalies with high contribution of dominant de novo mutations (polydactyly, reduction defects of limbs and multiple CM) played principal role in the revealed increase. For this CM group a correlation with the estimated effective dose values was observed within the corresponding time period, no such relationship was marked for other analyzed CM, however. Analysis of the farther period failed to reveal a similar association for any group of CM under study. Thus, adverse effect of the Chernobyl accident on fetal development could not be excluded only within the first years after the accident. Peculiarity of the group of anomalies, chosen for the study, limits the impact of screening effect; however, it could not be completely ruled out because of ecological study design. Obtained results need to be confirmed in consecutive series of case-control and cohort studies. Extensive implementation of prophylactics of CM in the early 90-s made it possible to maintain the CM prevalence rates among newborns at the pre-accidental values. Currently over 30% of mandatory registered CM and about 20% of all CM in Belarus are registered among fetuses aborted for genetic reasons. Nevertheless, rather high level of CM prevalence in the republic insists farther improvement of the prophylactics of malformed children birth. For this purpose similar measures seems to be appropriate as for the residents of contaminated, as non-contaminated areas, since currently no substantial difference in time trends are traceable. The most perspective way of improvement of CM prenatal diagnostics is enlargement of the group of women that undergo ultrasound screening of I and II trimesters in specialized centers of prenatal diagnostics

  16. 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 SciELO Chile | Language: Spanish Abstract in spanish 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.

  17. 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.

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

    Directory of Open Access Journals (Sweden)

    Grill Franz

    2006-12-01

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

  19. 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 SciELO Brazil | Languages: English, Portuguese Abstract in portuguese 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 obser

  20. 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)

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

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Wan Tae; Kim, Mi Young; Shin, Hyun Ja [Korea Veterans' Hospital, Seoul (Korea, Republic of)

    2000-02-01

    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)

  2. Pediatric primary lung adenocarcinoma in the absence of congenital pulmonary airway malformation.

    Science.gov (United States)

    Guddati, Achuta K; Marak, Creticus P

    2012-12-01

    Primary lung adenocarcinoma is a rare entity in the pediatric population, especially in the absence of an underlying congenital pulmonary airway malformation. Primary lung malignancies in pediatric patients are rare and constitute 0.2% of all childhood malignancies. EGFR mutations and congenital airway malformations have been identified as etiological factors in the development of precancerous lesions that eventually progress to malignancy. The availability of genome sequencing and advanced imaging has made it possible to associate primary lung adenocarcinoma with mutations and structural malformations. Early diagnosis with the help of these techniques may result in surgical resection during early stages of the disease and possibly provide definitive treatment. Development of lung adenocarcinoma in pediatric patients in the absence of the above factors has been recorded anecdotally. It is possible that these patients may harbor a yet unknown set of mutations and recording this cases and preserving their tissues is of vital importance in the detection of these yet unknown etiologies. PMID:22447504

  3. Congenital umbilical arterio-venous malformation: a word of caution.

    Science.gov (United States)

    Gozar, Horea; Gozar, Liliana; Badiu, Catalin Constantin; Suciu, Horatiu

    2014-05-01

    We report on an 18-month old girl who presented in good clinical shape with a pulsatile tumour in the umbilical area which had a shape and localization similar to that of an umbilical bowel hernia. The Doppler ultrasound of the umbilical tumour revealed a large arterio-venous vascular malformation with a haemodynamically significant blood shunting. Furthermore, the inferior caval vein and the hepatic veins were dilated. Computed tomography angiography revealed permeable umbilical veins and arteries communicating within a large dilated arterio-venous fistula. The growing tumour was excised without any perioperative complications. Further postoperative recovery was uneventful and the baby was discharged 10 days after surgery. We advocate careful antenatal ultrasound evaluation of these vascular malformations. Early surgical removal in newborns is vital in order to avoid severe complications. PMID:24550232

  4. Clinical approach for the classification of congenital uterine malformations

    OpenAIRE

    Grimbizis, Grigoris F.; Campo, Rudi

    2012-01-01

    A more objective, accurate and non-invasive estimation of uterine morphology is nowadays feasible based on the use of modern imaging techniques. The validity of the current classification systems in effective categorization of the female genital malformations has been already challenged. A new clinical approach for the classification of uterine anomalies is proposed. Deviation from normal uterine anatomy is the basic characteristic used in analogy to the American Fertility Society classificat...

  5. Congenital absence of the portal vein associated with focal nodular hyperplasia of the liver and congenital heart disease (Abernethy malformation): A case report and literature review

    Science.gov (United States)

    HAO, YABIN; HONG, XU; ZHAO, XINYAN

    2015-01-01

    Abernethy malformation is a rare congenital malformation defined by an extrahepatic portosystemic shunt. The majority of affected patients are young (portosystemic shunt are presented. In addition, the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder are investigated by reviewing 101 previously reported cases. PMID:25624897

  6. 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.

  7. Visualization of morphological details in congenitally malformed hearts : virtual three-dimensional reconstruction from magnetic resonance imaging

    DEFF Research Database (Denmark)

    SØrensen, Thomas Sangild; Pedersen, Erik Morre

    2003-01-01

    In recent years, three-dimensional imaging has provided new opportunities for visualizing congenital cardiac malformations. We present the initial clinical experience using a recently implemented system, which employs some of new interactive, real-time, techniques. We show how three-dimensional rendering based on magnetic resonance imaging can provide detailed spatial information on both intrinsic and extrinsic cardiac relations, and hence how a virtual examination can potentially provide new means to a better understanding of complex congenital cardiac malformations.

  8. Tailored embolotherapy of congenital arteriovenous malformations, 1978-1986

    International Nuclear Information System (INIS)

    Since 1978, 20 patients have been evaluated with symptomatic arteriovenous malformations (AVM) involving the pelvis in seven, the leg in four, and the arm in nine. Fifteen patients had disabling symptoms, and arteriography defined the vascular anatomy, the means of access to the fistulae, and the transit time through the AVM. Treatment for the ten most symptomatic patients included injection of isobutylcyanoacrylate or particulate polyvinyl alcohol. All ten patients experienced dramatic reduction in flow and resolution of ulceration, bleeding, and pain over a mean follow-up period of 35 months. The author conclude that AVM embolization is highly effective for providing effective palliation and should be the therapy of choice

  9. 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.

  10. 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.

  11. 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 evidere 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

  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. 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.)

  14. 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)

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

    OpenAIRE

    Tan, Huay L.; Glen, Elise; To?pf, 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.

    2012-01-01

    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. On...

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

    International Nuclear Information System (INIS)

    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

  17. 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.

  18. Spontaneous abortions among rubber workers and congenital malformations in their offspring.

    Science.gov (United States)

    Lindbohm, M L; Hemminki, K; Kyyrönen, P; Kilpikari, I; Vainio, H

    1983-01-01

    Spontaneous abortions of hospitalized women and congenital malformations were analyzed among rubber workers to investigate the possibility of an association between reproductive problems and chemical exposures in the rubber industry. Information on workers was obtained from the membership register of the Union of Rubber and Leather Workers and from the personnel register of a rubber factory. The frequencies of spontaneous abortions did not appreciably differ when the pregnancies occurred during Union membership or during employment in the factory as compared with the pregnancies occurring before or after that time. A case-referent study concerning the association between different exposures and spontaneous abortions showed that the odds ratio for factory workers exposed to rubber chemicals was increased in the footwear department. A corresponding risk was not observed in the tire department. The contradictory observations may be explained by concomitant exposure to solvents in the footwear department or by other nonoccupational factors. The possible association between congenital malformations and exposures in the rubber and leather industries was studied by the case-referent technique. No significant increase in the risk of malformations was observed in any branch of employment. However, the numbers of malformations were rather small. PMID:6685340

  19. 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)

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

    Scientific Electronic Library Online (English)

    Julio, Nazer H; Teresa, Aravena C; Lucía, Cifuentes O.

    2001-08-01

    Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english 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. A [...] im: 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

  1. 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.

  2. 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.

  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. Natural history of adults with congenitally malformed aortic valves (unicuspid or bicuspid).

    Science.gov (United States)

    Roberts, William Clifford; Vowels, Travis James; Ko, Jong Mi

    2012-11-01

    Appreciation of the frequency of the congenitally malformed aortic valve has come about during the last 50 years, a period during which aortic valve replacement became a predictably successful operation. Study of patients at necropsy with either a congenitally unicuspid (1 true commissure) or bicuspid (2 true commissures) valve in whom no aortic valve operation has been performed has not been conducted during these 50 years, to our knowledge. We studied 218 patients at necropsy with congenitally malformed aortic valves: 28 (13%) had a unicuspid valve and 190 (87%), a bicuspid valve. Their ages at death ranged from 21 to 89 years (mean, 55 yr), and 80% were men. Of the 218 adults, the aortic valve functioned normally during life in 54 (25%) and abnormally in 164 (75%): aortic stenosis in 142 (65%), pure aortic regurgitation without superimposed infective endocarditis (IE) in 2 (1%), and IE superimposed on a previously normally functioning aortic valve in 20 (9%). IE occurred in a total of 31 (14%) of the 218 patients: involving a previously normally functioning valve in 20 (65%) and a previously stenotic valve in 11 (35%). Of the 218 patients, at least 141 (65%) died as a consequence of aortic valve disease (124 patients) or ascending aortic tears with or without dissection (17 patients). An estimated 1% of the population, maybe higher in men, has a congenitally malformed aortic valve. Data from this study suggest that about 75% of them will develop a major complication. Conversely, and encouragingly, about 25% will go through life without a complication. PMID:23117850

  5. Possible link between congenital uterine malformations and epitheliod trophoblastic tumor

    Directory of Open Access Journals (Sweden)

    Balint Farkas

    2012-09-01

    Full Text Available Background: Epitheloid trophoblast tumor (ETT is a tenuous type of gestational trophoblastic disease. Although clinically ETT behave in variable fashion, it is considered as a potentially malignant tumor, fatal malignancy occurs in 10% of the cases. Case and Conclusion: A 41 years old patient, who previously underwent Tompkins operation because of congenital uterine septum was admitted to our clinic due to irregular bleeding. Despite of serum hCG levels under the upper limit of normal, histopathology analysis of D&C obtained endometrial samples confirmed the presence of ETT by immunostainings. Henceforth we performed prompt abdominal hysterectomy and preserved the normal structured ovaries. According to the müllerianosis theory of endometriosis aberrant differentiation or migration could cause spreading of cells throughout the fetal organogenesis of the uterus. These cells in an apoptosis week environment might correlate with the initiation of ETT. As a conclusion we suggest further studies to assess the link between ectopic cells and ETT, to gain a better understanding in the pathomechanism of the tumor.

  6. Congenital heart malformations induced by hemodynamic altering surgical interventions

    Directory of Open Access Journals (Sweden)

    SandraRugonyi

    2014-08-01

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

  7. Neospora caninum and complex vertebral malformation as possible causes of bovine fetal mummification

    OpenAIRE

    Ghanem, Mohamed Elshabrawy; Suzuki, Toshihiko; Akita, Masashi; Nishibori, Masahide

    2009-01-01

    Bovine neosporosis, caused by Neospora caninum is a leading cause of abortion in cattle. We postulated that neosporosis could lead to fetal death and mummification. Fifteen mummified fetuses were tested by polymerase chain reaction (PCR) for the mutation in the bovine SLC35A3 gene that causes complex vertebral malformation (CVM) and the pNC-5 gene which identifies N. caninum infection. DNA was extracted from the mummified fetuses and the sex of the mummies was determined by PCR. The CVM mutat...

  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. 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.

  10. Congenital malformations in embryos of female mice exposed to alcohol and nicotinamide

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    Natasha Soares Simões dos Santos

    2009-03-01

    Full Text Available Objective: To compare the incidence of congenital malformations among the offspring of female mice exposed to alcohol or alcohol plus nicotinamide. Methods: Three groups of pregnant C57BL/6J mice were studied; G1 received alcohol (5 g/kg in saline solution (20% - vol/vol; G2 received nicotinamide, 50 mg/ml associated to alcohol; and G3, only saline solution; all by intraperitoneal injection on the seventh day of pregnancy. The animals were killed in a CO2 chamber on day 18 of pregnancy. The intrauterine content was assessed and the number of complete and reabsorbed fetuses was counted. The complete fetuses had their weight and crown-rump length measured and malformations were identified. Rresults: G1 showed the highest number of malformations: micrognathia, low set ears, hypertrophic nose, scoliosis, and atrophy of the lower and upper limbs. Weight was significantly different among the groups (p = 0.0139, and in G1 it was below average as compared to G3 (p = 0.3133. As for length, the lowest values were found in G2 and G3 showed the highest ones. There was a significant difference among the groups (p = 0.0145. Cconclusions: Ethanol, when administered to pregnant mice was teratogenic. However, length of G1 fetuses was, in average, higher than that of other groups. Nicotinamide decreased the number of malformations and may be a possible protector against alcohol effects.

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

    International Nuclear Information System (INIS)

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

  12. 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.

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

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    Serdar Serinsöz

    2009-01-01

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

  14. 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.

  15. Congenital malformation of the vaginal orifice, imperforate vagina, in the common marmoset (Callithrix jacchus).

    Science.gov (United States)

    Niimi, Kimie; Oguchi, Ayaka; Nishio, Kenji; Okano, Yasushi; Takahashi, Eiki

    2014-11-13

    The following is a report on a congenital vaginal malformation, imperforate vagina, in the common marmoset (Callithrix jacchus). This anomaly was observed for the first time in an adult female in our research colony. There was no uterine and vaginal aplasia or atresia in her grossly normal genital tract. The plasma progesterone concentration suggested that the ovarian cycle had ceased. However, this may not be related to a functional anomaly, but rather to suppressed ovulation resulting from subordination to cagemates considering the various stages of follicular development observed. PMID:25391536

  16. 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 ...

  17. Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.

    Science.gov (United States)

    Fukami, Maki; Ogata, Tsutomu

    2014-12-01

    Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a newly characterized disorder. PORD is caused by homozygous or compound heterozygous mutations in POR encoding an electron donor for several microsomal enzymes such as CYP21A2, CYP17A1, CYP19A1, CYP51A1, and CYP26A1-C1. Molecular defects of PORD include a Japanese founder mutation p.R457H, as well as various missense, nonsense, frameshift, and splice-site mutations and exonic deletions. PORD leads to unique skeletal malformations referred to as Antley-Bixler syndrome, in addition to 46,XX and 46,XY disorders of sex development, pubertal failure, adrenal dysfunction, and maternal virilization during pregnancy. Such clinical features are ascribable to impaired activities of the POR-dependent microsomal enzymes. PORD represents one form of congenital adrenal hyperplasia, although it can occur as a congenital malformation syndrome and a disorder of sex development. Phenotypic severity of PORD is highly variable and only partly depends on the residual activity of the mutant proteins. It is possible that PORD remains undiagnosed in several patients. Detailed hormonal assessment and molecular analysis are useful for diagnosis of PORD. PMID:25294558

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

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    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.

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

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    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.

  20. 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)

  1. Refletindo sobre a malformação congênita Refectindo sobre la malformación congénita Reflecting about congenital malformation

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    Rosângela da Silva Santos

    2005-10-01

    Full Text Available O estudo constituiu-se em uma revisão bibliográfica sobre malformações congênitas. Os objetivos consistem em fazer um levantamento da produção de enfermagem sobre o tema, apresentando as atuais contribuições referente às questões relacionadas as malformações congênitas e propiciar uma reflexão da atuação dos profissionais de enfermagem frente esta situação. Como resultados a revisão localizou estudos que foram categorizados em unidades temáticas: percepção materna, questões familiares, projeto de monitorização e assistência de enfermagem nas anomalias específicas. A conclusão aponta que a assistência adequada a ser prestada à criança com malformação congênita, demanda além de treinamento técnico, habilidade e sensibilidade da equipe multidisciplinar, o que a torna capaz de perceber e intervir na dimensão bio psicossocial e espiritual da criança e da família.Este estudio se constituye en una revisión bibliográfica sobre malformaciones congénitas. Los objetivos consisten en realizar un levantamiento de la producción de enfermería sobre el tema, presentando las actuales contribuciones referentes a los problemas relacionados a malformaciones congénitas y propiciar una reflexión de la actuación de los profesionales de enfermería frente a esta situación. La revisión nos dio como resultados diversos estudios, que fueron categorizados en las siguientes unidades temáticas: percepción materna, problemas familiares, proyecto de monitorización y asistencia de enfermería en las anomalías específicas. La conclusión muestra que la asistencia adecuada a ser brindada al niño con malformación congénita, demanda, además de entrenamiento técnico, habilidad y sensibilidad del equipo multidisciplinar, lo que le vuelve capaz de percibir e intervenir en la dimensión bio-psicosocial y espiritual del niño y de la familia.The study consisted in a bibliographical revision about congenital malformations. The objectives consist of making a survey of the nursing production about the subject, presenting the current referring contributions related to the questions of congenital malformations and to propitiate a reflection for the performance of nursing professionals when facing this situation. As results, the revision located studies that had been categorized in thematic units: mother perception, familiar questions, monitorization project and nursing care in the specific anomalies. The conclusion points out that the adequate assistance to be given to the child with congenital malformation, demands beyond technician training, ability and sensitivity of the multidisciplinary team, that becomes them capable to perceive and to intervent in the bio-psicossocial and spiritual dimension of the child and the family.

  2. Refletindo sobre a malformação congênita / Reflecting about congenital malformation / Refectindo sobre la malformación congénita

    Scientific Electronic Library Online (English)

    Rosângela da Silva, Santos; Iêda Maria Vargas, Dias.

    2005-10-01

    Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese O estudo constituiu-se em uma revisão bibliográfica sobre malformações congênitas. Os objetivos consistem em fazer um levantamento da produção de enfermagem sobre o tema, apresentando as atuais contribuições referente às questões relacionadas as malformações congênitas e propiciar uma reflexão da at [...] uação dos profissionais de enfermagem frente esta situação. Como resultados a revisão localizou estudos que foram categorizados em unidades temáticas: percepção materna, questões familiares, projeto de monitorização e assistência de enfermagem nas anomalias específicas. A conclusão aponta que a assistência adequada a ser prestada à criança com malformação congênita, demanda além de treinamento técnico, habilidade e sensibilidade da equipe multidisciplinar, o que a torna capaz de perceber e intervir na dimensão bio psicossocial e espiritual da criança e da família. Abstract in spanish Este estudio se constituye en una revisión bibliográfica sobre malformaciones congénitas. Los objetivos consisten en realizar un levantamiento de la producción de enfermería sobre el tema, presentando las actuales contribuciones referentes a los problemas relacionados a malformaciones congénitas y p [...] ropiciar una reflexión de la actuación de los profesionales de enfermería frente a esta situación. La revisión nos dio como resultados diversos estudios, que fueron categorizados en las siguientes unidades temáticas: percepción materna, problemas familiares, proyecto de monitorización y asistencia de enfermería en las anomalías específicas. La conclusión muestra que la asistencia adecuada a ser brindada al niño con malformación congénita, demanda, además de entrenamiento técnico, habilidad y sensibilidad del equipo multidisciplinar, lo que le vuelve capaz de percibir e intervenir en la dimensión bio-psicosocial y espiritual del niño y de la familia. Abstract in english The study consisted in a bibliographical revision about congenital malformations. The objectives consist of making a survey of the nursing production about the subject, presenting the current referring contributions related to the questions of congenital malformations and to propitiate a reflection [...] for the performance of nursing professionals when facing this situation. As results, the revision located studies that had been categorized in thematic units: mother perception, familiar questions, monitorization project and nursing care in the specific anomalies. The conclusion points out that the adequate assistance to be given to the child with congenital malformation, demands beyond technician training, ability and sensitivity of the multidisciplinary team, that becomes them capable to perceive and to intervent in the bio-psicossocial and spiritual dimension of the child and the family.

  3. Malformaciones congénitas y patología crónica de la madre.: Estudio ECLAMC 1971-1999 / Association between congenital malformations and chronic diseases of the mother

    Scientific Electronic Library Online (English)

    María Paz, Ordóñez A; Julio, Nazer H; Alfredo, Aguila R; Lucía, Cifuentes O.

    2003-04-03

    Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: Several maternal diseases, such as diabetes mellitus or high blood pressure, are associated with a higher risk for fetal or neonatal problems. Aim: To study the association between chronic diseases of the mother and congenital malformations. Material and methods: Review of the records of [...] the Latin American Collaborative Study of Congenital Malformations (ECLAMC) at the University of Chile Clinical Hospital. A sample of 383 mothers with a chronic disease was compared with 297 healthy mothers. The presence of congenital malformations in the newborns was studied. The odds ratio (OR) of a mother to have a child with a congenital malformation was calculated. Results: Mothers with bronchial asthma, diabetes mellitus, hypertension and hypothyroidism had an OR over 1 of having a child with a congenital malformation. No association between maternal obesity and offspring malformations was observed. Offspring of diabetic mothers had 8.95 times more probabilities of having a major malformation and 4.95 times more probabilities of having a minor defect. Conclusions: Offspring of mothers with diabetes mellitus, bronchial asthma, hypertension or hypothyroidism have a higher risk of presenting a congenital malformation, when compared with offspring of healthy mothers (Rev Méd Chile 2003; 131: 404-11).

  4. Malformaciones congénitas y patología crónica de la madre.: Estudio ECLAMC 1971-1999 Association between congenital malformations and chronic diseases of the mother

    Directory of Open Access Journals (Sweden)

    María Paz Ordóñez A

    2003-03-01

    Full Text Available Background: Several maternal diseases, such as diabetes mellitus or high blood pressure, are associated with a higher risk for fetal or neonatal problems. Aim: To study the association between chronic diseases of the mother and congenital malformations. Material and methods: Review of the records of the Latin American Collaborative Study of Congenital Malformations (ECLAMC at the University of Chile Clinical Hospital. A sample of 383 mothers with a chronic disease was compared with 297 healthy mothers. The presence of congenital malformations in the newborns was studied. The odds ratio (OR of a mother to have a child with a congenital malformation was calculated. Results: Mothers with bronchial asthma, diabetes mellitus, hypertension and hypothyroidism had an OR over 1 of having a child with a congenital malformation. No association between maternal obesity and offspring malformations was observed. Offspring of diabetic mothers had 8.95 times more probabilities of having a major malformation and 4.95 times more probabilities of having a minor defect. Conclusions: Offspring of mothers with diabetes mellitus, bronchial asthma, hypertension or hypothyroidism have a higher risk of presenting a congenital malformation, when compared with offspring of healthy mothers (Rev Méd Chile 2003; 131: 404-11.

  5. Case studies in X-ray diagnosis and clinical significance of congenital malformations of celiac trunk

    International Nuclear Information System (INIS)

    Case histories are presented of the most frequently occurring congenital malformations of truncus celiacus. In addition to the variations in the origin and the course of vessels of tripus Halleri, there are frequent hypoplasias of vessels and orficial compressions, caused by an anomalous course of ligamentum arcuatum. Attention is also drawn to the evaluation of the importance of vascular anomalies from the point of view of blood circulation changes detected by angiography, used until recently also in clinical practice. In the last years digital subtration angiography and ultrasonography in combination with the method of duplex scanning-excercise Doppler, replace classical abdominal angiography and objectively image regional hypoperfusion of organs in cases of clinically uncertain abdominal symptomatology. (author). 7 figs., 15 refs

  6. 16q subtelomeric deletion in proband with congenital malformations and mental retardation.

    Science.gov (United States)

    Vorsanova, S G; Yurov, Y B; Kolotii, A D; Demidova, I A; Novikova, I M

    2000-01-01

    We present a female child with mild mental retardation and congenital malformations. After fluorescence in situ hybridization (FISH) we found only abnormal karyotype in all cells. We used rapid FISH and original DNA probes--PAC62.10.1 and PAC20.19.N, specific for segments of chromosome 16q24. Karyotype of proband 46,XX.ish del(16)(q24.2:) (PAC20.19.N,PAC62.10.1-). Parent karyotypes are normal. This case may suggest the presence of clinical picture 16q- with defined clinical polymorphism at small telomeric loss, and also its necessary of the use of molecular-cytogenetic techniques in genetic departments. PMID:11394378

  7. 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.

    1293-12-01

    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

  8. Computer tomography for congenital malformation, and inflammatory and degenerative changes of spine

    International Nuclear Information System (INIS)

    Technical improvements and the use of intrathecal Metrizamide have made computer tomography of the spine a valuable diagnostic method. The value of CT in demonstrating morphological changes in the spine was investigated in 77 examinations of congenital malformation or inflammatory and degenerative disease. Measurements of the spinal canal provide more accurate information than conventional radiology and these are discussed. Intradural injection of contrast medium makes it possible to diagnose abnormalities of the cord by means of CT. Inflammatory changes in the spine and in the paraspinal soft tissues are shown at an early stage. A diagnosis of tumour can be confirmed by CT-controlled needle biopsy. It is usually possible to demonstrate disc prolapse without the use of contrast medium. On the other hand, the investigation of pain following disc operations remains a difficult problem. (orig.)

  9. 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. Accoregnant 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)

  10. 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

  11. Use of ondansetron during pregnancy and congenital malformations in the infant.

    Science.gov (United States)

    Danielsson, Bengt; Wikner, Birgitta Norstedt; Källén, Bengt

    2014-12-01

    The study investigates teratogenic risks with ondansetron (Zofran(®)). Data from the Swedish Medical Birth Register combined with the Swedish Register of Prescribed Drugs were used to identify 1349 infants born of women who had taken ondansetron in early pregnancy, 1998-2012. Presence of congenital malformations in the offspring was identified with three national health registers. In a Mantel-Haenszel analysis adjustment was made for year of delivery, maternal age, parity, smoking in early pregnancy and pre-pregnancy body mass index. Risks were expressed as odds or risk ratios with 95% confidence intervals. No statistically significantly increased risk for a major malformation was found. The risks for a cardiovascular defect and notably a cardiac septum defect were increased and statistically significant (OR=1.62, 95% CI 1.04-2.14, and RR 2.05, 95% CI 1.19-3.28, respective). The teratogenic risk with ondansetron is low but an increased risk for a cardiac septum defect is likely. PMID:25450422

  12. Comparing Late-onset and Neonatally-diagnosed Congenital Cystic Adenomatoid Malformation of the Lung

    Directory of Open Access Journals (Sweden)

    Sui-Ling Liao

    2010-02-01

    Full Text Available Background: Most congenital cystic adenomatoid malformations (CCAM are found inutero or during the immediate neonatal period. Some malformations regressin utero, while others persist and remain unnoticed until later in childhood.The optimal clinical management of patients with CCAM is controversial.The aim of this study is to suggest a safe strategy for treatment of CCAMbased upon the age of the patient at diagnosis, by analyzing the clinical featuresof CCAM and considering the possibility of regression in early infancy.Method: This is an observational retrospective study of 19 patients with CCAM. Theclinical features, histopathological classification, status of lesion regression,diagnostic method, treatment, and outcome were collected. Patient data wereanalyzed highlighting age at disease presentation.Results: Five out of the seven neonates with neonatally-diagnosed CCAM presentedwith respiratory distress. Eight of the twelve patients in the late-onset grouphad respiratory tract infections. Regression of the lesion during the earlypostnatal period was documented in 4 neonatally-diagnosed CCAMs, whilenone of the patients in the late-onset group showed signs of radiographicchanges after a mean follow up of 4 years. Skeletal malformation was themost common associated anomaly in our series.Conclusion: Conservative treatment is suggested for neonatally-diagnosed CCAMbecause of possible postnatal remission. Surgery may be required in olderpatients because of possible recurrent infections, infrequent mass regression,radiation exposure, and inconveniencies during follow-up visits. A thoroughsurvey of possible associated skeletal anomalies in patients with CCAM isalso recommended as early correction can improve life quality.

  13. 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.

  14. No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations.

    Science.gov (United States)

    Winberg, Johanna; Berggren, Håkan; Malm, Torsten; Johansson, Sune; Johansson Ramgren, Jens; Nilsson, Boris; Liedén, Agne; Nordenskjöld, Agneta; Gustavsson, Peter; Nordgren, Ann

    2015-03-01

    The aim of this study was to investigate if pathogenic copy number variations (CNVs) are present in mosaic form in patients with congenital heart malformations. We have collected cardiac tissue and blood samples from 23 patients with congenital heart malformations that underwent cardiac surgery and screened for mosaic gene dose alterations restricted to cardiac tissue using array comparative genomic hybridization (array CGH). We did not find evidence of CNVs in mosaic form after array CGH analysis. Pathogenic CNVs that were present in both cardiac tissue and blood were detected in 2/23 patients (9%), and in addition we found several constitutional CNVs of unclear clinical significance. This is the first study investigating mosaicism for CNVs in heart tissue compared to peripheral blood and the results do not indicate that pathogenic mosaic copy number changes are common in patients with heart malformations. Importantly, in line with previous studies, our results show that constitutional pathogenic CNVs are important factors contributing to congenital heart malformations. PMID:25652018

  15. Congenital cystic adenomatoid malformation of fetus: manifestations and diagnosis of MRI

    International Nuclear Information System (INIS)

    Objective: To demonstrate the MRI manifestations of congenital cystic adenomatoid malformation (CCAM) and to evaluate the diagnostic value of MRI. Methods: Thoracic axial, sagittal and coronal plane scanning were performed with SSFSE in 9 fetuses diagnosed or suspected of CCAM by ultrasound(US) within 1-2 days after US examination. The diagnosis was confirmed by postnatal autopsy or follow-up. Results: In nine fetuses, seven cases of CCAM were diagnosed with MRI and confirmed by autopsy, one case was congenital pulmonary sequestration, one was normal on MRI and two weeks late US. In seven cases of CCAM (5 males and 2 females), four cases were in the right side, three in the left. Four cases of macrocystic type CCAM showed single or multiple cystic long T2 signal in the unilateral lung, three cases of microcystic type CCAM presented long T2 signal without cyst. Vessels with flow void phenomenon were found in 2 cases of CCAM and 1 case of pulmonary sequestration. Conclusion: MRI can clearly show the location, range and contour of CCAM. The vessel originated from the aorta is suggestive of pulmonary sequestration. (authors)

  16. 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

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

    Scientific Electronic Library Online (English)

    Mariana, Rojas; Laura, Walker.

    1256-12-01

    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.

  18. Abnormalities of the spleen in relation to congenital malformations of the heart: a survey of necropsy findings in children.

    OpenAIRE

    Anderson, C.; Devine, W. A.; Anderson, R. H.; Debich, D. E.; Zuberbuhler, J. R.

    1990-01-01

    A series of 1042 reports of necropsies on children dying at Children's Hospital of Pittsburgh was reviewed. In each case, note was taken of the status of the spleen, the lobation of the lungs, the arrangement of the bronchi, the morphology of the atrial appendages, and the presence of any congenital malformations of the heart and great vessels and of any malformations of the abdominal organs. There was isomerism of the left atrial appendages in eight (0.77%), 13 (1.25%) showed isomerism of th...

  19. Mortalidad infantil por malformaciones congénitas en Argentina: análisis del quinquenio 2002-2006 / Analysis of infant mortality from congenital malformations in Argentina during the 2002-2006 period

    Scientific Electronic Library Online (English)

    Rubén, Bronberg; Emma, Alfaro; Estela, Chaves; José, Dipierri.

    2009-06-01

    Full Text Available Objetivo. Analizar la distribución espacial y temporal de la mortalidad infantil por malformaciones congénitas en la Argentina entre 2002-2006. Materiales y métodos. Los datos provinieron del Ministerio de Salud. Las malformaciones congénitas se clasificaron según la Clasificación Internacional de E [...] nfermedades, décima revisión. Se calcularon por departamentos, provincias y regiones, componentes de la mortalidad infantil (neonatal precoz y tardía y postneonatal), subconjuntos de malformaciones congénitas y malformaciones específicas: a) porcentaje de muertes por malformaciones congénitas; b) tasa de mortalidad infantil por malformaciones congénitas. Ambos indicadores se correlacionaron con la latitud/longitud departamental. Resultados. La tasa de mortalidad infantil por malformaciones congénitas fue de 3,33‰ y el porcentaje de muertes por malformaciones congénitas de 22,7%. Ambos indicadores exhibieron gran variabilidad espacial y no se correlacionaron con latitud/longitud. La tasa de mortalidad infantil por malformaciones congénitas y el porcentaje de muertes por malformaciones congénitas más bajos se presentaron en Patagonia y Noroeste argentinos respectivamente. El período neonatal precoz presentó la tasa de mortalidad infantil por malformaciones congénitas más altas y el porcentaje de muertes por malformaciones congénitas superó el 20% en los 3 períodos. El Noroeste y el Noreste argentino presentaron el porcentaje de muertes por malformaciones congénitas más bajos en los tres componentes de la mortalidad. Conclusiones. El patrón de mortalidad infantil por malformaciones congénitas de la Argentina es semejante al de países desarrollados caracterizándose por una disminución de la tasa de mortalidad infantil por malformaciones congénitas y aumento del porcentaje de muertes por malformaciones congénitas con una contribución preponderante de las malformaciones congénitas cardíacas y del sistema nervioso. Abstract in english Objective. To analyze the trend and spatial distribution of infant mortality from congenital malformations in Argentina between 2002 and 2006. Materials and methods. Data were provided by the Ministry of Public Health. Congenital malformations were classified according to the International Clasifica [...] tion of Diseases, 10th revision. Early neonatal, late neonatal and postneonatal infant mortality components, congenital malformations subgroups and specific malformations were estimated by departments, provinces, and regions to determine: a) Congenital malformations- related death rate; b) infant mortality rate due to congenital malformations. Both indicators were correlated with the respective departmental latitude/longitude. Results. Infant mortality rate due to congenital malformations was 3,33‰ and congenital malformations- related death rate 22,7%. Both indicators showed great spatial variability and did not correlate to latitude/longitude. The lowest infant mortality rate due to congenital malformations and congenital malformations-related death rates were found in Patagonia and the Argentine northeast, respectively. The early neonatal period showed the highest infant mortality rate due to congenital malformations and congenital malformations-related death rates was over 20% in the 3 periods. The Argentine northwest and Argentine northeast showed the lower congenital malformations rates-related death rates in the three components than Centro, Cuyo and Patagonia. Conclusions: The pattern of infant mortality from congenital malformations in Argentina is similar to that of developed countries, characterized by a decrease of infant mortality rate due to congenital malformations and increase of congenital malformations-related death rates, with a prevailing contribution of heart and nervous system malformations.

  20. 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.

  1. Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis.

    Science.gov (United States)

    Thomas, Mark; Salpietro, Vincenzo; Canham, Natalie; Ruggieri, Martino; Phadke, Rahul; Kinali, Maria

    2015-04-01

    Mitochondrial DNA depletion syndromes are an important cause of mitochondrial cytopathies in both children and adults. We describe a newborn with multiple congenital malformations including a right aberrant subclavian artery and a trachea-oesophageal fistula in whom mitochondrial depletion syndrome was unmasked by perioperative muscle relaxation. After vecuronium infusion, the infant developed an irreversible postoperative paralysis, leading to death 32 days after surgery. The present case highlights (a) the clinical heterogeneity of mitochondrial depletion syndrome; (b) the importance of rigorous antemortem and postmortem investigations when the cause of a severe myopathy is uncertain; (c) the possible coexistence of mitochondrial depletion syndrome and congenital malformations as a result of a likely abnormal antenatal embryofetal development and (d) the importance of a careful anaesthetic management of children with mitochondrial depletion syndrome, which could be prone to complications related to the possible depressive effects on mitochondrial electron transport chain mediated by some anaesthetic agents. PMID:24789116

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

    Directory of Open Access Journals (Sweden)

    Antônio Flávio M Dantas

    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 Norte. 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.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 Grande, 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 immunohistochemistry to bovine viral diarrhea virus. Malformations caus

  3. 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.

  4. Spirosolane-containing Solanum species and induction of congenital craniofacial malformations.

    Science.gov (United States)

    Keeler, R F; Baker, D C; Gaffield, W

    1990-01-01

    Comparison by GC analysis of purified alkaloid extracts of Solanum species revealed no measurable free solasodine, other spirosolanes, or any non-spirosolane steroidal alkaloid aglycones in unhydrolyzed total alkaloid fractions of fruit of Solanum elaeagnifolium Cav. (silverleaf nightshade), Solanum sarrachoides (S. villosum Lam.--hairy nightshade), Solanum dulcamara L. (European bittersweet nightshade) or Solanum melongena L. (eggplant). All alkaloidal material was apparently present as glycoside. Conversely, sprouts of Solanum tuberosum L. (potato) contained 67% of its alkaloids as glycosides, which was freed only upon hydrolysis with the remaining 33% present as free solanidine. GC/MS analysis of hydrolysates of purified extracts of the test Solanum species revealed that solasodine was a principal or sole aglycone of the alkaloid glycosides in each of the test species except Solanum tuberosum. In the latter, solanidine was the sole aglycone. Among the test species, exclusive of S. tuberosum, only S. dulcamara contained aglycones other than solasodine. In addition to solasodine, S. dulcamara contained appreciable amounts of an unknown spirosolane, an aglycone provisionally identified as soladulcidine. The induction of congenital craniofacial malformations in hamsters by high oral doses of the four Solanum species that contained mainly solasodine glycosides--S. elaeagnifolium, S. dulcamara, S. sarrachoides and S. melongena was compared to inductions of malformations by Solanum tuberosum, that contained mainly solanidane glycosides. Compared to controls, Solanum elaeagnifolium and Solanum dulcamara fruit both induced a high percentage incidence of deformed litters (20.4 and 16.3, respectively) that was statistically significant (P less than 0.001 level) while percentage incidence of deformed litters induced by Solanum sarrachoides and Solanum melongena fruit (9.5 and 7.6 respectively) were both higher than controls (3.4%), in neither case was the incidence statistically significant (P less than .05). Deformed litter incidence induced by sprouts of Solanum tuberosum was 24.0%, (P less than 0.001). PMID:2080514

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

    International Nuclear Information System (INIS)

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

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

    OpenAIRE

    Polyakov Marina; Bilenko Natasha; Belmaker Ilana; Hershkovitz Reli; Kordysh Ella; Bentov Yaakov; Sarov Batia

    2006-01-01

    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 regio...

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

    OpenAIRE

    Selvaraj Priya; Selvaraj Kamala; Agrawal Megha; Singh Gunjan

    2010-01-01

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

  8. 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 SciELO Brazil | Language: Portuguese Abstract in portuguese 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 hypo

  9. Prevalence of congenital malformations in the vicinity of nuclear plants: data from the Central-East France registry

    International Nuclear Information System (INIS)

    To study the prevalence of malformations around the nuclear power plants in the Rhone-Alps region and compare it with their distribution in other parts of the region monitored by the registry. Methods: Municipalities with fewer than 50,000 inhabitants surrounding the 5 nuclear plants in operation from 1979 through 2002 were studied. Every municipality situated near a nuclear site (n=121) was assigned an exposure index, which we estimated from the distance between the municipality and the plant. A Poisson model and a reference population, defined as the 2154 municipalities in the region situated farther than 10 km from a nuclear plant were used to calculate relative risks for congenital malformations, after adjustment for year of birth, maternal age, district of birth, population density, average family income, and presence of chemical plants subject to E U Seveso regulations. Results: Significant differences were not observed for either gene/chromosome anomalies (p=0.50) or minor malformations (p=0.14). Risks for overall malformations and those defined as major non-syndromic appear to be reduced in areas less than 5 km from nuclear plants (RR=0.75 and RR=0.71, respectively). The only comparison showing a higher rate of malformations in populations living near nuclear sites involved rural communities situated 5 to 10 km from a plant (RR=1.41 for the major non-syndromic malformations and 1.31 for all malformations). Conclusion: These results may be random or may be explThese results may be random or may be explained by exposure to the plants, but a more likely explanation is the existence of confounding factors for which we could not adjust, such as road traffic for urban communities and pesticides in rural ones. (author)

  10. 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 tified 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

  11. 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.

  12. 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

  13. Congenital Malformations among the Offspring of Danish Survivors of Childhood Cancer and their Siblings-Interim Results

    International Nuclear Information System (INIS)

    Survival is now the norm for children treated with radiotherapy and chemotherapy for childhood cancers. These children are now living to have children of their own. A Danish study of adverse health outcomes in the offspring of childhood cancer survivors and the offspring of the cancer survivor's sibling is ongoing. The cumulative probability of congenital malformation is non significantly higher amongst the offspring of cancer survivors than amongst the offspring of cancer survivor's siblings; and non significantly higher amongst the offspring of cancer survivors who received radiotherapy treatment compared with those who did not. future analyses will incorporate radiation dose to the uterus and gonads of cancer survivors. To date, studies of childhood cancer survivors offspring have not indicated and excess of congenial malformation. (Author) 7 refs

  14. Surgical repair of congenital mitral valve malformations / Reparación quirúrgica de las malformaciones congénitas de la válvula mitral

    Scientific Electronic Library Online (English)

    Pedro, Curi-Curi; Samuel, Ramírez-Marroquín; Jorge, Cervantes-Salazar; Mauricio, Soulé; Julio, Erdmenger; Juan, Calderón-Colmenero.

    2010-06-01

    Full Text Available SciELO Mexico | Language: English Abstract in spanish El desarrollo de las técnicas de plastía mitral en el paciente pediátrico ha sido lento debido a la gran variabilidad de presentación de las lesiones mitrales congénitas, y al poco conocido efecto del crecimiento sobre el complejo aparato valvular mitral. El objetivo de este estudio fue revisar nues [...] tra experiencia institucional en el corto y mediano plazo en la reparación quirúrgica de las valvulopatías mitrales congénitas. En forma retrospectiva se estudió una serie de 14 pacientes operados de reparación quirúrgica por valvulopatía mitral congénita en un lapso de cinco años. Se realizó seguimiento clínico y ecográfico en todos los casos a los 25 meses en promedio. La morbilidad operatoria de la serie fue de 77% y la mortalidad operatoria de 7%. No hubo mortalidad tardía. En el mediano plazo, la capacidad funcional mejoró en 73% de los sobrevivientes y se mantuvo en 27%. El índice de sobrevida libre de re-operación para cambio valvular por falla de la plastía mitral fue de 84% a los 30 días y de 77% a los 3.5 años. La reparación valvular mitral en el paciente pediátrico es probablemente la técnica de elección en el tratamiento quirúrgico de la patología valvular mitral congénita, y la ecocardiografía transesofágica intraoperatoria debe ser considerada como una herramienta altamente recomendable para evaluar los resultados. Abstract in english Surgical development of mitral valve repair techniques in pediatric patients has been slow because of the great variety in the presentation of congenital mitral valve malformations and the still unknown growing effect over the complex mitral valve apparatus. The aim of this study is to review our ea [...] rly an mid-term institutional outcomes in surgical repair of congenital mitral valve malformations. We studied retrospectively 14 patients with surgical repair of congenital mitral valve malformations in a 5 year period. Clinical and echocardiographic follow-up at a mean of 25 months was performed in all cases. Operative morbidity was 77% and operative mortality 7%. There were no late deaths. Clinical functional class stratification at the mid-term improved in 73% of survivors and did not change in the remaining 27%. Freedom from reoperation for mitral valve prosthetic replacement due to mitral valve repair failure was 84% at 30 days and 77% at 3.5 years. Surgical repair is probably the best technique option in the treatment of congenital malformations of the mitral valve, and transesophageal intraoperatory echocardiography must be highly recommended for evaluation of results.

  15. 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 SciELO Brazil | Languages: English, Portuguese, Spanish Abstract in portuguese 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

  16. Transarterial embolization of congenital pelvic arteriovenous malformation in a male (a case report and review of the literature)

    International Nuclear Information System (INIS)

    A case of congenital pelvic arteriovenous malformation in a 41-years-old male treated by successful transarterial embolization was reported. This patient suffered from adult polycystic kidney disease and unknown reason for gross hematuria for four years. His left kidney was resected one year ago for suspected left nephrorrhagia but the hematuria remained. MRI examination of pelvis demonstrated AVM involving extensively the pelvic soft tissue, bladder and seminal vesicles. Bilateral internal iliac arterial angiography by DSA showed congenital pelvic arteriovenous malformations (CPAVM), the fringy anisotrophy vascular plexus supplied by many feeding arteries and drained into bilateral dilated and tortuous internal iliac venous branches. Super-selective catheterization and embolization for eight supplying blood branches, such as bilateral internal pudendal arterial branches, right obturator arterial branches, fight inferior gluteal arterial branches, left superior vesical artery, left inferior vesical artery, spermatocyst artery and right lateral sacral artery etc, were carried out successfully with gelfoam sponge or PVA particulates in one time. His urine turned clear on the same day after arterial embolization, and no gross hematuria occurred during 6-months follow-up. The pelvic arterial angiography with embolization is extremely effective for the diagnostic and therapeutic measure of CPAVM. (authors)

  17. Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study

    OpenAIRE

    Obu Herbert A; Chinawa Josephat M; Uleanya Nwachinemere D; Adimora Gilbert N; Obi Ikechukwu E

    2012-01-01

    Abstract Background Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place. Many a time the exact etiology is unknown but genetic and environmental factors tend to be implicated. Methods The objective of this study was to determine the prevalence of congenital malformations among newborns admitted in a tertiary hospital in Enugu, the nature of these abnormalitie...

  18. 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 SciELO Portugal | Language: Portuguese Abstract in portuguese 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.

  19. Unusual facies, arthrogryposis, advanced skeletal maturation and unique bone changes. A new congenital malformation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Jequier, S.; Kozlowski, K.

    1987-07-01

    Two strikingly similar infant siblings showed the following pattern of anomalies: unusual cranio-facial appearance, arthrogryposis, advanced bone age of the hips and unique skeletal X-ray abnormalities. They represent a previously unrecognised, fatal malformation syndrome.

  20. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

    OpenAIRE

    Garrido-allepuz, Carlos; Haro, Endika; Gonza?lez-lamun?o, Domingo; Marti?nez-fri?as, Mari?a Luisa; Bertocchini, Federica; Ros, Mari?a A.

    2011-01-01

    Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced b...

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

    Scientific Electronic Library Online (English)

    Hylas Paiva da Costa, Ferreira; Gilberto Bueno, Fischer; José Carlos, Felicetti; José de Jesus Peixoto, Camargo; Cristiano Feijó, Andrade.

    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 pacient [...] es 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. Abstract in english 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 patie [...] nts 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.

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

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    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 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 prospectiva 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 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 < 0.05 was used for the statistical analysis. RESULTS: During the period of evaluation, 330 patients were hospitalized for the first time in the ICU, but thirty of them did not participate in the study. Of the 300 patients that constituted the final sample, OAVS was verified in 3 cases (1%. All presented normal cytogenetic studies. CONCLUSION: OAVS seems to be a frequent condition among patients with CHDs. However, we cannot exclude the possibility that the frequency of OAVS found in our study might have been underestimated due to the low rate of prenatal detection of CHDs and the limited access of patients to appropriate health care in our region. Future prospective studies with well defined clinical criteria and subjects with mild and major defects will be important to assess the role of OAVS in the general population of subjects with heart malformations.

  3. 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

  4. "Congenital cystic adenomatoid malformation of the lung associated with mediastinal shift "

    OpenAIRE

    Pourissa M; Refahi S

    2001-01-01

    Congenial cystic adenomatoid malformation of the lung (CCAML) is a rare lesion and is characterized by a multicystic mass of pulmonary tissue with an abnormal proliferation of bronchial structures. We report a case of CCAML type I presenting with heart displacement that was diagnosed prenatally.

  5. Molecular studies of the congenital malformation induced by Largehead Atractylodes Rhizome, the most commonly used Chinese medicine for threatened miscarriage.

    Science.gov (United States)

    Tang, L Y; Li, L; Borchert, A; Lau, Clara B S; Leung, P C; Wang, C C

    2012-12-01

    Largehead Atractylodes Rhizome (LAR) is the most commonly used Chinese herbal medicine for threatened miscarriage. Potential reproductive toxicity of LAR was identified in early pregnancy in animals. Skeletal anomalies including loss of ulna and distal digits, shortening of humerus and radius were observed in higher clinical dose groups. Here, we aimed to study the molecular mechanism of the congenital malformation induced by LAR. In vitro whole mouse embryo culture was used to confirm the embryotoxicity effects of LAR on developing limb buds during early organogenesis. A pregnant mouse model was employed to study the developmental gene expression by quantitative PCR and whole hybridization and apoptosis by terminal deoxynucleotidyl transferase dUTP nick end labeling staining, in the forelimbs and hindlimbs during development in vivo. Severe growth retardation, multiple embryonic malformations and delayed limb bud development were observed. Limb-specific Tbx gene expressions in both developing forelimbs and hindlimbs were significantly decreased. Increased developmental apoptosis in apical ectodermal ridge and mesenchymal mesoderm of the developing limb buds was identified. Overexpressions of Tbx2 and Tbx3 in embryos in vitro rescued LAR-induced abnormal limb development and reduced apoptosis in the developing forelimb buds. In conclusion, LAR affects limb development by suppressing the expression of limb developmental genes and disturbing programmed cell death during limb formation in mice. PMID:22907872

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

    Scientific Electronic Library Online (English)

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

    1994-12-01

    Full Text Available SciELO Brazil | Language: English Abstract in spanish Estudiamos aspectos clínicos e del EEG de 36 casos de malformaciones congénitas del sistema nervioso central. Los pacientes fueron seguidos en los consultorios externos del Hospital Cayetano Heredia y del Hogar Clínica San Juan de Dios en Lima-Peru, desde enero 1984 hasta junio 1992. Ochenta por cie [...] nto de los pacientes presentaron sindrome convulsivo y retardo mental. La anormalidad mas frecuente correspondió a agenesia de cuerpo calloso y no fue posible identificar un patron EEG "típico". El segundo lugar correspondió a quistes porencefálicos, con buena correlación clínico-EEG. Ademas, hubieron dos casos clínicamente típicos de esquizencefalia, una hemimegalencefalia con buen prognóstico y un caso de holoprosencefalia. Se comparan los resultados con aquellos de casos previamente revisados. Se discuten los dados frente a la literatura acerca de los patrones EEG mas frecuentemente relatados. Se concluye en la utilidad del EEG en países en desarrollo para hacer posible un alto grado de sospecha de una malformación del SNC aun en ausencia de CAT-scan. Abstract in english 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 sy [...] ndromes 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 good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.

  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 he meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use. (orig.)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-05-15

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

  9. 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.

  10. Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile (1988-1998) / Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile

    Scientific Electronic Library Online (English)

    Alfredo, Aguila R; Julio, Nazer H; Lucía, Cifuentes O; Paola, Mella A; Pedro, de la Barra H; David, Gutiérrez T.

    2000-02-01

    Full Text Available [...] Abstract in english Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To st [...] udy the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

  11. Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile (1988-1998 Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile

    Directory of Open Access Journals (Sweden)

    Alfredo Aguila R

    2000-02-01

    Full Text Available Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To study the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

  12. Radiologic aspects of the congenital arteriovenous malformations, Klippel-Trenaunay type, and Servelle-Martorell type

    International Nuclear Information System (INIS)

    In our study 13 patients with a Klippel-Trenaunay type and 7 patients with a Servelle-Martorell type of arteriovenous malformations were analyzed. The results demonstrate that these 2 entities can be differentiated by routine radiography. The Klippel-Trenaunay type of angiodysplasia does not need arteriography, whereas arteriography as well as phlebography are necessary in the Servelle-Martorell type of angiodysplasia, in order to show ectatic regions of the involved vessels. The differentiation between the above mentioned arteriovenous malformations and the F.P. Weber type of angiodysplasia is easy. In the F.P. Weber type of angiodysplasia a lengthening of the involved extremity, arteriovenous shunts, as well as alterations of the bone are characteristic. (orig.)

  13. Prevalence of congenital malformations in the vicinity of nuclear plants: data from the Central-East France registry; Prevalence des malformations congenitales autour des centrales nucleaires/ utilisation des donnees du registre France Centre-Est

    Energy Technology Data Exchange (ETDEWEB)

    Gautheron, S.; Laborier, J.C.; Robert-Gnansia, E. [Institut Europeen des Genomutations, 69 - Lyon (France); Chevrier, C. [Rennes Univ., Institut National de la Sante et de la Recherche Medicale (INSERM) U625, 35 (France)

    2005-05-15

    To study the prevalence of malformations around the nuclear power plants in the Rhone-Alps region and compare it with their distribution in other parts of the region monitored by the registry. Methods: Municipalities with fewer than 50,000 inhabitants surrounding the 5 nuclear plants in operation from 1979 through 2002 were studied. Every municipality situated near a nuclear site (n=121) was assigned an exposure index, which we estimated from the distance between the municipality and the plant. A Poisson model and a reference population, defined as the 2154 municipalities in the region situated farther than 10 km from a nuclear plant were used to calculate relative risks for congenital malformations, after adjustment for year of birth, maternal age, district of birth, population density, average family income, and presence of chemical plants subject to E U Seveso regulations. Results: Significant differences were not observed for either gene/chromosome anomalies (p=0.50) or minor malformations (p=0.14). Risks for overall malformations and those defined as major non-syndromic appear to be reduced in areas less than 5 km from nuclear plants (RR=0.75 and RR=0.71, respectively). The only comparison showing a higher rate of malformations in populations living near nuclear sites involved rural communities situated 5 to 10 km from a plant (RR=1.41 for the major non-syndromic malformations and 1.31 for all malformations). Conclusion: These results may be random or may be explained by exposure to the plants, but a more likely explanation is the existence of confounding factors for which we could not adjust, such as road traffic for urban communities and pesticides in rural ones. (author)

  14. 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.

  15. 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 SciELO Cuba | Language: Spanish Abstract in spanish 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.

  16. 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.

  17. 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.

    1150-11-01

    Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] 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.

  18. Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

    Science.gov (United States)

    Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A; Sykiotis, Gerasimos P; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valérie; Lefebvre, Hervé; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; Mohammadi, Moosa; de Roux, Nicolas; Pitteloud, Nelly

    2014-11-13

    Purpose:Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two.Methods:We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by sequence- and structure-based predictions and/or functional assays.Results:We identified eight probands with CHH with (n = 3; Kallmann syndrome) or without anosmia (n = 5) and SHFM, seven of whom (88%) harbor FGFR1 mutations. Of these seven, one individual is homozygous for p.V429E and six individuals are heterozygous for p.G348R, p.G485R, p.Q594*, p.E670A, p.V688L, or p.L712P. All mutations were predicted by in silico analysis to cause loss of function. Probands with FGFR1 mutations have severe gonadotropin-releasing hormone deficiency (absent puberty and/or cryptorchidism and/or micropenis). SHFM in both hands and feet was observed only in the patient with the homozygous p.V429E mutation; V429 maps to the fibroblast growth factor receptor substrate 2? binding domain of FGFR1, and functional studies of the p.V429E mutation demonstrated that it decreased recruitment and phosphorylation of fibroblast growth factor receptor substrate 2? to FGFR1, thereby resulting in reduced mitogen-activated protein kinase signaling.Conclusion:FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM because the likelihood of a mutation increases from 10% in the general CHH population to 88% in these patients.Genet Med advance online publication 13 November 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.166. PMID:25394172

  19. Congenital malformations in Rio de Janeiro, Brazil: prevalence and associated factors Malformações congênitas no Município do Rio de Janeiro, Brasil: prevalência e fatores associados a sua ocorrência

    Directory of Open Access Journals (Sweden)

    Cláudia Maria da Silva Costa

    2006-11-01

    Full Text Available This study aims to estimate the prevalence of congenital malformations and their correlation with socioeconomic and maternal variables. The design was cross-sectional, based on a sample of 9,386 postpartum women after admission for childbirth in maternity hospitals in the city of Rio de Janeiro, Brazil. Data were collected through interviews with mothers in the immediate postpartum, as well as by consulting the patient records of both the mothers and newborn infants. Prevalence of congenital malformations at birth was 1.7%, and minor malformations were the most frequent. Neural tube defects were the most frequent major malformations. According to multivariate analysis, congenital malformations were statistically associated with: maternity hospitals belonging to or outsourced by the Unified National Health System (SUS and inadequate prenatal care (¾ 3 visits. This study highlights the importance of measures for health promotion and disease prevention in childbearing-age women, with special attention to prenatal care and childbirth, which can directly influence neonatal indicators and prevention of birth defects.Este trabalho tem como objetivo estimar a prevalência ao nascimento das malformações congênitas e sua associação com escolaridade e outras características maternas. Trata-se de um estudo seccional, a partir de uma amostra de 9.386 puérperas hospitalizadas em maternidades do Município do Rio de Janeiro, Brasil, no momento do parto, no período de 1999 a 2001. Os dados foram coletados através de entrevistas com as mães, no pós-parto imediato, assim como consulta aos prontuários das puérperas e dos recém-nascidos. A prevalência ao nascimento de malformação congênita foi de 1,7% e as malformações menores foram as mais freqüentes (polidactilia e pé torto congênito. Os defeitos de fechamento do tubo neural foram as principais anomalias maiores detectadas. Na análise multivariada, a anomalia congênita esteve associada à maternidade ser pública ou conveniada com o SUS e receber inadequada assistência pré-natal (até três consultas. Ressalta-se neste estudo a importância de ações de promoção da saúde e prevenção de agravos a mulheres em idade fértil, com atenção especial para o atendimento ao pré-natal e ao parto, que podem repercutir diretamente nos indicadores infantis e na prevenção das anomalias congênitas.

  20. 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%.

  1. 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.

  2. CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder

    OpenAIRE

    Gucev, Zoran S.; Tasic, Velibor; Jancevska, Aleksandra; Konstantinova, Marina Krstevska; Pop-jordanova, Nada; Trajkovski, Zoran; Biesecker, Leslie G.

    2008-01-01

    A newborn girl was found to have a massive lymphatic truncal vascular malformation with overlying cutaneous venous anomaly associated with overgrown feet and splayed toes. These manifestations comprise the recently described CLOVE syndrome. She also had cranial asymmetry and developed generalized seizures, which were treated with anticonvulsants. Cranial CT showed encephalomalacia, widening of the ventricles and the sulci, hemimegalencephaly (predominantly white matter) and partial agenesis o...

  3. Estudo das malformações congênitas do aparelho urinário: análise de 6.245 necropsias pediátricas Study of urinary tract congenital malformations: analysis of 6,245 pediatric autopsies

    Directory of Open Access Journals (Sweden)

    Lucia de Noronha

    2003-09-01

    Full Text Available O presente estudo tece investigações sobre os aspectos epidemiológicos de malformações do aparelho urinário de uma população de natimortos, neomortos, lactentes, pré-escolares e escolares de uma amostra representativa da população de Curitiba e região metropolitana - análise de 40 anos de necropsias na Unidade de Patologia Pediátrica e Perinatal (UPPP do Serviço de Anatomia Patológica do Hospital de Clínicas de Curitiba da Universidade Federal do Paraná (UFPR. Variáveis como sexo, idade, faixa etária e causas de morte são correlacionadas, estratificando a amostra em grupos específicos de indivíduos, apontando anormalidades epidemiológicas, doenças raras e a relação das doenças com o processo de morte. Foram encontrados 182 casos com malformações do aparelho urinário, correspondendo a 2,9% do número de necropsias avaliadas. Não foram observadas diferenças entre os sexos, e houve maior prevalência de recém-natos com tais anormalidades. A classe mais prevalente foi a de malformações renais e de trato urinário superior, com 150 casos.The presented study investigates epidemiologic aspects regarding congenital malformations of the urinary tract in a representative sample of stillborns, newborns, infants and children from Curitiba, analising autopsies from the Pediatric and Perinatal Pathology Unit (Service of the Clinical Hospital - Curitiba, Paraná in a 40-year period. Sex, age groups and death causes are correlated, dividing the cases in specific groups of study, revealing epidemiologic abnormalities, rare diseases and diseases related to the death process. Out of 6,245 autopsies, 182 cases (2.9% presented urinary tract congenital malformations. There was no difference between sex, and the group of newborns was the most prevalent. The group of malformations of the kidney and upper urinary tract contributed with 150 abnormalities.

  4. Estudo das malformações congênitas do aparelho urinário: análise de 6.245 necropsias pediátricas / Study of urinary tract congenital malformations: analysis of 6,245 pediatric autopsies

    Scientific Electronic Library Online (English)

    Lucia de, Noronha; Adriane, Reichert; Vanessa Dello Monaco, Martins; Gilberto Antunes, Sampaio; Israil, Cat; Maria José, Serapião.

    2003-09-01

    Full Text Available O presente estudo tece investigações sobre os aspectos epidemiológicos de malformações do aparelho urinário de uma população de natimortos, neomortos, lactentes, pré-escolares e escolares de uma amostra representativa da população de Curitiba e região metropolitana - análise de 40 anos de necropsias [...] na Unidade de Patologia Pediátrica e Perinatal (UPPP) do Serviço de Anatomia Patológica do Hospital de Clínicas de Curitiba da Universidade Federal do Paraná (UFPR). Variáveis como sexo, idade, faixa etária e causas de morte são correlacionadas, estratificando a amostra em grupos específicos de indivíduos, apontando anormalidades epidemiológicas, doenças raras e a relação das doenças com o processo de morte. Foram encontrados 182 casos com malformações do aparelho urinário, correspondendo a 2,9% do número de necropsias avaliadas. Não foram observadas diferenças entre os sexos, e houve maior prevalência de recém-natos com tais anormalidades. A classe mais prevalente foi a de malformações renais e de trato urinário superior, com 150 casos. Abstract in english The presented study investigates epidemiologic aspects regarding congenital malformations of the urinary tract in a representative sample of stillborns, newborns, infants and children from Curitiba, analising autopsies from the Pediatric and Perinatal Pathology Unit (Service of the Clinical Hospital [...] - Curitiba, Paraná) in a 40-year period. Sex, age groups and death causes are correlated, dividing the cases in specific groups of study, revealing epidemiologic abnormalities, rare diseases and diseases related to the death process. Out of 6,245 autopsies, 182 cases (2.9%) presented urinary tract congenital malformations. There was no difference between sex, and the group of newborns was the most prevalent. The group of malformations of the kidney and upper urinary tract contributed with 150 abnormalities.

  5. Congenital Vascular Malformation

    Science.gov (United States)

    ... them persist. Such connections are called arteriovenous fistulas (AVFs), or if there is a cluster of them ... low pressure on the venous side. Thus, these AVFs represent a high flow shortcircuit and, depending on ...

  6. 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.

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

    Scientific Electronic Library Online (English)

    Edilberto de, Araújo Filho; Sonia Ventura, Carillo; Patricia Gomes, Silva; Ciro Dresch, Martinhago; Ricardo Luiz Razera, Baruffi; João Batista Alcantara, Oliveira; José Gonçalves, Franco Jr.

    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. Abstract in english 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.

  8. 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

  9. 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.

    1163-11-01

    Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] 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

  10. 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.

    2287-22-01

    Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese 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.

  11. 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.

    2287-22-01

    Full Text Available SciELO Public Health | Language: Portuguese Abstract in portuguese 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.

  12. Reconstruction of middle ear malformations

    OpenAIRE

    Schwager, Konrad

    2008-01-01

    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 ...

  13. 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 SciELO Cuba | Language: Spanish Abstract in spanish 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.

  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. A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    International Nuclear Information System (INIS)

    The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly. (orig.)

  16. Spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Benson, J.E.; Fletcher, B.D.; Olsen, M.

    1985-09-01

    The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.

  17. Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.

    Science.gov (United States)

    Pavone, Piero; Briuglia, Silvana; Falsaperla, Raffaele; Warm, Amiel; Pavone, Vito; Bernardini, Laura; Novelli, Antonio; Praticò, Andrea D; Salpietro, Vincenzo; Ruggieri, Martino

    2014-07-01

    A 2 ½-year-old girl with multiple congenital anomalies and a de novo 5.6-Mb deletion on chromosome 13q12.11-13q12.13 is reported. She showed choanal atresia, scalp aplasia cutis, mild dysmorphic features, severe malformation of the hands and feet, Sylvian aqueductal stenosis, hydrocephalus, small cerebellum with pointed cerebellar tonsils, cervical, lumbar and sacral clefting, single central incisor and mild developmental delay. The girl's anomalies were compared with: (A) one boy reported by each of Der Kaloustian et al. [2011] and Tanteles et al. [2011] with similar, albeit smaller, 2.1 to 2.9?Mb deletions in which the abnormalities consisted of mild facial dysmorphism, mild malformations of the fingers and/or toes, and developmental delay; (B) one girl reported by Friedman et al. [2006] with similar, albeit larger, 5.7?Mb deletion with mild developmental delay and haematological abnormalities; (C) one girl reported by Slee et al. [1991] with a deletion of band q12.2 in chromosome 13, who had Moebius syndrome with facial dysmorphism, high arched palate, micrognathia, and small tongue with no abnormalities of the extremities; and (D) seven additional individuals recorded in the DECIPHER 6.0 database who all had dysmorphic features and developmental delay plus a spectrum of clinical manifestations including deafness, ataxia/oculomotor apraxia, spasticity, small testes, and mild fingers' anomalies. The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome. PMID:24807585

  18. Unilateral fixation for treatment of occipitocervical instability in children with congenital vertebral anomalies of the craniocervical junction.

    Science.gov (United States)

    Mazur, Marcus D; Ravindra, Vijay M; Brockmeyer, Douglas L

    2015-04-01

    OBJECT Patients with occipitocervical (OC) instability from congenital vertebral anomalies (CVAs) of the craniocervical junction (CCJ) often have bony abnormalities that make instrumentation placement difficult. Within this patient population, some bilateral instrumentation constructs either fail or are not feasible, and a unilateral construct must be used. The authors describe the surgical management and outcomes of this disorder in patients in whom unilateral fixation constructs were used to treat OC instability. METHODS From a database of OC fusion procedures, the authors identified patients who underwent unilateral fixation for the management of OC instability. Patient characteristics, surgical details, and radiographic outcomes were reviewed. In each patient, CT scans were performed at least 4 months after surgery to evaluate for fusion. RESULTS Eight patients with CVAs of the CCJ underwent unilateral fixation for the treatment of OC instability. For 4 patients, the procedure occurred after a bilateral OC construct failed or infection forced hardware removal. For the remainder, it was the primary procedure. Two patients required reoperation for hardware revision and 1 developed nonunion requiring revision of the bone graft. Ultimately, 7 patients demonstrated osseous fusion on CT scans and 1 had a stable fibrous union. CONCLUSIONS These findings demonstrate that a unilateral OC fixation is effective for the treatment of OC instability in children with CVAs of the CCJ in whom bilateral screw placement fails or is not feasible. PMID:25828503

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

    Directory of Open Access Journals (Sweden)

    Nicolás Fernández

    2010-03-01

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

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

    OpenAIRE

    Cakan Nedim; Saadeh Sermin; Abdulhamid Ibrahim

    2009-01-01

    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 Arab...

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

    Scientific Electronic Library Online (English)

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

    2010-01-01

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

  2. DLX5, FGF8 and the Pin1 isomerase control ?Np63? protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations

    OpenAIRE

    Restelli, Michela; Lopardo, Teresa; Lo Iacono, Nadia; Garaffo, Giulia; Conte, Daniele; Rustighi, Alessandra; Napoli, Marco; Del Sal, Giannino; Perez-morga, David; Costanzo, Antonio; Merlo, Giorgio Roberto; Guerrini, Luisa

    2014-01-01

    Ectrodactyly, or Split-Hand/Foot Malformation (SHFM), is a congenital condition characterized by the loss of central rays of hands and feet. The p63 and the DLX5;DLX6 transcription factors, expressed in the embryonic limb buds and ectoderm, are disease genes for these conditions. Mutations of p63 also cause the ectodermal dysplasia–ectrodactyly–cleft lip/palate (EEC) syndrome, comprising SHFM. Ectrodactyly is linked to defects of the apical ectodermal ridge (AER) of the developing limb bu...

  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

    Directory of Open Access Journals (Sweden)

    Migdalia de las Mercedes Peña Abraham

    2006-04-01

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

  4. Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey

    Directory of Open Access Journals (Sweden)

    Agerholm Jørgen S

    2010-10-01

    Full Text Available Abstract Background Bovine leukocyte adhesion deficiency (BLAD, deficiency of uridine monophosphate synthase (DUMPS, complex vertebral malformation (CVM, bovine citrullinaemia (BC and factor XI deficiency (FXID are autosomal recessive hereditary disorders, which have had significant economic impact on dairy cattle breeding worldwide. In this study, 350 Holstein cows reared in Turkey were screened for BLAD, DUMPS, CVM, BC and FXID genotypes to obtain an indication on the importance of these defects in Turkish Holsteins. Methods Genomic DNA was obtained from blood and the amplicons of BLAD, DUMPS, CVM, BC and FXID were obtained by using PCR. PCR products were digested with TaqI, AvaI and AvaII restriction enzymes for BLAD, DUMPS, and BC, respectively. These digested products and PCR product of FXID were analyzed by agarose gel electrophoresis stained with ethidium bromide. CVM genotypes were detected by DNA sequencing. Additionally, all genotypes were confirmed by DNA sequencing to determine whether there was a mutant allele or not. Results Fourteen BLAD, twelve CVM and four FXID carriers were found among the 350 Holstein cows examined, while carriers of DUMPS and BC were not detected. The mutant allele frequencies were calculated as 0.02, 0.017, and 0.006 for BLAD, CVM and FXID, respectively with corresponding carrier prevalence of 4.0% (BLAD, 3.4% (CVM and 1.2% (FXID. Conclusion This study demonstrates that carriers of BLAD, CVM and FXID are present in the Turkish Holstein population, although at a low frequency. The actual number of clinical cases is unknown, but sporadic cases may appear. As artificial insemination is widely used in dairy cattle breeding, carriers of BLAD, CVM and FXID are likely present within the population of breeding sires. It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population.

  5. Implication of complex vertebral malformation and bovine leukocyte adhesion deficiency DNA-based testing on disease frequency in the Holstein population.

    Science.gov (United States)

    Schütz, E; Scharfenstein, M; Brenig, B

    2008-12-01

    Two inherited lethal disorders, bovine leukocyte adhesion deficiency (BLAD) and complex vertebral malformation (CVM), play a major role in breeding of Holstein cattle. Both inherited diseases are based on single nucleotide polymorphisms that have been known for 12 and 7 yr, respectively. A total of 25,753 cattle were genotyped for BLAD (18,200 tests) and CVM (14,493 tests) in our laboratory since the beginning of the genotyping programs for these diseases. Based on founder effects, the CVM mutation is thought to be linked to milk production. The BLAD was genotyped using RFLP until 2001; then a fluorescence resonance energy transfer assay on a LightCycler was used, as for CVM genotyping. By using single nucleotide polymorphism-aided breeding, the allelic frequency of the BLAD and CVM mutations in the active sire population was reduced from 9.4% in 1997 to 0.3% in 2007 (BLAD) and from 8.3% in 2002 to 2.3% in 2007 (CVM), with calculated half-life of the mutant allele of 2.1 yr for BLAD and 3.6 yr for CVM. An observed increase of BLAD frequency in 1999 could be attributed to the massive use of a BLAD-positive sire tested falsely negative in another laboratory. These data show that marker-assisted selection is capable of substantially reducing the frequency of a mutation within a period of not more than 5 yr. The different selection strategies against the lethal recessive allele in CVM and BLAD are reflected in the different reduction rates of the specific allele frequencies. PMID:19038961

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

    Science.gov (United States)

    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 congenital adrenal hyperplasia PMID:25593872

  7. Anorectal malformations.

    Science.gov (United States)

    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 improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

  8. Anorectal malformations

    Science.gov (United States)

    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 improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

  9. Conocimientos de los internos de medicina sobre el programa del diagnóstico prenatal de malformaciones congénitas / Knowledge medical internists have about antenatal diagnosis of congenital malformations

    Scientific Electronic Library Online (English)

    Mairyn, Hidalgo Musa; Analiz de Paula, Paredes; Miriam, Musa Rodríguez; Mabel, Reyes Llanes; Marlén, González Martínez.

    2009-09-01

    Full Text Available RESUMEN La mortalidad perinatal ha descendido a cifras difícilmente modificables. El diagnóstico de las malformaciones fetales se ha convertido en el "caballo de batalla" de la nueva obstetricia. Entrevistamos a 50 internos de medicina de un total de 124, con el objetivo de evaluar el nivel de conoc [...] imiento concluido su 6to año, sobre el diagnóstico prenatal de malformaciones congénitas, durante su rotación de gineco-obstetricia en el curso 2007-2008. Del total de estudiantes encuestados solo 19 respondieron correctamente el 50% de la encuesta y ninguno respondió el 100%. Existen dificultades con el nivel de conocimiento de los estudiantes de medicina sobre el valor interpretativo del ultrasonido de programa, las indicaciones de un ECO fetal y la importancia de la genética comunitaria. Por los resultados obtenidos en este trabajo recomendamos revisar y ampliar el programa docente de los internos y estudiantes de medicina, incluyendo conferencias, seminarios y actividades que respondan al contenido obstétrico, genético y comunitario necesarios para promover cada día mejores resultados en el desarrollo del programa materno infantil de la comunidad. Abstract in english ABSTRACT Antenatal mortality has decreased to hardly modifiable figures. The diagnosis of fetal malformations has become into "the hobbyhorse" of the new obstetrics. To conduct this research paper 50 medical interns out of the total of 124 were interviewed to assess the level of knowledge they had a [...] bout antenatal diagnosis of congenital malformations during their rotation in the specialty of gynecology when ending the 6th academic year 2007-2008 of the medical studies. Only 19 medical students, of the 50 interviewed, answered the questionnaire correctly in 50%, none of them answered it entirely. There were dificulties in the level of knowledge of the medical students when reading the results of the ultrasound, the indications of a fetal ecocardiography and the importance of the community genetics. Due to the results obtained in this research paper, it was recommended to revise and to extend the syllabus of the internists and medical students including lectures, seminars and activities which respond to the development of the maternal-child care program of the community.

  10. 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 SciELO Portugal | Language: Portuguese Abstract in portuguese 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.

  11. Impacto das malformações congênitas na mortalidade perinatal e neonatal em uma maternidade-escola do Recife Impact of congenital malformations on perinatal and neonatal mortality in an university maternity hospital in Recife

    Directory of Open Access Journals (Sweden)

    Melania Maria Ramos de Amorim

    2006-05-01

    Full Text Available OBJETIVOS: determinar a incidência de malformações congênitas em recém-nascidos assistidos em uma maternidade-escola de Recife e avaliar o impacto destas malformações na mortalidade perinatal e neonatal. MÉTODOS: realizou-se um estudo longitudinal durante os meses de setembro de 2004 a maio de 2005, analisando-se todos os partos assistidos no Instituto Materno Infantil Prof. Fernando Figueira, IMIP. Determinou-se a freqüência e o tipo de malformações congênitas e foram calculados os coeficientes de mortalidade fetal, mortalidade perinatal, mortalidade neonatal precoce e tardia. RESULTADOS: a freqüência de malformações foi de 2,8% (em 4043 nascimentos. O percentual de malformações entre os nativivos foi de 2,7%, e entre os natimortos foi de 6,7%. Dentre as malformações, as mais freqüentes foram as do sistema nervoso central (principalmente hidrocefalia e meningomielocele, as do sistema osteomuscular e as cardiopatias. Não houve associação entre malformações e sexo, porém a freqüência de prematuridade e baixo peso foi maior entre os casos de malformações. Constatou-se, entre os malformados, mortalidade neonatal precoce de 32,7% e tardia de 10,6%. Os casos de malformações representaram 6,7% dos natimortos, 24,2% das mortes neonatais precoces e 25,8% do total de mortes neonatais. CONCLUSÕES: a freqüência de malformações correspondeu a 2,8% dos nascimentos. As malformações representaram a segunda causa mais freqüente de mortes neonatais, depois da prematuridade.OBJECTIVES: to determine the incidence of congenital malformations in newborns in a university maternity hospital in Recife and assess the impact of malformation in perinatal and neonatal mortality. METHODS: a longitudinal study was performed from September 2004 to May 2005 with all deliveries at the Instituto Materno Infantil Prof. Fernando Figueira, IMIP analyzed. The type and incidence of congenital malformations were determined, and fetal mortality, perinatal mortality, early and late neonatal mortality coefficients were calculated. RESULTS: malformation incidence was of 2.8% (in 4.043 births. Malformation percentages among live births was of 2.7% and among stillbirths of 6.7%. The most frequent malformations involved the central nervous system (principally hydrocephaly and meningomyelocele, the skeletal and muscular system and cardiopathies. There was no association between malformation and gender, but prematurity and low birthweight were more frequent among the malformation cases. It was determined that among malformed infants early neonatal mortality was of 32.7% and late neonatal mortality was of 10.6%. Malformation cases were 6.7% of stillborn babies, 24.2% of early neonatal deaths and 25.8% the total of neonatal deaths. CONCLUSIONS: malformation incidence corresponded to 2.8% of the births. Malformation was the second more frequent neonatal death cause following prematurity.

  12. Impacto das malformações congênitas na mortalidade perinatal e neonatal em uma maternidade-escola do Recife / Impact of congenital malformations on perinatal and neonatal mortality in an university maternity hospital in Recife

    Scientific Electronic Library Online (English)

    Melania Maria Ramos de, Amorim; Paulo Carvalho, Vilela; Aleksana Regina Viana Dutra, Santos; Ana Luiza Medeiros Vasconcelos, Lima; Eduardo França Pessoa de, Melo; Hildenice Ferreira, Bernardes; Paulo Fernando Bezerra de, Menezes Filho; Vilma Bezerra, Guimarães.

    2006-05-01

    Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVOS: determinar a incidência de malformações congênitas em recém-nascidos assistidos em uma maternidade-escola de Recife e avaliar o impacto destas malformações na mortalidade perinatal e neonatal. MÉTODOS: realizou-se um estudo longitudinal durante os meses de setembro de 2004 a maio de 2005, [...] analisando-se todos os partos assistidos no Instituto Materno Infantil Prof. Fernando Figueira, IMIP. Determinou-se a freqüência e o tipo de malformações congênitas e foram calculados os coeficientes de mortalidade fetal, mortalidade perinatal, mortalidade neonatal precoce e tardia. RESULTADOS: a freqüência de malformações foi de 2,8% (em 4043 nascimentos). O percentual de malformações entre os nativivos foi de 2,7%, e entre os natimortos foi de 6,7%. Dentre as malformações, as mais freqüentes foram as do sistema nervoso central (principalmente hidrocefalia e meningomielocele), as do sistema osteomuscular e as cardiopatias. Não houve associação entre malformações e sexo, porém a freqüência de prematuridade e baixo peso foi maior entre os casos de malformações. Constatou-se, entre os malformados, mortalidade neonatal precoce de 32,7% e tardia de 10,6%. Os casos de malformações representaram 6,7% dos natimortos, 24,2% das mortes neonatais precoces e 25,8% do total de mortes neonatais. CONCLUSÕES: a freqüência de malformações correspondeu a 2,8% dos nascimentos. As malformações representaram a segunda causa mais freqüente de mortes neonatais, depois da prematuridade. Abstract in english OBJECTIVES: to determine the incidence of congenital malformations in newborns in a university maternity hospital in Recife and assess the impact of malformation in perinatal and neonatal mortality. METHODS: a longitudinal study was performed from September 2004 to May 2005 with all deliveries at th [...] e Instituto Materno Infantil Prof. Fernando Figueira, IMIP analyzed. The type and incidence of congenital malformations were determined, and fetal mortality, perinatal mortality, early and late neonatal mortality coefficients were calculated. RESULTS: malformation incidence was of 2.8% (in 4.043 births). Malformation percentages among live births was of 2.7% and among stillbirths of 6.7%. The most frequent malformations involved the central nervous system (principally hydrocephaly and meningomyelocele), the skeletal and muscular system and cardiopathies. There was no association between malformation and gender, but prematurity and low birthweight were more frequent among the malformation cases. It was determined that among malformed infants early neonatal mortality was of 32.7% and late neonatal mortality was of 10.6%. Malformation cases were 6.7% of stillborn babies, 24.2% of early neonatal deaths and 25.8% the total of neonatal deaths. CONCLUSIONS: malformation incidence corresponded to 2.8% of the births. Malformation was the second more frequent neonatal death cause following prematurity.

  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. Mucinous bronchioloalveolar carcinoma with K-ras mutation arising in type 1 congenital cystic adenomatoid malformation: a case report with review of the literature.

    Science.gov (United States)

    Ishida, Mitsuaki; Igarashi, Tomoyuki; Teramoto, Koji; Hanaoka, Jun; Iwai, Muneo; Yoshida, Keiko; Kagotani, Akiko; Tezuka, Noriaki; Okabe, Hidetoshi

    2013-01-01

    Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare hamartomatous cystic lesion, characterized by the presence of large cysts, which are histopathologically lined by pseudostratified ciliated cells. It has been recognized that rare cases of type 1 CCAM show malignant transformation, usually bronchioloalveolar carcinoma (BAC) or adenocarcinoma. Herein, we describe a case of BAC arising in type 1 CCAM with K-ras mutation. A 9-year-old Japanese girl presented with fever. Computed tomography demonstrated large cystic lesions in her right lower lung. Histopathological study of the resected specimen revealed multiple cysts, which were lined by pseudostratified ciliated cells, and occasionally interspersed with mucous cells without atypia. A small focus of proliferation of columnar cells showing lepidic growth pattern was present. These columnar cells had abundant mucin in the cytoplasm and mildly to moderately enlarged nuclei. Accordingly, a diagnosis of BAC arising in type 1 CCAM was made. Polymerase chain reaction analysis revealed K-ras mutation at codon 12 in the BAC component. The presence of mucous cell/goblet cell hyperplasia and atypical adenomatous hyperplasia is a well known phenomenon in type 1 CCAM. A recent study clearly demonstrated K-ras mutation in these lesions, which are thought to be precursors of BAC. Therefore, the concept of malignant transformation in the sequence from type 1 CCAM to mucous cell hyperplasia to atypical adenomatous hyperplasia to BAC and invasive adenocarcinoma due to K-ras mutation has been proposed. Careful histopathological analysis is important for evaluation of malignant lesions in type 1 CCAM. PMID:24228126

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

    DEFF Research Database (Denmark)

    Sun, Yuelian; Wu, Chun Sen

    2014-01-01

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

  16. 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.

    1092-10-01

    Full Text Available SciELO Brazil | Languages: English, Portuguese Abstract in portuguese 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.

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

    Directory of Open Access Journals (Sweden)

    Rosana Cardoso Manique Rosa

    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 (USA, 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.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, compare 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.

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

    Directory of Open Access Journals (Sweden)

    Rosana Cardoso Manique Rosa

    2012-01-01

    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 (USA, 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.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, compare 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.

  19. 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.

  20. 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 SciELO Mexico | Language: Spanish Abstract in spanish 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.

  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

    Scientific Electronic Library Online (English)

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

    2012-12-01

    Full Text Available SciELO Mexico | Language: Spanish Abstract in spanish 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.

  2. 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.

  3. 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 SciELO Public Health | Language: Spanish Abstract in spanish 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.

  4. Distribución geográfica en Cali, Colombia, de malformaciones congénitas: Hospital Universitario del Valle, marzo de 2004-febrero de 2005 / Geographical distribution of congenital malformations at Hospital Universitario del Valle, Santiago de Cali, Colombia, March of 2004-February of 2005

    Scientific Electronic Library Online (English)

    Ana María, Monsalve; Isabel Cristina, Londoño; Javier, Ocampo; Diego Fernando, Cruz; Wilmar, Saldarriaga; Carolina, Isaza.

    2007-03-30

    Full Text Available SciELO Colombia | Language: Spanish Abstract in spanish Introducción: Casi a diario se ven en el Hospital Universitario del Valle (HUV) malformaciones congénitas o defectos morfológicos presentes en el momento del nacimiento. Objetivos: Determinar la distribución geográfica de procedencia por comunas de las madres de recién nacidos con malformaciones con [...] génitas atendidas en el HUV. Metodología: Es un estudio descriptivo que en el HUV usó la base de datos del Estudio Cooperativo Latino Americano de Malformaciones Congénitas. La población para estudiar fueron los recién nacidos en el HUV, entre marzo 01,2004 y febrero 28, 2005. Resultados: De 6993 partos en total, se obtuvo una muestra de 404 nacimientos, entre casos de malformaciones congénitas y controles, 96% venían de los estratos 1, 2 y 3. Las malformaciones más frecuentes fueron defectos de las extremidades (18.8%). El mayor número de nacimientos, entre casos y controles, correspondió a la comuna 13 con 37 nacimientos (16.5%), seguido de la 14 (21 nacimientos, 9.4%). La comuna 14 fue la única donde la diferencia entre casos y controles fue importante (15 casos-6 controles). Además se presentaron 3 casos de sirenomelia, una malformación poco común (1 en 100,000 nacimientos). Conclusiones: En la comuna 14 se debe identificar un factor que predisponga a malformaciones congénitas mayores. Abstract in english Introduction: Congenital malformations (CM) or morphologic defects at birthday, are seen almost everyday in the Hospital Universitario del Valle (HUV). Objectives: To determine the geographical distribution of HUV births with CM according to the place where pregnancy was sustained. Methods: A descri [...] ptive study was done using the database of The Latin-American Collaborative Study of Congenital Malformations in HUV. Population Under study was HUV newborns between March 01/2004 to February 28/2005. Results: Of 6,993 childbirths, a sample of 404 births was obtained, including cases of CM and controls, which 96% lived insocio-economic status 1, 2 and 3. The most frequent defects were extremities’ malformations (18.8%). The greatest number of childbirths, case and controls, where from commune 13 with 37 births (16.5%), followed by commune 14 (21 births, 9.4%), this commune was the only one in which the difference between cases and controls was significant (15 cases-6 controls), moreover, 3 cases of sirenomelia an unusual malformation prevalent in 1 of 100,000 births were identified in this commune. Conclusions: Factor or factors predisposing to main malformations in commune 14 should be identified.

  5. congenital anomalies

    Directory of Open Access Journals (Sweden)

    Bernardita Donoso Bernales

    2012-10-01

    Full Text Available Congenital anomalies in conjunction with intrauterine growth restriction account for 50-60% of fetal mortality. This article describes major birth defects by systems; most can be diagnosed by ultrasound while others cannot. Some anomalies develop later in pregnancy and in some cases sonographic examination may suggest the presence of a nonexistent abnormality. Incidence, etiology and risk factors of congenital malformations are described, as well as the importance and characteristics of prenatal diagnosis and prevention through folic acid supplementation in the diet.

  6. 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 aatures 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

  7. Congenital aneurysmal dilatation of the petrous-cavernous carotid artery and vertebral basilar junction in a child.

    Science.gov (United States)

    Guha, A; Montanera, W; Hoffman, H J

    1990-02-01

    The occurrence of intracranial aneurysms in the pediatric population is a rare phenomenon. An unusual case of aneurysmal dilatation of both petrous and cavernous carotid arteries and the vertebral-basilar junction in a child is presented. The underlying etiology, natural history, and possible modes of management are reviewed and discussed. PMID:2308682

  8. 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 ...

  9. Abernethy malformation: a case report

    Directory of Open Access Journals (Sweden)

    Pathak Ashish

    2012-05-01

    Full Text Available Abstract Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

  10. Malformação adenomatoide cística congênita: características clínicas, conceitos patológicos e tratamento em 172 casos / Congenital cystic adenomatoid malformation: clinical features, pathological concepts and management in 172 cases

    Scientific Electronic Library Online (English)

    Verónica, Giubergia; Marcelo, Barrenechea; Mónica, Siminovich; Hebe Gonzalez, Pena; Patricia, Murtagh.

    2012-04-01

    Full Text Available SciELO Brazil | Languages: English, Portuguese Abstract in portuguese OBJETIVO: A malformação adenomatoide cística congênita (MACC) é a malformação pulmonar ressecada cirurgicamente mais comum em crianças. Este estudo retrospectivo foi realizado para apresentar a experiência de 172 casos de MACC em um hospital pediátrico. MÉTODOS: Séries publicadas com um pequeno núme [...] ro de pacientes relatam detalhes de lesões, evolução e tratamento. Como este estudo lida com características clínicas, evolução e procedimentos cirúrgicos em 172 crianças com diagnóstico de MACC, a população inclui casos tratados e acompanhados em um hospital pediátrico ao longo de 25 anos (1986-2011). RESULTADOS: A idade média ao diagnóstico foi de 48 meses (r = 0,03-213), 52% (n = 90) eram do sexo masculino. Os sintomas de apresentação mais comuns foram dificuldade respiratória em crianças com menos de 6 meses de idade (40%) e pneumonia recorrente nas que tinham mais idade (75%; p = 0.001). Lobectomia foi o procedimento de escolha na maioria dos casos. Todos os tipos histológicos foram encontrados: 1 (70%), 2 (24%), 4 (4%) e 0 e 3 (n = 1). Foi observado um padrão misto em nove pacientes. Foram encontradas anomalias associadas em 47% das crianças. A mais frequente foi sequestro (71%), mais presente na MACC tipo 2 (p = 0,001). As anomalias mais graves se relacionaram principalmente com o tipo 2 (p = 0,008). Também foram observados um blastoma pleuropulmonar e um carcinoma broncoalveolar. A mortalidade foi de 5% (n = 9). Os fatores de risco para mortalidade foram falência respiratória (OR = 25,7 [IC95% 3,2-221]; p = 0,03), sepse (OR = 9,9 [IC95% 8,2-12]; p = 0,002), necessidade de assistência respiratória (OR = 9,5 [IC95% 2,3-37]; p = 0,04) e diversas comorbidades associadas (OR = 3,3 [IC95% 1,2-22]; p = 0,008). CONCLUSÕES: Foram observadas anomalias relacionadas em quase metade da população. Devido à possibilidade de infecção recorrente ou desenvolvimento de neoplasias, deve-se considerar a ressecção cirúrgica quando MACC for diagnosticada. O desfecho cirúrgico é favorável e apresenta complicações tratáveis. Abstract in english OBJECTIVE: Congenital cystic adenomatoid malformation (CCAM) is the most common surgically resected pulmonary malformation in children. This retrospective study was undertaken to present the experience of 172 CCAM cases in a pediatric hospital. METHODS: Published series with a small number of patien [...] ts reports details of lesions, progress and management. As this study addresses clinical characteristics, progress and surgical procedures in 172 children with CCAM diagnosis, the population includes cases treated and followed up in a pediatric hospital throughout 25 years (1986-2011). RESULTS: Mean age at diagnosis was 48 months (r = 0.03-213), 52% (n = 90) were male. The most common presenting symptoms were respiratory distress in children under 6 months of age (40%) and recurrent pneumonia in older ones (75%; p = 0.001). Lobectomy was the procedure of choice in the majority. All histological types were found: 1 (70%), 2 (24%), 4 (4%), and 0 and 3 (n = 1). A mixed pattern was observed in nine patients. Associated anomalies were found in 47% of children. The most frequent was sequestration (71%), mostly present in CCAM type 2 (p = 0.001). Severe anomalies were mostly related to type 2 (p = 0.008). A pleuropulmonary blastoma and a bronchioloalveolar carcinoma were also observed. Mortality was 5% (n = 9). Risk factors for mortality were respiratory failure (OR = 25.7 [95%CI 3.2-221]; p = 0.03), sepsis (OR = 9.9 [95%CI 8.2-12]; p = 0.002), respiratory assistance requirements (OR = 9.5 [95%CI 2.3-37]; p = 0.04), and severe associated comorbidities (OR = 3.3 [95%CI 1.2-22]; p = 0.008). CONCLUSIONS: Related anomalies were observed in almost half of the population. Due to the possibility of recurrent infection or development of malignancies, surgical resection should be considered when CCAM is diagnosed. Surgical outcome is favorable with manageable complicat

  11. Clinical and Genetic Studies in Inherited Cardiovascular Malformations

    OpenAIRE

    Laar, I. M. B. H.

    2012-01-01

    Cardiovascular malformations comprise a broad spectrum of anomalies of the heart and blood vessels, including congenital heart malformations (CHM) and aortic aneurysms, the two main topics of this thesis. These conditions lead to significant morbidity and mortality both in infancy and adulthood. A substantial proportion of cardiovascular malformations have a genetic background, including large chromosomal abnormalities, submicroscopic chromosome deletions or duplications, an...

  12. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

    Science.gov (United States)

    Unger, Sheila; Lausch, Ekkehart; Rossi, Antonio; Mégarbané, Andre; Sillence, David; Alcausin, Melanie; Aytes, Antonio; Mendoza-Londono, Roberto; Nampoothiri, Sheela; Afroze, Bushra; Hall, Bryan; Lo, Ivan F M; Lam, Stephen T S; Hoefele, Julia; Rost, Imma; Wakeling, Emma; Mangold, Elisabeth; Godbole, Komudi; Vatanavicharn, Nithiwat; Franco, Luis M; Chandler, Kate; Hollander, Sophia; Velten, Tanja; Reicherter, Kerstin; Spranger, Jürgen; Robertson, Stephen; Bonafé, Luisa; Zabel, Bernhard; Superti-Furga, Andrea

    2010-10-01

    We recently reported on the deficiency of carbohydrate sulfotransferase 3 (CHST3; chondroitin-6-sulfotransferase) in six subjects diagnosed with recessive Larsen syndrome or humero-spinal dysostosis [Hermanns et al. (2008); Am J Hum Genet 82:1368-1374]. Since then, we have identified 17 additional families with CHST3 mutations and we report here on a series of 24 patients in 23 families. The diagnostic hypothesis prior to molecular analysis had been: Larsen syndrome (15 families), humero-spinal dysostosis (four cases), chondrodysplasia with multiple dislocations (CDMD "Megarbane type"; two cases), Desbuquois syndrome (one case), and spondylo-epiphyseal dysplasia (one case). In spite of the different diagnostic labels, the clinical features in these patients were similar and included dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood. The most useful radiographic clues were the changes of the lumbar vertebrae. Twenty-four different CHST3 mutations were identified; 16 patients had homozygous mutations. We conclude that CHST3 deficiency presents at birth with congenital dislocations of knees, hips, and elbows, and is often diagnosed initially as Larsen syndrome, humero-spinal dysostosis, or chondrodysplasia with dislocations. The incidence of CHST3 deficiency seems to be higher than assumed so far. The clinical and radiographic pattern (joint dislocations, vertebral changes, normal carpal age, lack of facial flattening, and recessive inheritance) is characteristic and distinguishes CHST3 deficiency from other disorders with congenital dislocations such as filamin B-associated dominant Larsen syndrome and Desbuquois syndrome. PMID:20830804

  13. La mortalidad infantil por malformaciones congénitas en México: un problema de oportunidad y acceso al tratamiento / Infant mortality from congenital malformations in Mexico: an issue of opportunity and access to treatment

    Scientific Electronic Library Online (English)

    Alejandro V., Gómez-Alcalá; Ramón A., Rascón-Pacheco.

    2008-11-01

    Full Text Available SciELO Public Health | Language: Spanish Abstract in spanish OBJETIVOS: Caracterizar el comportamiento del Sistema Nacional de Salud (SNS) de México en la tarea de reducir el número de muertes por malformaciones congénitas mediante el análisis de la tendencia de las tasas de mortalidad infantil específicas por esas afecciones. MÉTODOS: Análisis de series de t [...] iempos de las defunciones de niños y niñas menores de 1 año entre 1980 y 2005, según las bases de datos nacionales anuales de mortalidad de la Secretaría de Salud de México. Se calcularon las tasas de mortalidad infantil específicas (TMIe) por malformaciones congénitas graves más frecuentes en México: defectos del tubo neural, hernia diafragmática congénita, exonfalos (onfalocele y gastrosquisis) y malformaciones cardíacas y del tubo digestivo, agrupadas según el grado de urgencia y de sofisticación tecnológica que demanda su tratamiento y el desenlace más frecuente. RESULTADOS: Entre 1980 y 2005, la tasa de mortalidad infantil en México descendió de 40,7 a 16,9 por 1 000 nacimientos (? = -0,86; P Abstract in english OBJECTIVES: To evaluate the role that Mexico's National Health System (Sistema Nacional de Salud-SNS) has played in the task of reducing the number of deaths due to congenital malformations through a trends analysis of cause-specific infant mortality rates (IMRcs). METHODS: Time-series analysis of d [...] eaths of boys and girls under 1 year of age from 1980-2005, according to databases of national and annual mortality maintained by the Secretariat of Health of Mexico. Cause-specific mortality rates were calculated for the most frequently occurring, severe, congenital malformations in Mexico: neural tube defects, diaphragmatic hernias, exomphalos (omphalocele and gastroschisis), and heart and digestive tract defects, grouped according to severity, degree of technological sophistication required for treatment, and most frequent outcome. RESULTS: From 1980-2005, the infant mortality rate in Mexico decreased from 40.7 to 16.9 per 1 000 births (? = -0.86; P

  14. Malformed Frogs

    Science.gov (United States)

    Twin Cities Public Television, Inc.

    2005-01-01

    This activity (on page 2 of the PDF) is a full inquiry investigation into using indicator species to assess the health of an environment. Groups of learners will collect as many frogs as they can from a pond, looking for malformations, which will be documented and further sorted as either symmetrical or asymmetrical. This data will then be graphed to identify a prevalent trend and possible cause of malformations. Relates to linked video, DragonflyTV: Malformed Frogs.

  15. Acquired Chiari Malformation: Safety of Neuraxial Anesthesia?

    Directory of Open Access Journals (Sweden)

    Twinkal P. Dalal

    2013-01-01

    Full Text Available Chiari malformation is a congenital anomaly that primarily involves the downward displacement of the cerebellar tonsils through the foramen magnum and elongation of forth ventricle and lower brainstem. Patients with Chiari I (congenital or acquired malformation are asymptomatic or may presents with neurologic signs and symptoms. It is always a question of safety of neuraxial anesthesia in these patients. There is potential risk of dural puncture that can initiate the neurologic symptoms or worsen the existing symptoms due to CSF leakage or tonsillar herniation. Other side, performance of neuraxial anesthesia can cause acquired Chiari I type malformation due to CSF leak and intracranial hypotension. We reviewed the case reports and articles regarding safety of neuraxial anesthesia in the setting of Congenital or Acquired Chiari malformation.

  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 / Nursing professionals before of the birth of a child with congenital malformation / Los profesionales de Enfermería en el nacimiento de un niño con malformación congénita

    Scientific Electronic Library Online (English)

    Iêda Maria Ávila Vargas, Dias; Rosangela da Silva, Santos.

    2007-03-01

    Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese 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 percepç [...] ão 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. Abstract in spanish 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. Abstract in english 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 s [...] taff 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. 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.

  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. Vascular malformations revisited.

    Science.gov (United States)

    Clemens, Robert K; Pfammatter, Thomas; Meier, Thomas O; Alomari, Ahmad I; Amann-Vesti, Beatrice R

    2015-01-01

    Vascular malformations are congenital anomalies that can affect each part of the vasculature. Combined forms are common and they are often part of complex syndromes. Most malformations are diagnosed during infancy, but some get obvious only later in life. The field of vascular malformations is emerging with recently described new entities and treatments. Still, misdiagnosis is common in this field, leading to nosologic confusion and wrong treatment. Clinical evaluation and imaging are the gold standard for diagnostic confirmation. Sclerotherapy and embolization are the main treatment techniques but are also used preoperatively to reduce blood loss and shrink the lesion if surgery is planned. Despite new treatment options, especially if extensive in size or involving vulnerable structures, vascular malformations are still considered chronic diseases and cause significant morbidity. Common understanding and agreement on terminology and a multidisciplinary approach are the basis of successful treatment and long-term support for these patients. Continuing research in the field of vascular anomalies will improve knowledge and create further treatment options. PMID:25537054

  1. DLX5, FGF8 and the Pin1 isomerase control ?Np63? protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.

    Science.gov (United States)

    Restelli, Michela; Lopardo, Teresa; Lo Iacono, Nadia; Garaffo, Giulia; Conte, Daniele; Rustighi, Alessandra; Napoli, Marco; Del Sal, Giannino; Perez-Morga, David; Costanzo, Antonio; Merlo, Giorgio Roberto; Guerrini, Luisa

    2014-07-15

    Ectrodactyly, or Split-Hand/Foot Malformation (SHFM), is a congenital condition characterized by the loss of central rays of hands and feet. The p63 and the DLX5;DLX6 transcription factors, expressed in the embryonic limb buds and ectoderm, are disease genes for these conditions. Mutations of p63 also cause the ectodermal dysplasia-ectrodactyly-cleft lip/palate (EEC) syndrome, comprising SHFM. Ectrodactyly is linked to defects of the apical ectodermal ridge (AER) of the developing limb buds. FGF8 is the key signaling molecule in this process, able to direct proximo-distal growth and patterning of the skeletal primordial of the limbs. In the limb buds of both p63 and Dlx5;Dlx6 murine models of SHFM, the AER is poorly stratified and FGF8 expression is severely reduced. We show here that the FGF8 locus is a downstream target of DLX5 and that FGF8 counteracts Pin1-?Np63? interaction. In vivo, lack of Pin1 leads to accumulation of the p63 protein in the embryonic limbs and ectoderm. We show also that ?Np63? protein stability is negatively regulated by the interaction with the prolyl-isomerase Pin1, via proteasome-mediated degradation; p63 mutant proteins associated with SHFM or EEC syndromes are resistant to Pin1 action. Thus, DLX5, p63, Pin1 and FGF8 participate to the same time- and location-restricted regulatory loop essential for AER stratification, hence for normal patterning and skeletal morphogenesis of the limb buds. These results shed new light on the molecular mechanisms at the basis of the SHFM and EEC limb malformations. PMID:24569166

  2. 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.

  3. 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.)

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

    International Nuclear Information System (INIS)

    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.)

  5. 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.

    1075-10-01

    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).

  6. Obstetric outcomes in women with mullerian duct malformations

    Directory of Open Access Journals (Sweden)

    Padmasri Ramalingappa

    2014-02-01

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

  7. Management of perinatal lung malformations.

    Science.gov (United States)

    Macardle, C A; Kunisaki, S M

    2015-02-01

    This review uses the most up-to-date literature to help guide obstetrical providers through the diagnosis and management of perinatal lung malformations. These lesions, which include congenital pulmonary airway malformation [CPAM, formerly congenital cystic adenomatoid malformation (CCAM)] and bronchopulmonary sequestration (BPS), are relatively rare but are becoming increasingly common because of the improved resolution and enhanced sensitivity of fetal ultrasound. Serial assessment throughout pregnancy remains the norm rather than the exception. Perinatal management strategies can differ based on the sonographic characteristics and dynamic growth patterns of lung masses. Fetal magnetic resonance imaging and other diagnostic testing can sometimes be helpful in providing additional prognostic information. Over the last decade, the importance of echocardiography and utility of maternal steroids have been recognized in cases of non-immune hydrops. Fetal surgery is now rarely performed. Decisions regarding whether delivery of these fetuses should occur in a tertiary care center with pediatric surgery coverage versus delivery at a local community hospital are now highly relevant in most prenatal counseling discussions with families. Large lung malformations may require urgent surgical removal in the early postnatal period because of respiratory distress. Other complications, such as recurrent pneumonia, pneumothorax, and cancer, are indications for lung resection on an elective basis. In the vast majority of cases, the overall prognosis remains excellent. PMID:25310108

  8. Headache precipitated by Valsalva maneuvers in patients with congenital Chiari I malformation / Cefaléia precipitada por manobras de Valsalva em pacientes com malformação congênita de Chiari tipo I

    Scientific Electronic Library Online (English)

    Hugo André de Lima, Martins; Valdenilson Ribeiro, Ribas; Murilo Duarte Costa, Lima; Daniella Araújo de, Oliveira; Marcelo Tavares, Viana; Ketlin Helenise dos Santos, Ribas; Marcelo Moraes, Valença.

    2010-06-01

    Full Text Available SciELO Brazil | Language: English Abstract in portuguese Neste estudo, objetivou-se caracterizar a cefaléia desencadeada por manobra de Valsalva, em portadores de malformação de Chiari tipo 1 (MC-1). Foram avaliados 19 pacientes com idades variando entre 30 e 75 anos. Dentre estes, 10 apresentaram cefaléia. A região mais acometida foi a occipital (80%) e [...] frontal (60%). A cefaléia foi de duração bem menor nas mulheres em relação aos homens. A freqüência da cefaléia foi relativamente alta, com todos os pacientes apresentando pelo menos um episódio por mês. Os principais fatores desencadeantes foram a tosse, que já é bem descrita pela literatura, e a atividade sexual, que apenas recentemente foi associada a MC-1. Abstract in english The objective of this study was to characterize the headache precipitated by Valsalva maneuvers associated with Chiari type I malformation (CM-1). Nineteen patients were evaluated, with ages ranging from 30 to 75 years. Ten of them presented headache. Pain was more prevalent in the occipital (80%) a [...] nd frontal region (60%). The headaches were of significantly shorter duration in the women compared with the men. The frequency of headache crises was relatively high. All patients with Valsalva-related headache suffered from at least one episode per month. The most prevalent precipitating factors were coughing, which is well described in the literature, and sexual activity, which only now is recognized as an event associated with CM-1.

  9. Vein of Galen malformations: epidemiology, clinical presentations, management.

    Science.gov (United States)

    Recinos, Pablo F; Rahmathulla, Gazanfar; Pearl, Monica; Recinos, Violette Renard; Jallo, George I; Gailloud, Philippe; Ahn, Edward S

    2012-01-01

    The vein of Galen aneurysmal malformation is a congenital vascular malformation that comprises 30% of the pediatric vascular and 1% of all pediatric congenital anomalies. Treatment is dependent on the timing of presentation and clinical manifestations. With the development of endovascular techniques, treatment paradigms have changed and clinical outcomes have significantly improved. In this article, the developmental embryology, clinical features and pathophysiology, diagnostic workup, and management strategies are reviewed. PMID:22107867

  10. Arterio venous malformation of the nose and forehead

    OpenAIRE

    Prasad, Kishore Chandra; Padmanabhank; Malhotra, Nikitas; Alex, Alexander

    2004-01-01

    Congenital arterio-venous malformations of the head and neck are uncommon lesions encountered in clinical practice. They can have a range of clinical effects from mild disfigurement to cardiac failure. Treatment of these lesions poses a challenge to the surgeon due to their extreme vascularity and high incidence of recurrence. Highly selective arterial embolization and surgical resection offer the best chance for cure. The ease presented is that of a congenital a v malformation of the face, w...

  11. Congenital absence of the portal vein associated with congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Gocmen, Rahsan; Akhan, Okan [Hacettepe University Faculty of Medicine, Radiology Department, Ankara (Turkey); Talim, Beril [Hacettepe University Faculty of Medicine, Pathology Department, Ankara (Turkey)

    2007-09-15

    The radiological features of a 7-year-old boy with congenital absence of the portal vein, pathologically proven congenital hepatic fibrosis, double inferior vena cava, ventricular septal defect, vertebral anomalies, crossed fused renal ectopia, and facial anomalies with pathological correlation are reported. This association between congenital absence of the portal vein and congenital hepatic fibrosis is unique. (orig.)

  12. 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

  13. Congenital toxoplasmosis presenting as massive neonatal ascites.

    Science.gov (United States)

    Vanhaesebrouck, P; De Wit, M; Smets, K; De Praeter, C; Leroy, J G

    1988-08-01

    A preterm infant with isolated transudative ascites caused by Toxoplasma gondii is described. In the absence of obvious congenital malformations, toxoplasmosis should be considered in the differential diagnosis of fetal and neonatal non-immune ascites. PMID:3049467

  14. A syndromal and an isolated form of uterine arteriovenous malformations: two case-reports.

    Science.gov (United States)

    Geerinckx, I; Willemsen, W; Hanselaar, T

    2001-12-10

    Uterine arteriovenous malformations are rare lesions with a considerable risk potential. Clinical presentation varies from no signs over various degrees of menorrhagia to massive life threatening vaginal bleeding. This is the first report of congenital uterine arteriovenous malformations in two patients with primary infertility. In one case, the uterine lesions were found in conjunction with other congenital malformations suggesting the diagnosis of hemihyperplasia/lipomatosis syndrome. Etiology, symptoms, diagnostic and therapeutic work-up are discussed; pathological findings are illustrated. PMID:11728664

  15. 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.

  16. Dural arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Solymosi, L.; Wappenschmidt, J.; Wuellenweber, R.

    1987-11-01

    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.

  17. The Chiari malformations: A review with emphasis on anatomical traits.

    Science.gov (United States)

    Cesmebasi, Alper; Loukas, Marios; Hogan, Elizabeth; Kralovic, Sara; Tubbs, R Shane; Cohen-Gadol, Aaron A

    2015-03-01

    Hindbrain herniations come in many forms and have been further subdivided as their original descriptions. For cerebellar tonsillar ectopia, they can be divided into two categories, acquired and congenital. Acquired hindbrain herniations are due to increased intracranial pressure caused by certain conditions such as trauma or brain tumor. Although the mechanism for their formation is not clear, congenital hindbrain herniation makes up the majority of these congenital malformations. Furthermore, these malformations are often found to harbor additional anatomical derailments in addition to the hindbrain herniation whether it be the cerebellar tonsils (Chiari I malformation) or the cerebellar vermis (Chiari II malformation). This article reviews these forms of cerebellar ectopia and describes the details of their anomalous anatomy. Moreover, this article compares and contrasts the differing embryological theories found in this literature. Clin. Anat. 28:184-194, 2015. © 2014 Wiley Periodicals, Inc. PMID:25065525

  18. 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)

  19. 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.

  20. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    OpenAIRE

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

    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 radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59%) pati...

  1. 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.)

  2. 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.)

  3. Arteriovenous malformations and other vascular malformation syndromes.

    Science.gov (United States)

    Whitehead, Kevin J; Smith, Matthew C P; Li, Dean Y

    2013-02-01

    Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the heart. In the case of arteriovenous malformations, arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. Clinical consequences result from rupture and hemorrhage, from dramatically increased blood flow, or from the loss of capillary functions such as nutrient exchange and filtering function. These malformations can occur sporadically or as a component of inherited vascular malformation syndromes. In these and other hereditary vascular malformation syndromes, genetic studies have identified proteins and pathways involved in vascular morphogenesis and development. A common theme observed is that vascular malformations result from disruption in pathways involved in vascular stability. Here we review the vascular malformations and pathways involved in hereditary hemorrhagic telangiectasia, capillary malformation-arteriovenous malformation, cerebral cavernous malformations, and mucocutaneous venous malformations. PMID:23125071

  4. 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.)

  5. Congenital malformations of uterus and vagina

    Energy Technology Data Exchange (ETDEWEB)

    Forstner, R. (University of California, San Francisco, CA (United States). Dept. of Radiology Landeskrankenanstalten Salzburg (Austria). Zentralroentgeninstitut); Hricak, H. (University of California, San Francisco, CA (United States). Dept. of Radiology)

    1994-07-01

    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.)

  6. 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

  7. Amphibian malformations and inbreeding

    OpenAIRE

    Williams, Rod N.; Bos, David H.; Gopurenko, David; Dewoody, J. Andrew

    2008-01-01

    Inbreeding may lead to morphological malformations in a wide variety of taxa. We used genetic markers to evaluate whether malformed urodeles were more inbred and/or had less genetic diversity than normal salamanders. We captured 687 adult and 1259 larval tiger salamanders (Ambystoma tigrinum tigrinum), assessed each individual for gross malformations, and surveyed genetic variation among malformed and normal individuals using both cytoplasmic and nuclear markers. The most common malformations...

  8. 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

  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. 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.

  11. Chiari I malformation: A missed diagnosis

    Directory of Open Access Journals (Sweden)

    Shehu B

    2006-12-01

    Full Text Available Chiari I malformation is a complex congenital malformation of the hindbrain, characterized by herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal. There may be mild caudal displacement and flattening or kinking of the medulla with an associated small posterior fossa. We present a case of a 30 year old man who presented with a 2 year history of worsening nystagmus and ataxia with associated occipital headache and diplopia. Examination showed a young man with horizontal and vertical nystagmus, he had truncal ataxia and Rhomberg?s sign was positive. Diagnosis was missed by several clinicians during the 2 year period. Repeated brain CT scans were normal. Brain MRI confirmed the diagnosis of Chiari I malformation and cervical syringomyelia. He had decompressive occipital craniectomy durotomy and duroplasty. The patient recovered fully from ataxia headache and diplopia but still has residual nystagmus.

  12. Clinical review of inner ear malformation

    International Nuclear Information System (INIS)

    We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

  13. [Clinical review of inner ear malformation].

    Science.gov (United States)

    Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

    2003-10-01

    We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; 1. Labyrynthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), 2. Cochlear anomalies 24%, 3. Enlargement of the vestibular aqueduct 12%, 4. Narrow internal auditory canal 2%, 5. Complete labyrinthine aplasia 1%, 6. Enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. PMID:14631771

  14. Fetal ascites associated with congenital heart disease. Case report.

    Science.gov (United States)

    Allan, L; Little, D; Campbell, S; Whitehead, M I

    1981-04-01

    Fetal ascites occurs for many reasons and has been diagnosed more frequently following the introduction of routine ultrasound scanning during pregnancy. We report the diagnosis of fetal ascites associated with an isolated congenital heart malformation. PMID:7225305

  15. 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.)

  16. Adenomatoid cystic malformation, report of a case with prenatal diagnostic by ultrasound

    International Nuclear Information System (INIS)

    We report a case of a male newborn with a right intrapulmonary cystic lesion, without other congenital malformations or fetal hidrops, visualized prenatally by ultrasound in the second trimester, posterior diagnosed as a cystic adenomatoid malformation. We describe the ultrasound, plain, film, CT; histopathologic and intraoperatory findings

  17. Congenital block vertebrae in lumbar spine

    Directory of Open Access Journals (Sweden)

    Ankur Nandan Varshney

    2013-05-01

    Full Text Available A 34-year-old female visited our rheumatology clinic with the complaint of non-inflammatory back pain that usually occurred on bending down and radiated to bilateral lower limbs. A diagnosis of compressive neuropathy was suspected and an initially performed digital X-ray of lumbar spine revealed a rare congenital anomaly termed as ‘Congenital block vertebrae’ in the lumbar spine (Fig 1.Block vertebrae, a congenital anomaly, occurs due to improper segmentation of vertebral column during fetal development. Improper segmentation leads to fusion of adjacent vertebrae through their inter-vertebral disc. The most common site of this deformity is cervical spine and the lumbar vertebral involvement is rare. The disco-vertebral articulation is always involved and depending on the degree of involvement, the presenting complaints could be either neurological due to the compression of nerve roots or scoliosis due to the vertebral deformity.

  18. 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 skilmonary 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

  19. 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.

  20. 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...

  1. 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 evalu 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)

  2. Congenital pulmonary lymphangiectasis.

    Science.gov (United States)

    Reiterer, Friedrich; Grossauer, Karin; Morris, Nicholas; Uhrig, Sabine; Resch, Bernhard

    2014-09-01

    Congenital pulmonary lymphangiectasis (CPL) is a rare vascular malformation causing dilated lymph vessels and disturbed drainage of lymph fluid. Based on the pathogenesis and clinical phenotype it can be classified as primary or secondary CPL. Associated genetic syndromes with or without lymphedema, familial occurrence and gene mutations have been described. In utero, it may present as non-immune hydrops with pleural effusions. At birth neonates may have respiratory failure due to chylothorax and pulmonary hypoplasia, causing very high short term mortality rates. Other cases may become symptomatic any time later in childhood or even during adult life. CPL is usually diagnosed based on the combination of clinical signs, imaging and histological findings. Open-lung biopsy is considered the gold standard for the diagnosis of CPL. Treatment is primarily supportive featuring aggressive mechanical ventilation and the management of problems associated with congenital chylothorax including chest-drainage, medium-chain triglycerides (MCT) diet, and octreotide. PMID:24997116

  3. Klippel-Feil syndrome associated with congenital cervical dislocation: report of an autopsy case.

    Science.gov (United States)

    Shintaku, Masayuki; Wada, Kyosuke; Koyama, Takashi; Kohno, Hiroaki; Sakamoto, Takeshi; Hida, Shinya

    2013-01-01

    Klippel-Feil syndrome is an uncommon congenital anomaly that is characterized by abnormal fusion of the cervical vertebrae and occasionally accompanied by various anomalies of other bones and internal organs. We report the autopsy case of a 5-year-old girl with this syndrome ssociated with congenital cervical dislocation, with special reference to the pathological findings of the vertebral column and spinal cord. Principal anomalies of the cranio-spinal axis were as follows: partial defect of the clivus, scoliosis, hypoplasia of the whole cervical vertebrae, anterior dislocation of C7 with S-shaped deformity of the spinal canal, fusion of the spinous processes of the cervical and thoracic vertebrae, fusion of the vertebral bodies of C6 and C7 with collapse of C7, and spina bifida occulta of L5 and S1. In addition to these skeletal anomalies, subarachnoid vascular malformation in the medulla oblongata, a bronchogenic cyst in the posterior mediastinum, anomalous lobation of the lungs, and the mobile cecum were found at autopsy. The cervical cord showed an increase of the antero-posterior diameter, multifocal spongy changes of the white matter, and partial branching or duplication of the central canal. The brain showed features of anoxic encephalopathy. The partial defect of the clivus, C7 dislocation, and various lesions of the medulla oblongata and cervical cord were interpreted as integral components of, or lesions closely associated with, Klippel-Feil syndrome. PMID:22762890

  4. Congenital Portosystemic Shunt: Our Experience

    Science.gov (United States)

    Timpanaro, Tiziana; Passanisi, Stefano; Sauna, Alessandra; Trombatore, Claudia; Pennisi, Monica; Petrillo, Giuseppe; Smilari, Pierluigi; Greco, Filippo

    2015-01-01

    Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II). In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down's syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis. PMID:25709849

  5. Mesenteric lymphatic malformation associated with acute appendicitis: a case report

    Directory of Open Access Journals (Sweden)

    Hunter Catherine

    2009-09-01

    Full Text Available Abstract Introduction Mesenteric lymphatic malformations are rare, benign tumors that are most commonly found in children. The presentation of these tumors is variable and may either be innocuous or life threatening. It has been suggested that mesenteric lymphatic malformations are congenital; however, there is evidence that their growth may be stimulated by local trauma. Case presentation We describe the first case of a mesenteric lymphatic malformation associated with acute appendicitis in a 13-year-old Caucasian boy. The patient is well six months after surgical excision of the tumor. Conclusion The reader should be aware that growth and/or development of mesenteric lymphatic malformations may be associated with trauma and other pro-inflammatory processes.

  6. Non-synonymous variants in Pre B-cell leukemia homeobox (PBX) genes are associated with congenital heart defects

    OpenAIRE

    Arrington, Cammon B.; Dowse, Benjamin R.; Bleyl, Steven B.; Bowles, Neil E.

    2012-01-01

    Congenital cardiac malformations are one of the most common birth defects and most are believed to be multigenic/multifactorial in nature. Recently mice lacking Pre-B cell leukemia transcription homeobox (PBX) genes were created and found to have a range of ventricular outflow tract (OFT) malformations. Therefore, we screened 95 patients with congenital heart defects, including OFT malformations, for variants in genes encoding PBX proteins, as well as interacting proteins. The coding exons of...

  7. 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 functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenationof the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT.

  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. Skeletal malformations in fetuses with Meckel syndrome.

    DEFF Research Database (Denmark)

    Kjaer, K W; Fischer Hansen, B

    1999-01-01

    In six fetuses with Meckel syndrome (gestational age 16-23 weeks, crown-rump length 130-170 mm) the skeleton was examined as part of the autopsy procedure using whole body radiography and special radiographic techniques. In the upper and lower limbs we found similar types of polydactyly. We noted four types, based on the number and morphology of metacarpals and metatarsals. In the individual fetus there was more often similarity in the pattern of malformation in the two hands or in the two feet than there was between the pattern of malformation seen in the hands and that seen in the feet. Only one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included in the future evaluation of phenotypes in Meckel syndrome.

  10. 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.

  11. 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.

  12. Congenital Pseudohorseshoe Lung Associated with Scimitar Syndrome

    Science.gov (United States)

    Tosun, Alptekin; Leblebisatan, Serife

    2012-01-01

    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. PMID:23329972

  13. Imaging features of ductal plate malformations in adults

    International Nuclear Information System (INIS)

    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.

  14. 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.

  15. Posterior fossa malformations.

    Science.gov (United States)

    Shekdar, Karuna

    2011-06-01

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

  16. An unusual constellation of congenital malformations in a single patient including partial anomalous pulmonary venous return, persistent left superior vena cava, aberrant pulmonary fissure, anomalous aortic arch, tracheal diverticulum and annular pancreas.

    Science.gov (United States)

    Lapa, T; Vedelago, J; Kim, H; Patrick, E

    2014-01-01

    We report a case of a male patient with a constellation of rare congenital anomalies consisting of: partial anomalous pulmonary venous return (PAPVR), persistent left superior vena cava, 'bovine arch' aortic branching, tracheal diverticulum, aberrant lung fissure anatomy and an annular pancreas. He had presented with a history of worsening dyspnoea. To the best of our knowledge, this is the first reported case of a single patient with such a vast constellation of anomalies. The radiological evaluations, epidemiology, embryology and clinical features of the anomalies are discussed. It is important for radiologists to be aware of each of these anomalies as distinct entities; detection of a single anomaly should alert to the possibility that further anatomic aberrancies may be present. PMID:25362184

  17. Congenital Leukemia

    OpenAIRE

    Rupali Bargotra, Jyotsna Suri

    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.

  18. High anorectal malformation in a five-month-old boy: a case report

    OpenAIRE

    Pandey Anand; Gangopadhyay Ajay N; Kumar Vijayendra; Sharma Shiv P

    2010-01-01

    Abstract Introduction Anorectal malformation, one of the most common congenital defects, may present with a wide spectrum of defects. Almost all male patients present within first few days of life. Case presentation A five-month-old baby boy of Indian origin and nationality presented with anal atresia and associated rectourethral prostatic fistula. The anatomy of the malformation and our patient's good condition permitted a primary definitive repair of the anomaly. A brief review of the relev...

  19. 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.

  20. Cranial malformations in related white lions (Panthera leo krugeri).

    Science.gov (United States)

    Scaglione, F E; Schröder, C; Degiorgi, G; Zeira, O; Bollo, E

    2010-11-01

    White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions. PMID:20826844

  1. 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.)

  2. 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.)

  3. A patient with oculus-auricule-vertebral spectrum and occipital meningocele

    Directory of Open Access Journals (Sweden)

    Harry Mauricio Pachajoa Londoño

    2006-08-01

    Full Text Available We report a newborn with multiple features of the oculus-auricule-vertebral spectrum (OAVS. The different malformations arepointed out that conform a wide spectrum of anomalies at themoment, according to the revised literature, as well as the clinicalcharacteristics, treatment and their evolution. The malformations ofthe central nervous system type meningocele and malformation ofDandy Walker is a novel discovery that can be explained by this typeof morphogenetic alterations.

  4. Polymicrogyria: a common and heterogeneous malformation of cortical development.

    Science.gov (United States)

    Stutterd, Chloe A; Leventer, Richard J

    2014-06-01

    Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. PMID:24888723

  5. 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 ...

  6. Congenital Scoliosis

    Science.gov (United States)

    ... Query into the Efficacy of Spinal Surgery (PDF) Leadership in Orthopaedic Surgery Neuromonitoring Information Statement (Word) SRS ... Main Patient Stories Kyphosis About Kyphosis Congenital Kyphosis Definition and Classification Evaluation Prognosis Non-Operative Treatments Surgical ...

  7. Congenital amastia.

    Science.gov (United States)

    Patil, Lingaraja Gowda C; Shivanna, Niranjan Hunasanhalli; Benakappa, Naveen; Ravindranath, Hema; Bhat, Rama

    2013-10-01

    A 3-d-old female baby presented with bilateral congenital absence of breast tissue, areolae and nipples. No other anomalies were noted. There was also a history of absence of nipples, areolae and breast tissue in the mother and two other family members of maternal side. Investigations done during the hospital stay including ultrasound of the chest wall, abdomen and head were all normal. Congenital isolated bilateral amastia was diagnosed after complete investigations. PMID:23255076

  8. Computed tomographic metrizamide myelography in Chiari malformation in adult

    International Nuclear Information System (INIS)

    Three adult patients with a clinical diagnosis of Chiari malformation were examined by computed tomography after intrathecal injection of metrizamide via the lumbar route. In all patients Chiari malformation was demonstrated as a soft tissue oval mass at the level of C1-C2 vertebral body that was intradural and posterior to the medulla and the upper cervical spinal cord. These findings were more accurately visualized in saggital and in frontal reconstructed CTs. In one patient the spinal cord was measurably enlarged at the upper thoracic level. A delayed scan was obtained in another case at 24 hours after the injection and the syrinx was remained opacified whereas the density of cerebrospinal fluid and parenchyma decreased. In the third patient no abnormality of the cord was demonstrated either in CT or myelography. High resolution CT, especially reconstruction-CT appears to be more reliable than myelography and should be the examination of choice in the diagnosis of Chiari malformation. (author)

  9. 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.

  10. Prevalence of congenital anomaly syndromes in a Spanish gypsy population.

    OpenAIRE

    Marti?nez-fri?as, M. L.; Bermejo, E.

    1992-01-01

    We analysed the sample of gypsies included in the Spanish Collaborative Study of Congenital Malformations (ECEMC), a hospital based, case-control study and surveillance system. Special emphasis was placed on the birth prevalence of recessive multiple congenital anomaly syndromes, comparing their frequency in the gypsy population with that observed among non-gypsies. We observed an increased prevalence of birth defects, mostly because of groups of children with patterns of multiple anomalies a...

  11. Isolated congenital tracheal stenosis in a preterm newborn

    OpenAIRE

    Krause, Ulrich; Ro?del, 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 trache...

  12. 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

  13. Congenital Pseudohorseshoe Lung Associated with Scimitar Syndrome

    Directory of Open Access Journals (Sweden)

    Alptekin Tosun

    2012-01-01

    Full Text Available Horseshoe lung is a congenital pulmonary malformation that is usually associated withscimitar syndrome. This malformation consists of fusion of both pulmonary lobes fromthe posterobasal segments. The fusion appears in the retrocardiac area, in front of theesophagus and thoracic aorta. Pleural separation of pulmonary lobes distinguishes pseudohorseshoeappearance from a true horseshoe lung. Scimitar syndrome known as hypogeneticlung syndrome is a part of the congenital pulmonary venolobar syndrome. It is apartial anomalous pulmonary venous return with pulmonary hypoplasia. Scimitar veinis an anomalous drainage vessel between the right pulmonary lobe vessels and the inferiorvena cava. The appearance of the vessel resembles Turkish scimitar; therefore, the syndromeis called scimitar syndrome. We hereby report a 61-year-old woman with adult formcongenital scimitar syndrome and will describe the imaging findings of pseudohorseshoelung appearance.

  14. Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.

    Science.gov (United States)

    Brodsky, Michael C; Turan, Kadriye Erkan; Khanna, Cheryl L; Patton, Alice; Kirmani, Salman

    2014-08-01

    We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis. PMID:24998021

  15. VATER association: report of a case with three unreported malformations.

    OpenAIRE

    Dusmet, M.; Fe?te, F.; Crusi, A.; Cox, J. N.

    1988-01-01

    The VATER association is the sporadic non-random association of Vertebral anomalies, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Renal defects, and Radial limb dysplasia. Cardiac defects are common, as are other limb malformations. The present report describes a premature infant with most of the known major and minor defects of the association as well as agenesis of the bladder and penis and an askeletal rudimentary tail. The latter have not previously been described.

  16. 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)

  17. Neuroimaging of Dandy-Walker malformation: new concepts.

    Science.gov (United States)

    Correa, Gustavo Gumz; Amaral, Lázaro Faria; Vedolin, Leonardo Modesti

    2011-12-01

    Dandy-Walker malformation (DWM) is the most common human cerebellar malformation, characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcular. Although its pathogenesis is not completely understood, there are several genetic loci related to DWM as well as syndromic malformations and congenital infections. Dandy-Walker malformation is associated with other central nervous system abnormalities, including dysgenesis of corpus callosum, ectopic brain tissue, holoprosencephaly, and neural tube defects. Hydrocephalus plays an important role in the development of symptoms and neurological outcome in patients with DWM, and the aim of surgical treatment is usually the control of hydrocephalus and the posterior fossa cyst. Imaging modalities, especially magnetic resonance imaging, are crucial for the diagnosis of DWM and distinguishing this disorder from other cystic posterior fossa lesions. Persistent Blake's cyst is seen as a retrocerebellar fluid collection with cerebrospinal fluid signal intensity and a median line communication with the fourth ventricle, commonly associated with hydrocephalus. Mega cisterna magna presents as an extraaxial fluid collection posteroinferior to an intact cerebellum. Retrocerebellar arachnoid cysts frequently compress the cerebellar hemispheres and the fourth ventricle. Patients with DWM show an enlarged posterior fossa filled with a cystic structure that communicates freely with the fourth ventricle and hypoplastic vermis. Comprehension of hindbrain embryology is of utmost importance for understanding the cerebellar malformations, including DWM, and other related entities. PMID:24132069

  18. Molecular genetics of congenital diaphragmatic defects

    OpenAIRE

    Bielinska, Malgorzata; Jay, Patrick Y.; Erlich, Jonathan M.; Mannisto, Susanna; Urban, Zsolt; Heikinheimo, Markku; Wilson, David B.

    2007-01-01

    Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH. These include genes for transcription factors, molecules involved in cel...

  19. Vertebral chondroblastoma

    International Nuclear Information System (INIS)

    To determine the age distribution, gender, incidence, and imaging findings of vertebral chondroblastoma, and to compare our series with findings from case reports in the world literature.Design and patients Case records and imaging findings of nine histologically documented vertebral chondroblastomas were retrospectively reviewed for patient age, gender, vertebral column location and level, morphology, matrix, edema, soft tissue mass, spinal canal invasion, and metastases. Our findings were compared with a total of nine patients identified from previous publications in the world literature. The histologic findings in our cases was re-reviewed for diagnosis and specifically for features of calcification and secondary aneurysmal bone cyst (ABC). Clinical follow-up was requested from referring institutions. Nine of 856 chondroblastomas arose in vertebrae (incidence 1.4%; thoracic 5, lumbar 1, cervical 2, sacral 1). There were six males and three females ranging in age from 5 to 41 years (mean 28 years). Satisfactory imaging from seven patients revealed the tumor to arise from the posterior elements in four and the body in three. All tumors were expansive, six of seven were aggressive, and the spinal canal was significantly narrowed by bone or soft tissue mass in six. In one patient canal invasion was minimal. Calcification was pronounced in two and subtle in four. The sole nonaggressive-appearing tumor was heavily mineralized. Bony edema and secondary ABC were not seen ony edema and secondary ABC were not seen on MR imaging. None of the cases had microscopic features of significant secondary ABC. Calcification, and specifically ''chicken wire'' calcification, was identified in two patients. Pulmonary metastases occurred in none. Vertebral chondroblastoma is a rare neoplasm that presents later in life than its appendicular counterpart. On imaging it is aggressive in appearance with bone destruction, soft tissue mass, and spinal canal invasion. The lesions contain variable amounts of mineral. Secondary aneurysmal cyst bone formation was not a feature in our study group. (orig.)

  20. Vertebral chondroblastoma

    Energy Technology Data Exchange (ETDEWEB)

    Ilaslan, Hakan; Sundaram, Murali [Department of Radiology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905 (United States); Unni, Krishnan K. [Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905 (United States)

    2003-02-01

    To determine the age distribution, gender, incidence, and imaging findings of vertebral chondroblastoma, and to compare our series with findings from case reports in the world literature.Design and patients Case records and imaging findings of nine histologically documented vertebral chondroblastomas were retrospectively reviewed for patient age, gender, vertebral column location and level, morphology, matrix, edema, soft tissue mass, spinal canal invasion, and metastases. Our findings were compared with a total of nine patients identified from previous publications in the world literature. The histologic findings in our cases was re-reviewed for diagnosis and specifically for features of calcification and secondary aneurysmal bone cyst (ABC). Clinical follow-up was requested from referring institutions. Nine of 856 chondroblastomas arose in vertebrae (incidence 1.4%; thoracic 5, lumbar 1, cervical 2, sacral 1). There were six males and three females ranging in age from 5 to 41 years (mean 28 years). Satisfactory imaging from seven patients revealed the tumor to arise from the posterior elements in four and the body in three. All tumors were expansive, six of seven were aggressive, and the spinal canal was significantly narrowed by bone or soft tissue mass in six. In one patient canal invasion was minimal. Calcification was pronounced in two and subtle in four. The sole nonaggressive-appearing tumor was heavily mineralized. Bony edema and secondary ABC were not seen on MR imaging. None of the cases had microscopic features of significant secondary ABC. Calcification, and specifically ''chicken wire'' calcification, was identified in two patients. Pulmonary metastases occurred in none. Vertebral chondroblastoma is a rare neoplasm that presents later in life than its appendicular counterpart. On imaging it is aggressive in appearance with bone destruction, soft tissue mass, and spinal canal invasion. The lesions contain variable amounts of mineral. Secondary aneurysmal cyst bone formation was not a feature in our study group. (orig.)

  1. Vertebrate Taphonomy

    Science.gov (United States)

    David Goodwin

    In this lab exercise, students investigate taphonomic processes operating on a large vertebrate carcass (whitetail deer: Odocoileus virginianus) in a temperate, humid, terrestrial environment (i.e., central Ohio). Prior to the lab, students read the 1991 review article on terrestrial vertebrate accumulations by A. K. Behrensmeyer. Once in the field, they familiarize themselves with the locality and note the state of the carcass and the position of any disarticulated portions of the beast. Using the stake flags they mark the location of all the elements of the carcass. Next, using the Brunton compasses and the measuring tape, create a map of the site. They then reassemble all the elements of the carcass on the tarp and identify all of the skeletal elements. Finally, the students compare the disarticulated skeleton with a control carcass placed in a wire mesh cage designed to exclude any macro-scavengers. In the lab, student synthesize their results and respond to a series of questions related to vertebrate taphonomy and the quality of the fossil record.

  2. Aborting a malformed fetus: a debatable issue in saudi arabia.

    Science.gov (United States)

    Al-Alaiyan, Saleh; Alfaleh, Khalid M

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  3. 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

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

    Energy Technology Data Exchange (ETDEWEB)

    Kohda, Ehiichi; Shiraga, Nobuyuki; Higuchi, Mutsumi; Ishibashi, Ryouchi [Tachikawa Hospital, Tokyo (Japan)

    2003-02-01

    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. A Case Report of Congenital Megalourethra in A 22-Years-Old Man

    OpenAIRE

    Mohammadi Fard, M.; Habibi, A.

    2008-01-01

    Introduction: Congenital megalourethra is a rare con-genital malformation of the penile urethra, character-ized by sever dilatation of the penie urethra.It is due to the absence of development of the erectile tissue of the penis. Since the initial description, nearly 80 cases with megalourethra have been reported in English literature. Congenital megalourethra traditionally, has been classified into scaphoid and fusiform types and is usually associated with additional urinary tract and other ...

  6. Ruptured Aneurysm of Intercostal Arteriovenous Malformation Associated With Neurofibromatosis Type 1: A Case Report

    International Nuclear Information System (INIS)

    Intercostal arteriovenous malformations (AVM) are rare, with most being secondary to trauma or iatrogenic therapeutic procedures. Only one case of presumably congenital AVM has been reported. Here we report the first case of a ruptured aneurysm of intercostal AVM associated with neurofibromatosis type 1 in a 32-year-old woman who experienced hypovolemic shock caused by massive hemothorax.

  7. Acroangiodermatitis Mali resulting from arteriovenous malformation: report of a case of Stewart-Bluefarb syndrome.

    Science.gov (United States)

    Zutt, M; Emmert, S; Moussa, I; Haas, E; Mitteldorf, C; Bertsch, H P; Neumann, C

    2008-01-01

    We describe the rare Stewart-Bluefarb syndrome in a 15-year-old boy. This syndrome presents as a congenital arteriovenous malformation of the lower leg with multiple arteriovenous shunts accompanied by the benign acroangiodermatitis of Mali (pseudo-Kaposi's sarcoma). The clinical features of this disorder and the treatment options are reviewed. PMID:17927784

  8. 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.)

  9. Incomplete bladder duplication with multiple congenital anomalies: A rare presentation.

    Science.gov (United States)

    Awasthi, Nipun Kumar; Goel, Hemantkumar; Mahapatra, Rajkumarsingha; Pal, Dilipkumar

    2015-01-01

    We report a rare case of incomplete bladder duplication associated with multiple congenital malformation. The patient presented with a symptomatic left pelvi-ureteric junction obstruction which was surgically managed. To the best of our knowledge, this type of bladder duplication with such syndromic association is not yet reported in literature. PMID:25657553

  10. Laser treatment of oral vascular malformations

    Science.gov (United States)

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

    2014-01-01

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

  11. Congenital Defects.

    Science.gov (United States)

    Goldman, Allen S.; And Others

    There are two general categories (not necessarily mutually exclusive) of congenital defects: (1) abnormalities that have an hereditary basis, such as single and multiple genes, or chromosomal abberration; and (2) abnormalities that are caused by nonhereditary factors, such as malnutrition, maternal disease, radiation, infections, drugs, or…

  12. Symptomatic Chiari malformation in infancy and adolescence

    International Nuclear Information System (INIS)

    Of the 7 children and adolescents with Chiari malformation reported here 5 had Chiari type 1 and 2 had Chiari type 2 disease. All 5 Chiari type 1 patients had syringomyelia and scoliosis, but the Chiari type 2 patients did not. All the patients except one with localized syringomyelia (case 3) underwent posterior decompression with suboccipital craniectomy, upper cervical laminectomy and duraplasty, and their clinical signs and symptoms improved. Case 3 received a syringo-subarachnoid shunt and improved clinically. Motor function was restored better than sensory function. Cranial nerve signs were cleared up in the Chiari type 2 patients. In the Chiari type 1 patients postoperative neurological improvement correlated well with the collapse of syringomyelia. Cine MR imaging was useful in the evaluation of CSF dynamics at the cranio-vertebral junction and in the syringomyelic cavity before and after surgery. (author)

  13. Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

    Science.gov (United States)

    Ba?ci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

    2010-01-01

    Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. PMID:20160426

  14. Infants With Bochdalek Diaphragmatic Hernia: Sibling Precurrence and Monozygotic Twin Discordance in a Hospital-Based Malformation Surveillance Program

    OpenAIRE

    Pober, Barbara R.; Lin, Angela; Russell, Meaghan; Ackerman, Kate G.; Chakravorty, Sharmila; Strauss, Bernarda; Westgate, Marie Noel; Wilson, Jay; Donahoe, Patricia K.; Holmes, Lewis B.

    2005-01-01

    Congenital diaphragmatic hernia (CDH) is a common and often devastating birth defect. In order to learn more about possible genetic causes, we reviewed and classified 203 cases of the Bochdalek hernia type identified through the Brigham and Women’s Hospital (BWH) Active Malformation Surveillance Program over a 28-year period. Phenotypically, 55% of the cases had isolated CDH, and 45% had complex CDH defined as CDH in association with additional major malformations or as part of a syndrome. ...

  15. Evaluation of congenital heart disease by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

  16. Evaluation of congenital heart disease by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Roos, A. de; Roest, A.A.W. [Department of Radiology, Leiden University Medical Center (Netherlands)

    2000-01-01

    Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

  17. Ethical language and decision-making for prenatally diagnosed lethal malformations.

    Science.gov (United States)

    Wilkinson, Dominic; de Crespigny, Lachlan; Xafis, Vicki

    2014-10-01

    In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as 'lethal' or as 'incompatible with life'. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated 'lethal' reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of 'futility'. We recommend avoiding the term 'lethal' and suggest that counseling should focus on salient prognostic features instead. For conditions with a high chance of early death or profound impairment in survivors despite treatment, perinatal and neonatal palliative care would be ethical. However, active obstetric and neonatal management, if desired, may also sometimes be appropriate. PMID:25200733

  18. Aneurysmal Malformation of Galen Vein: A Case Report

    Directory of Open Access Journals (Sweden)

    A. Alizadeh

    2008-01-01

    Full Text Available 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 symptoms of neurological deficit, and seizure. CT scan revealed a hypodense well- differentiated round lesion, next to the posterior horn of right lateral ventricle. MRI showed the same findings, with suspicious to the probability of vascular malformation. The patient was sent for angiography and the diagnosis of Galen vein aneurysm confirmed by radiologist."nDiscussion: Understanding the VGAM has advanced greatly during the past two decades, by analyzing the vascular anatomy of VGAM at angiography and cor-relation the findings with the known embryologic development of the cerebral vasculature. The de-nomination of aneurysm of the Galen vein, includes different arteriovenous fistula located in the vicinity of the midbrain that vary from a single large aneu-rismal dilatation of the Galen vein to multiple com-munications between the vein and the carotid and vertebribasilar systems.

  19. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  20. Congenital Hypothyroidism

    OpenAIRE

    LaFranchi Stephen H; Rastogi Maynika V

    1984-01-01

    Abstract Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontan...

  1. Diagnosis by imaging technique in kidney and urinary tract malformations

    International Nuclear Information System (INIS)

    The diagnostic sensitivity of Ultrasound (US) was studied in 142 children with suspected kidney and urinary tract malformations. According to the clinical tests performed the patients underwent excretory urography (EU) and/or voiding cystouretrography (VCU); the results were compared to US findings. In the 75 patients with malformations, US proved to be extremely sensitive in abdominal renal ectopies, in ''horseshoe'' kidney, and in congenital obstructions of the ureteropelvic and vesico-ureteral junctions. US showed a higher sensitivity than EU in identifying multicystic kidney and in most cases of hypodysplasia. On the other hand, VCU was more accurate in vesico-ureteral reflux studies; US should thus be used in the follow-up of the patients undergoing medical therapy. EU must however be considered as the most important tool in the evaluation of early renal injuries and their possible development

  2. Congenital toxoplasmosis.

    Science.gov (United States)

    Martin, S

    2001-06-01

    Toxoplasma gondii, a parasite, has three modes of transmission: oral intake of raw or undercooked meat or contaminated fruits and vegetables, ingestion of materials contaminated with cat feces, and transplacental infection. The focus of this article is congenital toxoplasmosis, which is transmitted to the fetus across the placenta. When primary infection of the mother occurs during pregnancy, there is a 40 percent chance of fetal infection; rate of transmission and severity of infection are related to gestational age at the time of infection. The brain and retina are often affected, and there can be a wide range of clinical disease. Amniocentesis or cordocentesis provides the most accurate diagnosis. At birth, 80-90 percent of infants with congenital toxoplasmosis are asymptomatic. But further testing may reveal retinal and central nervous system abnormalities, and there is a risk of long-term sequelae. Chorioretinitis, hydrocephalus, intracranial calcifications, and convulsions are the typical presentation of classic congenital toxoplasmosis. Serology is the most common method of diagnosing neonatal infection, but more complex tests are also utilized. The prognosis for the untreated infant is poor; however, when antibiotic therapy is started early, the rate of sequelae is reduced significantly. PMID:12143899

  3. Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature

    OpenAIRE

    Srinivas, Bhavanam Hanuma; Puligopu, Aneel Kumar; Sukhla, Dinesh; Ranganath, Prajnya

    2014-01-01

    Spondylo costal dysostosis (SCD) is a genetic skeletal disorder characterized by a variety of costo-vertebral malformations. SCD with type I split cord malformation (SCM) have been reported in the literature. We report an unusual association of SCD with type II SCM. Imaging studies revealed multiple vertebral segmentations, rib malformations, spina bifida and low lying cord with type II SCM at the D12-L3 level. She underwent detethering of the cord. To the best of our knowledge, this is the f...

  4. Rare association of spondylo costal dysostosis with split cord malformations type II: A case report and a brief review of literature

    Science.gov (United States)

    Srinivas, Bhavanam Hanuma; Puligopu, Aneel Kumar; Sukhla, Dinesh; Ranganath, Prajnya

    2014-01-01

    Spondylo costal dysostosis (SCD) is a genetic skeletal disorder characterized by a variety of costo-vertebral malformations. SCD with type I split cord malformation (SCM) have been reported in the literature. We report an unusual association of SCD with type II SCM. Imaging studies revealed multiple vertebral segmentations, rib malformations, spina bifida and low lying cord with type II SCM at the D12-L3 level. She underwent detethering of the cord. To the best of our knowledge, this is the first report of the association of SCD with type II SCM. PMID:25250070

  5. Congenital Choledochal Malformation: Not Just a Problem for Children

    OpenAIRE

    Dabbas, Natalie; Davenport, Mark

    2009-01-01

    Choledochal cysts remain relatively uncommon in Western Europe and the US, although they are appreciably more common in Asia. Their aetiology remains obscure although abnormalities of the pancreaticobiliary junction may be the primary pathology in some, with biliary dilatation following reflux of activated pancreatic secretions. Most anomalies will present in childhood with obstructive jaundice or abdominal pain; a proportion may only present for the first time during adulthood, and some of t...

  6. Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome?

    Science.gov (United States)

    Wankhade, Vaishali; Singh, Rajesh; Sadhwani, Venus; Kodate, Purnima; Disawal, Amit

    2014-01-01

    Klippel-Trenaunay syndrome (KTS) is a cutaneous capillary malformation on a limb in association with soft tissue swelling with or without bony hypertrophy and atypical varicosity. The capillary malformation associated with KTS is port wine stain. Angiokeratoma circumscriptum naeviforme (ACN) is a congenital variant of angiokeratoma commonly present on the lower limb as a hyperkeratotic plaque. ACN is rarely associated with KTS. We report a case of ACN with soft tissue hypertrophy and deep venous malformation (possibly a variant of Klippel-Trenaunay) in a 4-year-old male child. PMID:25593797

  7. Extensive cervical-mediastinal cystic lymphatic malformation treated with sclerotherapy in a child with Klippel-Trenaunay syndrome.

    Science.gov (United States)

    Duman, Levent; Karnak, Ibrahim; Akinci, Devrim; Tanyel, F Cahit

    2006-01-01

    Klippel-Trenaunay syndrome is a rare congenital disorder characterized by combined vascular malformations, varicosities, and limb enlargement. A child case of Klippel-Trenaunay syndrome with a large cervicomediastinal cystic lymphatic malformation and a vascular mass on the chest wall has been presented to demonstrate combined use of conservative and surgical approaches in this syndrome. Cystic lymphatic malformation was treated by sclerotherapies including ultrasound-guided transthoracic bleomycin injection into mediastinal cyst, which was tried for the first time in the literature, and vascular chest wall tumor necessitated surgical excision. PMID:16410083

  8. Classical Triad in Pulmonary Arteriovenous Malformation: Clubbing, Cyanosis and Policytemia

    Directory of Open Access Journals (Sweden)

    Hikmet Tekin Nacaro?lu

    2013-08-01

    Full Text Available Pulmonary arteriovenous malformations (PAVM are generally congenital lesions that results from an abnormal capillary development. Lesions can be presented as an isolated single anomaly, or may be multiple when accompanying with autosomal dominant hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome; ROWS. These cases may be asymptomatic, but exertional dyspnea, palpitations and easy fatigability may also be seen. The classic radiological appearance is a round, well-circumscribed lesions. Computed tomography of thorax and angiography are also useful for diagnosis. Herein, we present 2 and 13 years old girls with the diagnosis of PAVM with clubbing and cyanosis. (Journal of Current Pediatrics 2013;11:92-5

  9. Pediatric glans penis malformations

    Directory of Open Access Journals (Sweden)

    Yi?it Ak?n

    2012-03-01

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

  10. Arteriovenous malformation, 3

    International Nuclear Information System (INIS)

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

  11. Congenital syphilis

    International Nuclear Information System (INIS)

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of me (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  12. When hormone defects cannot explain it: malformative disorders of sex development.

    Science.gov (United States)

    Grinspon, Romina P; Rey, Rodolfo A

    2014-12-01

    The birth of a baby with malformations of the genitalia urges medical action. Even in cases where the condition is not life-threatening, the identification of the external genitalia as male or female is emotionally essential for the family, and genital malformations represent one of the most stressful situations around a newborn. The female or male configuration of the genitalia normally evolves during fetal life according to the genetic, gonadal, and hormonal sex. Disorders of sex development occur when male hormone (androgens and anti-Müllerian hormone) secretion or action is insufficient in the 46,XY fetus or when there is an androgen excess in the 46,XX fetus. However, sex hormone defects during fetal development cannot explain all congenital malformations of the reproductive tract. This review is focused on those congenital conditions in which gonadal function and sex hormone target organ sensitivity are normal and, therefore, not responsible for the genital malformation. Furthermore, because the reproductive and urinary systems share many common pathways in embryo-fetal development, conditions associating urogenital malformations are discussed. PMID:25472912

  13. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

    Science.gov (United States)

    Mohapatra, Bhagyalaxmi; Casey, Brett; Li, Hua; Ho-Dawson, Trang; Smith, Liana; Fernbach, Susan D; Molinari, Laura; Niesh, Stephen R; Jefferies, John Lynn; Craigen, William J; Towbin, Jeffrey A; Belmont, John W; Ware, Stephanie M

    2009-03-01

    NODAL and its signaling pathway are known to play a key role in specification and patterning of vertebrate embryos. Mutations in several genes encoding components of the NODAL signaling pathway have previously been implicated in the pathogenesis of human left-right (LR) patterning defects. Therefore, NODAL, a member of TGF-beta superfamily of developmental regulators, is a strong candidate to be functionally involved in congenital LR axis patterning defects or heterotaxy. Here we have investigated whether variants in NODAL are present in patients with heterotaxy and/or isolated cardiovascular malformations (CVM) thought to be caused by abnormal heart tube looping. Analysis of a large cohort of cases (n = 269) affected with either classic heterotaxy or looping CVM revealed four different missense variants, one in-frame insertion/deletion and two conserved splice site variants in 14 unrelated subjects (14/269, 5.2%). Although similar with regard to other associated defects, individuals with the NODAL mutations had a significantly higher occurrence of pulmonary valve atresia (P = 0.001) compared with cases without a detectable NODAL mutation. Functional analyses demonstrate that the missense variant forms of NODAL exhibit significant impairment of signaling as measured by decreased Cripto (TDGF-1) co-receptor-mediated activation of artificial reporters. Expression of these NODAL proteins also led to reduced induction of Smad2 phosphorylation and impaired Smad2 nuclear import. Taken together, these results support a role for mutations and rare deleterious variants in NODAL as a cause for sporadic human LR patterning defects. PMID:19064609

  14. Angioembolisation in vaginal vascular malformation.

    Directory of Open Access Journals (Sweden)

    Srivastava D

    2001-01-01

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

  15. Imaging of vertebral fractures

    OpenAIRE

    Panda, Ananya; Das, Chandan J.; Baruah, Udismita

    2014-01-01

    Vertebral fracture is a common clinical problem. Osteoporosis is the leading cause of non-traumatic vertebral fracture. Often, vertebral fractures are not clinically suspected due to nonspecific presentation and are overlooked during routine interpretation of radiologic investigations. Moreover, once detected, many a times the radiologist fails to convey to the clinician in a meaningful way. Hence, vertebral fractures are a constant cause of morbidity and mortality. Presence of vertebral frac...

  16. Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

    Directory of Open Access Journals (Sweden)

    Ghachem Maher

    2007-01-01

    Full Text Available Abstract We report a male child with Oromandibular-limb hypogenesis (OMLH, the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT scanning of this area identified: a congenital hypoplasia of the atlas; b the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome.

  17. Vascular malformation and choroid plexus adrenal heterotopia: new findings in Beckwith-Wiedemann syndrome?

    Science.gov (United States)

    Drut, Ricardo; Quijano, Graciela; Altamirano, María Eugenia; Jones, Marta C; Maffessoli, Orlando B

    2006-01-01

    Large congenital arteriovenous malformations (AVM) may result in heart failure and death. We are reporting such combination with the AVM localized to the right thoracobrachial region. Remarkable postmortem findings included right renal and adrenal hemihyperplasia; the right adrenal fetal cortex presenting cytomegaly, endocrine pancreas hyperplasia, and heterotopic adrenal cortex with cytomegaly in the left lateral ventricle choroids plexus. The combination appears to be unique. The only previously reported example of adrenal cortex in the choroid plexus presented several features strongly suggestive of Beckwith-Wiedemann syndrome. Therefore, we postulate that additional uncommon findings in Beckwith-Wiedemann syndrome may include arteriovenous malformations and heterotopic adrenal tissue in choroids plexus. PMID:17162526

  18. Two Congenital Anomalies in One: An Ectopic Gallbladder with Phrygian Cap Deformity

    OpenAIRE

    Vasileios Rafailidis; Sotirios Varelas; Naoum Kotsidis; Dimitrios Rafailidis

    2014-01-01

    The gallbladder is affected by a large number of congenital anomalies, which may affect its location, number, size, or form. Some of these malformations are very rare and may lead to misdiagnosis. An ectopic gallbladder can be misinterpreted as agenesis of the organ or as a cystic hepatic mass when intrahepatic. Given the frequency and the wide acceptance of the ultrasonographic examination of the biliary tract, radiologists should be aware of these malformations. In some cases, ultrasonograp...

  19. Osteoporotic Vertebral Compression Fractures and Vertebral Augmentation

    OpenAIRE

    Kondo, Kimi L.

    2008-01-01

    Vertebral fractures account for ~27% of all osteoporotic fractures in both men and women. The economic burden is substantial and growing: osteoporosis is expected to affect 14 million people by the year 2020. There is substantial morbidity associated with osteoporotic vertebral compression fractures (VCFs) including decreased quality of life, reduced pulmonary function, and increased mortality. Relatively recent additions to the treatment armamentarium include vertebral augmentation using ver...

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

    International Nuclear Information System (INIS)

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1997-10-01

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

  2. MRI of cardiovascular malformations

    International Nuclear Information System (INIS)

    MRI is a non-invasive and non-ionizing imaging modality that is perfectly suited for the diagnosis and follow-up of both pediatric and adult congenital heart disease. It provides a large field of view and has the unique ability to depict complex cardiac and vascular anatomy and to measure cardiac function and flow within one examination. MRI is the ideal complement to echocardiography whenever the information provided by the latter is limited. This book has been conceived as a self-teaching manual that will assist qualified radiologists, cardiologists, and pediatricians, as well as those in training. It is richly illustrated with numerous images and drawings that cover all usual and most unusual anomalies. The principal author, Professor Bruno Kastler, is head of radiology at Besancon University Hospital, France and is board certified in both radiology and cardiology. (orig.)

  3. MRI of cardiovascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Kastler, Bruno [Centre Hospitalier Univ. Jean Minjoz, Besancon (France); Universite de Franche-Comte, Besancon (FR). Lab. I4S (Health, Innovation, Intervention, Imaging, Engineering); Centre Hospitalier Sherbrooke Univ., PQ (Canada). Dept. of Radiology

    2011-07-01

    MRI is a non-invasive and non-ionizing imaging modality that is perfectly suited for the diagnosis and follow-up of both pediatric and adult congenital heart disease. It provides a large field of view and has the unique ability to depict complex cardiac and vascular anatomy and to measure cardiac function and flow within one examination. MRI is the ideal complement to echocardiography whenever the information provided by the latter is limited. This book has been conceived as a self-teaching manual that will assist qualified radiologists, cardiologists, and pediatricians, as well as those in training. It is richly illustrated with numerous images and drawings that cover all usual and most unusual anomalies. The principal author, Professor Bruno Kastler, is head of radiology at Besancon University Hospital, France and is board certified in both radiology and cardiology. (orig.)

  4. Congenital diseases and syndromes. An illustrated radiological guide

    Energy Technology Data Exchange (ETDEWEB)

    Al-Tubaikh, Jarrah Ali [Universitaetsklinikum Muenchen, Klinikum Grosshadern (Germany). Inst. fuer Klinische Radiologie; Sabah Hospital (Kuwait). Dept. of Diagnostic Radiology; Reiser, Maximilian F. [Universitaetsklinikum Muenchen, Klinikum Grosshadern (Germany). Inst. fuer Klinische Radiologie

    2009-07-01

    Congenital Diseases and Syndromes - An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. The book is organised according to body system, with chapters focusing on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phakomatosis. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes. (orig.)

  5. Congenital hypothyroidism.

    Science.gov (United States)

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15?gm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  6. Congenital hypothyroidism

    Science.gov (United States)

    Agrawal, Pankaj; Philip, Rajeev; Saran, Sanjay; Gutch, Manish; Razi, Mohd Sayed; Agroiya, Puspalata; Gupta, Keshavkumar

    2015-01-01

    Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4) or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ) and the age at diagnosis. Levothyroxine (l-thyroxine) is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15?gm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential. PMID:25729683

  7. The surgical treatment for congenital atlantoaxial dislocation

    Directory of Open Access Journals (Sweden)

    WANG Kun

    2012-08-01

    Full Text Available Congenital atlantoaxial dislocation (CAAD is one common disease of craniovertebral junction (CVJ malformations, which diagnosis depends on CT and MRI. The treatment of CAAD is complex, as a result, the corresponding surgical techniques are different, mainly includes anterioposterior combined approach surgery, single anterior approach surgery and single posterior approach surgery. There is also simple posterior decompression surgery, but it seems not convincible. The complications related to different surgical techniques are various, hence we suggest the experienced neurosurgeons to investigate such operations.

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

    Directory of Open Access Journals (Sweden)

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

    2014-11-01

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

  9. No effects of dioxin singly on limb malformations in macaque monkeys through epidemiological and treated studies

    Energy Technology Data Exchange (ETDEWEB)

    Asaoka, Kazuo; Iida, Hiroko [Kyoto Univ. (Japan). Primate Research Insitute, Dept. of Molecular and Cellular Biochemistry; Watanabe, Kunio [Kyoto Univ. (Japan). Primate Research Institute, Field Research Center; Goda, Hiroshi [Towa Kagaku Co., Ltd. (Japan); Ihara, Toshio; Nagata, Ryoichi [Shin Nippon Biomedical Laboratories, Ltd. (Japan). Safety Research Facility; Yasuda, Mineo [Hiroshima International Univ. (Japan). Fac. of Health Sciences, Dept. of Clinical Engineering; Kubata, Shunichiro [Tokyo Univ. (Japan). Dept. of Life Science, Graduate School of Arts and Sciences

    2004-09-15

    Human populations exposed with highly dioxin were suspected to be caused immunological dysfunctions, carcinogenesis, and developmental and reproductive dysfunctions. Because of species resemblances, the dioxin effects have been investigating using monkeys as a model for assessment of dioxin exposure on human health. Since 1957 the limb malformations of monkeys in Japan have been reported. The higher frequency of them was found in provisional groups of monkeys who were given the same kind of food for human. The chromosomal abnormalities are excluded from the factor for the congenital limb malformations that are still producing in Japan. In this study, the relations between dioxin and the limb malformations of macaque monkeys were estimated by the epidemiological and administered researches. The dioxin levels in monkeys were measured at two districts that one has the provisional groups including monkeys with limb malformations and the other has breeding groups never seeing the malformations for a long time. TEQ was calculated by the levels of dioxin isomers in the monkeys and the values show no difference between the two places and between the individuals with and without the limb malformations. 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) was administered via subcutaneous to pregnant rhesus monkeys from the day 20 of gestation to the day 90 after birth. The exposed babies, including the offspring and died in neonatal, had observed normal limbs in the range of 30-300 ng TCDD /kg of body weight.

  10. Bandas de constrição congênitas Congenital constriction bands

    Directory of Open Access Journals (Sweden)

    Arlindo G. Pardini Jr.

    2001-06-01

    Full Text Available A síndrome da banda de constrição congênita é uma patologia rara, de ocorrência ocasional na natureza e não existe predisposição genética. É freqüentemente associada a amputações de dedos ou membros, sindactilia, acrossindactilia (sindactilia fenestrada, mal formações em face, tórax e/ou abdômen. O presente trabalho representa nossa experiência na abordagem e tratamento da Síndrome da Banda de Constrição Congênita. Foram tratados 10 pacientes atendidos em nosso serviço em um período de 20 anos.Congenital Constriction Band Syndrome is a rare pathology, of occasional occurrence in the nature and genetic predisposition doesn't exist. It is frequently associated with amputations of fingers or members, sindactily, acrossindactily (fenestrated sindactily, malformations in face, thorax, and/or abdomen. The present work represents our experience in the evaluation and treatment of the Constriction Congenital Band Syndrome. We have treated and assisted 10 patients in our service in a 20 year-old period.

  11. Acute Porphyria in a Patient with Arnold Chiari Malformation

    Science.gov (United States)

    Shen, Jianbin; O’Keefe, Kevin; Webb, Lisa B.; DeGirolamo, Angela

    2015-01-01

    Patient: Female, 33 Final Diagnosis: Acute porphyria Symptoms: Abdominal pain • alternating bowel habits Medication: Metronidazole • bactrim • oxybutynin Clinical Procedure: EMG • porhyria workup Specialty: Neurology Objective: Rare disease Background: Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with comorbidities. Case Report: A women with Arnold Chiari malformation type II who was treated with oxybutynin and antibiotics, including Bactrim for neurogenic bladder and recurrent urinary tract infection, presented with non-specific abdominal pain, constipation, and diarrhea. After receiving Flagyl for C. difficile colitis, the patient developed psychosis, ascending paralysis, and metabolic derangements. She underwent extensive neurological workup due to her congenital neurological abnormalities, most of which were unremarkable. As a differential diagnosis of Guillain Barré syndrome, acute porphyria was then considered and ultimately proved to be the diagnosis. After hematin administration and intense rehabilitation, the patient slowly recovered from the full-blown acute porphyria attack. Conclusions: This case report, for the first time, documents acute porphyria attack as a result of a sequential combination of 3 common medications. This is the first case report of the concomitant presence of both acute porphyria and Arnold Chiari malformation, 2 genetic disorders with unclear association. PMID:25697467

  12. [Unusual presentation of rib malformation].

    Science.gov (United States)

    Cosson, M-A; Breton, S; Aprahamian, A; Grevent, D; Cheron, G

    2012-11-01

    Rib malformation and anatomical variations are not well known and are still often underdiagnosed. Usually, rib malformations are fortuitously discovered. We describe here the case of a girl, 4 years and 4 months old, who presented at the emergency unit for fever and an anterior tumefaction of the ribcage, without any other symptoms. She was eupneic with a normal pulmonary auscultation and viral tonsillitis with a negative streptococcus test. The thoracic tumefaction was parasternal, painless, and fixed and measured approximately 2.5 × 2cm. Ultrasound findings consisted of a duplicated and hypoechogenic hypertrophy of the sterno-costal cartilage of the 4th left rib. Magnetic resonance imaging (MRI) confirmed the diagnosis of chondral bifidity of the sterno-costal junction of the 4th left rib. Fever, due to the viral tonsillitis, disappeared after 4 days. Rib malformations are rare, often anterior, unilateral, and preferentially located on the 3rd or the 4th rib. The main malformative rib lesions are bifid ribs, rib spurs, and widened ribs. Very rarely, they can be associated with Gorlin-Goltz syndrome or with other malformations such as VATER complex. The main differential diagnoses of these rib malformations are traumatic, tumoral, and infectious etiologies. In case of tumoral diseases, the topography of the lesion focuses the etiologic diagnosis: whereas an anterior and cartilaginous lesion is always benign, a lateral or posterior lesion can be an Ewing sarcoma. Rib malformation investigation consists in meticulous questioning, a complete clinical examination looking for any associated anomaly, completed by basic imaging explorations such as plain thoracic radiography focused on the ribcage and ultrasound. Finally, complementary computerized tomography or preferably MRI, depending on the anatomic location of the lesion, confirms the final diagnosis, as presented in our case report, and removes any uncertainty. PMID:23037576

  13. Computed tomographic features of congenital left ventricular diverticulum.

    Science.gov (United States)

    Dwivedi, Amit N D; Thangiah, Arun G; Rai, Madhukar; Tripathi, Suchi

    2012-01-01

    Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized out-pouching from the cardiac chamber. They are most often found in the left ventricle (LV) but have been reported to occur in all chambers of the heart. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture may be the initial presentation. Diagnosis can be established by echocardiography (EKG), computed tomographic (CT) angiography, and magnetic resonance imaging (MRI). We report a case of congenital left ventricular diverticulum in an adult with no valvular abnormality as an incidental finding in an uncommon location. PMID:22919562

  14. Congenital absence of the portal vein presenting as pulmonary hypertension

    International Nuclear Information System (INIS)

    Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension

  15. Malformación adenomatoidea quística pulmonar Pulmonary cystic adenomatoid malformation

    Directory of Open Access Journals (Sweden)

    Adis Luisa Peña Cedeño

    2012-09-01

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

  16. Pulmonary arteriovenous malformations.

    Science.gov (United States)

    Shovlin, Claire L

    2014-12-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  17. Percutaneous Embolization of Congenital Portosystemic Venous Fistula in an Infant with Down Syndrome

    OpenAIRE

    Pattaraporn Tanya Chun; Terrence Chun; Matthew Files; Nghia Vo; Mcadams, Ryan M.

    2013-01-01

    Congenital intrahepatic portosystemic venous shunts are rare vascular malformations often associated with severe complications. We describe a term male infant with Down syndrome with high output heart failure secondary to a congenital arterial to portal venous fistula that was diagnosed by Doppler ultrasound. Percutaneous embolizations of the left hepatic vein, portal vein, and communicating fistulas were performed without complications, resulting in clinical improvement. A subsequent hepatic...

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

    International Nuclear Information System (INIS)

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

  19. Laparoscopic management of uterine arteriovenous malformation via occlusion of internal iliac arteries.

    Science.gov (United States)

    Levy-Zaubermann, Y; Capmas, Perrine; Legendre, G; Fernandez, H

    2012-01-01

    Uterine arteriovenous malformation (AVM) can be congenital or acquired. When acquired (e.g., fistula), it results from abnormal arteriovenous communication between one or more uterine arteries and a myometrial and/or endometrial venous plexus, without the interposition of a vascular nidus. Arteriovenous malformation is composed of a tortuous net of fragile low-resistant arteriovenous shunts. Other arteries can be involved in fistulas, including ovarian arteries or those from the round ligaments of the uterus, in particular in congenital AVMs, which develop from failure in embryologic differentiation that leads to multiple abnormal vascular connections. In these cases, extension to pelvic vessels other than uterine arteries is frequent. Acquired AVMs often result in trauma to the uterus such as dilation and curettage in 85% of cases, gestational trophoblastic disease, or endometrial carcinoma. PMID:23084688

  20. Congenital abnormalities of the aorta in children and adolescents

    International Nuclear Information System (INIS)

    Aortic abnormalities are common cardiovascular malformations accounting for 15-20% of all congenital heart disease. Ultrafast CT and MR imaging are noninvasive, accurate and robust techniques that can be used in the diagnosis of aortic malformations. While their sensitivity in detecting vascular abnormalities seems to be as good as that of conventional catheter angiocardiography, at over 90%, they are superior in the diagnosis of potentially life-threatening complications, such as tracheal, bronchial, or esophageal compression. It has been shown that more than 80% of small children with aortic abnormalities benefit directly from the use of noninvasive imaging: either cardiac catheterization is no longer necessary or radiation doses and periods of general anesthesia for interventional catheterization procedures can be much reduced. The most important congenital abnormalities of the aorta in children and adolescents are presented with reference to examples, and the value of CT and MR angiography is documented. (orig.)

  1. Pathologically Collapsed Vertebral Body

    Directory of Open Access Journals (Sweden)

    Reza Saadat Mostafavi

    2010-05-01

    Full Text Available An 8-year-old boy, a case of CGD, presenting with quadriparesis "nFindings: Collapsed contiguous vertebral bodies"nSpared disks"nEpidural components extending one level above and below the involved vertebral bodies"nSignal of involved vertebral bodies: low on T1W and high on T2W image

  2. Intralesional radiofrequency in venous malformations.

    Science.gov (United States)

    Garg, S; Kumar, S; Singh, Y B

    2015-03-01

    Venous malformations are usually asymptomatic and managed conservatively. Treatment, in the form of laser, sclerotherapy, or resection, is needed only if lesions present with symptoms or cosmetic deformity. The aim of this study was to find out how effective radiofrequency ablation was in patients with incomplete or unsatisfactory resolution of a venous malformation after an intralesional injection of bleomycin. During the 5 year period 2008-2012, we organised a prospective, clinical study at a tertiary care centre. Patients were selected from the outpatient department of the Lady Hardinge Medical College and associated hospitals, New Delhi, India. Five patients with venous malformations were treated by intralesional injection of bleomycin in a dose of 0.5U/kg body weight, which was repeated every 2 weeks for a total of 8 injections. They then had multiple intralesional radiofrequency ablation every 2 months until a satisfactory outcome was achieved. After the initial 8 doses the reduction in the size of the lesions was minimal (less than 50%). After 2-4 applications of radiofrequency ablation there was appreciable reduction in the size of the lesions (about 80%) with good functional and cosmetic outcomes. Radiofrequency ablation is an effective adjunct for patients with venous malformations of the head and neck that have not responded satisfactorily to intralesional injection of bleomycin. To our knowledge radiofrequency ablation after intralesional injection of bleomycin has not previously been described as a treatment for venous malformations. PMID:25554592

  3. Congenital fibrosis of the extraocular muscles

    Directory of Open Access Journals (Sweden)

    Cooymans Pascale

    2010-01-01

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

  4. Arteriovenous malformation of the pancreas: A case report and review of literature

    OpenAIRE

    Makhoul, Fadi; Kaur, Paramjeet; Johnston, Thomas D.; Jeon, Hoonbae; Gedaly, Roberto; Ranjan, Dinesh

    2008-01-01

    Extrahepatic arteriovenous malformations (AVMs) of the gastrointestinal (GI) tract are rare and mostly asymptomatic congenital anomalies. The present case describes a 45-year-old woman with an AVM in the head of the pancreas, which caused massive GI bleeding that recurred after embolization, and which was subsequently treated with a pylorus-preserving Whipple pancreaticoduodenectomy. The authors then review the available literature pertaining to AVMs of the GI tract, the diagnostic modalities...

  5. The diagnostic value of radiologic examination in brain tumors, malformations and vascular diseases

    International Nuclear Information System (INIS)

    The diagnostic value of neuroradiology, unaided by clinical information, has been studied in brain tumors, vascular diseases and congenital malformations in order to assess the role of radiology in neurology, with emphasis on the CT scan and angiography. For each disease the authors have reviewed their cases, sometimes using a computed program (as with posterior fossa tumors), and the literature in clinical neurology and in neuroradiology. (Auth.)

  6. Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

    OpenAIRE

    Af, Salles Antonio; Lizarraga Karlo J

    2011-01-01

    Abstract Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin) to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the fi...

  7. Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities

    OpenAIRE

    Radmanesh, Farid; Caglayan, Ahmet okay; Silhavy, Jennifer l; Yilmaz, Cahide; Cantagrel, Vincent; Omar, Tarek; Rosti, Bas?ak; Kaymakcalan, Hande; Gabriel, Stacey; Li, Mingfeng; S?estan, Nenad; Bilguvar, Kaya; Dobyns, William b; Zaki, Maha s; Gunel, Murat

    2013-01-01

    Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals...

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

    OpenAIRE

    Zwink Nadine; Jenetzky Ekkehart; Brenner Hermann

    2011-01-01

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

  9. Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.

    Science.gov (United States)

    Radmanesh, Farid; Caglayan, Ahmet Okay; Silhavy, Jennifer L; Yilmaz, Cahide; Cantagrel, Vincent; Omar, Tarek; Rosti, Ba?ak; Kaymakcalan, Hande; Gabriel, Stacey; Li, Mingfeng; Sestan, Nenad; Bilguvar, Kaya; Dobyns, William B; Zaki, Maha S; Gunel, Murat; Gleeson, Joseph G

    2013-03-01

    Cobblestone brain malformation (COB) is a neuronal migration disorder characterized by protrusions of neurons beyond the first cortical layer at the pial surface of the brain. It is usually seen in association with dystroglycanopathy types of congenital muscular dystrophies (CMDs) and ocular abnormalities termed muscle-eye-brain disease. Here we report homozygous deleterious mutations in LAMB1, encoding laminin subunit beta-1, in two families with autosomal-recessive COB. Affected individuals displayed a constellation of brain malformations including cortical gyral and white-matter signal abnormalities, severe cerebellar dysplasia, brainstem hypoplasia, and occipital encephalocele, but they had less apparent ocular or muscular abnormalities than are typically observed in COB. LAMB1 is localized to the pial basement membrane, suggesting that defective connection between radial glial cells and the pial surface mediated by LAMB1 leads to this malformation. PMID:23472759

  10. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

    OpenAIRE

    Rodriguez, Maria M.

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel–Joubert, short rib, Bardet–Biedl, asplenia/polysplenia, heredit...

  11. Computed Tomographic Features of Congenital Left Ventricular Diverticulum

    OpenAIRE

    Dwivedi, Amit N. D.; Thangiah, Arun G.; Rai, Madhukar; Tripathi, Suchi

    2012-01-01

    Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized out-pouching from the cardiac chamber. They are most often found in the left ventricle (LV) but have been reported to occur in all chambers of the heart. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture may be the initial presentation. Diagnosis can be established by echocardiography (EKG), computed tomographic (...

  12. Congenital pulmonary venolobar syndrome: certain atypical presenting signs

    International Nuclear Information System (INIS)

    Co genital lung malformations comprise a heterogeneous group of anomalies affecting the lung parenchyma as well as lung vascularization; they often occur in combination. We present two atypical cases of congenital pulmonary venolobar syndrome presenting as horseshoe lung and as meandering vein, mimicking the scimitar syndrome in a patients with hypogenetic right lung. We stress the value of the computed tomography findings in these abnormalities, as they often make it unnecessary to perform more invasive studies. (Author) 13 refs

  13. Congenital Semilunar Valvulogenesis Defect in Mice Deficient in Phospholipase C?†

    OpenAIRE

    Tadano, Makoto; Edamatsu, Hironori; Minamisawa, Susumu; Yokoyama, Utako; Ishikawa, Yoshihiro; Suzuki, Noboru; Saito, Hiromitsu; Wu, Dongmei; Masago-toda, Misa; Yamawaki-kataoka, Yuriko; Setsu, Tomiyoshi; Terashima, Toshio; Maeda, Sakan; Satoh, Takaya; Kataoka, Tohru

    2005-01-01

    Phospholipase C? is a novel class of phosphoinositide-specific phospholipase C, identified as a downstream effector of Ras and Rap small GTPases. We report here the first genetic analysis of its physiological function with mice whose phospholipase C? is catalytically inactivated by gene targeting. The hearts of mice homozygous for the targeted allele develop congenital malformations of both the aortic and pulmonary valves, which cause a moderate to severe degree of regurgitation with mild s...

  14. Bilateral Congenital Absence of the Stapes Superstructure in Two Siblings

    OpenAIRE

    Jose Ignacio Undabeitia; José Undabeitia; Laura Cianci; Luis Padilla; Eduardo Petreñas; Antonio Municio

    2014-01-01

    Middle ear ossicle malformations are an uncommon event. Among them, the congenital absence of the stapes is a very rare condition that is seldom described in the literature. We report the cases of two women, aged 19 and 22 , who presented with a long history of conductive deafness. An exploratory tympanotomy was performed and the absence of the stapes superstructure and an abnormal position of the facial nerve could be observed. A bone anchored hearing aid (BAHA) was implanted in both patient...

  15. Arteriovenous malformation of the mandible

    International Nuclear Information System (INIS)

    The arteriovenous malformation, an uncommon lesion, is a direct communication between an artery and a vein that bypasses the intervening capillary bed. The authors experienced two cases of arteriovenous malformation in 17-year-old and 18-year-old female patients who had suffered from mandibular pain and gingival bleeding. As a result of careful analysis of clinical and angiographic radiological examinations, we diagnosed them as arteriovenous malformations. The following result were obtained; 1. Main clinical symptoms were dull pain and gingival bleeding on the mandibular body area and redness, pain on palpitation in the lesional sites were also observed. 2. Radiographically, well-defined radiolucent lesions with multiple osteolytic defects were observed. In radionuclide scan, increased uptakes of radioisotope were observed in the lesional sites. 3. Increased venous shunt supplied by the facial, lingual and inferior alveolar arteries was observed in angiography. After embolotherapy was performed, no recurrence was reported during 3 to 6 months follow up.

  16. Caring for adults with congenital cardiac disease: successes and challenges for 2007 and beyond.

    Science.gov (United States)

    Dearani, Joseph A; Connolly, Heidi M; Martinez, Richard; Fontanet, Hector; Webb, Gary D

    2007-09-01

    Patients with congenital cardiac disease require lifelong medical care. Current challenges that face practitioners who care for adults with congenital heart disease include identifying the best location for procedures, which could be a children's hospital, an adult hospital, or a tertiary care facility; providing appropriate antenatal management of pregnant women with congenitally malformed hearts, and continuing this care in the peripartum period; and securing the infrastructure and expertise of the non-cardiac subspecialties, such as nephrology, hepatology, pulmonary medicine, and haematology. The objectives of this review are to outline the common problems that confront this population of patients and the medical community, to identify challenges encountered in establishing a programme for care of adults with congenitally malformed hearts, and to review the spectrum of disease and operations that have been identified in a high volume tertiary care centre for adult patients with congenital cardiac disease. Three chosen examples of the fundamental problems facing the practitioner and patient in the United States of America in 2007 are the neglected patient with congenital cardiac disease, weak infrastructure for adults with congenital cardiac disease, and family planning and management of pregnancy for patients with congenital cardiac disease. Patients with adult congenital cardiac disease often do not receive appropriate surveillance. Three fundamental reasons for this problem are, first, that most adults with congenitally malformed hearts have been lost to follow-up by specialists, and are either receiving community care or no care at all. Second, patients and their families have not been educated about their malformed hearts, what to expect, and how to protect their interests most effectively. Third, adult physicians have not been educated about the complexity of the adult with a congenitally malformed heart. This combination can be fatal for adults with complications related to their congenitally malformed heart, or its prior treatment. Two solutions would improve surveillance and care for the next generation of patients coming out of the care of paediatric cardiologists. The first would be to educate patients and their families during childhood and adolescence. They would learn the names of the diagnoses and treatments, the problems they need to anticipate and avoid, the importance of expert surveillance, career and family planning information, and appropriate self-management. The second solution would be to encourage an orderly transfer of patients from paediatric to adult practice, usually at about 18 years of age, and at the time of graduation from high school. Clinics for adults with congenital cardiac disease depend upon multidisciplinary collaboration with specialties in areas such as congenital cardiac imaging, diagnostic and interventional catheterization, congenital cardiac surgery and anaesthesia, heart failure, transplantation, electrophysiology, reproductive and high risk pregnancy services, genetics, pulmonary hypertension, hepatology, nephrology, haematology, and others. None of these services are easily available "off the rack", although with time, experience, and determination, these services can develop very well. Facilities with experienced personnel to provide competent care for adults with congenital cardiac disease are becoming increasingly available. Parents and patients should learn that these facilities exist, and be directed to one by their paediatric caregivers when the time comes for transition to adult care. With the steady increase in the number of adults with congenital heart disease, an ever increasing number of women with such disease are becoming pregnant. Services are not widely available to assess competently and plan a pregnancy for those with more complex disease. It is essential to have a close interplay between the obstetrician, the adult congenital cardiologist, the fetal medicine perinatologist, and neonatologist. In both a community based programme and a tertiary

  17. Congenital scoliosis in non-identical twins: case reports and literature review

    Science.gov (United States)

    Greenwood, Dean; Bogar, William

    2014-01-01

    Congenital scoliosis due to vertebral anomalies may occur in less than 0.1% of the population. Several different theories have been put forth in the literature to account for the etiology of congenital scoliosis and the vertebral anomalies which contribute to its development. The study of scoliosis in twins has contributed to the understanding of causative factors including genetics, environment and in utero events during embryologic development. Case reports of fraternal (non-identical) juvenile male twins with congenital scoliosis associated with differing congenital vertebral anomalies are presented. Both children were asymptomatic at the time of the initial consultation and showed no signs of neurologic compromise. Rapidly progressive, severe genetic scoliosis requires prudent observation and referral to a pediatric orthopedic surgeon to determine appropriate options for care and to screen for potentially life threatening disorders. Chiropractors may be seen as gatekeepers for scoliosis and a thorough understanding of appropriate standards of care is required. PMID:25202158

  18. Spinal vascular malformations; Spinale Gefaessmalformationen

    Energy Technology Data Exchange (ETDEWEB)

    Yilmaz, U. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany)

    2012-05-15

    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.) [German] Spinale Gefaessmalformationen sind eine Gruppe seltener Erkrankungen mit unterschiedlichen klinischen Praesentationen, die vom asymptomatischen Zufallsbefund bis zur progredienten Tetraparese reichen. Dieser Artikel gibt einen Ueberblick ueber radiologische Befunde sowie klinische und therapeutische Aspekte von spinalen arteriovenoesen Malformationen, Kavernomen und kapillaeren Teleangiektasien. (orig.)

  19. Temporal bone CT analysis of congenital ear anomalies

    International Nuclear Information System (INIS)

    Authors analysed the CT findings of the congenital ear anomalies of twenty-nine patients for 2 years and 3 months. The results were as follows: 1. Most of the patients were under the age of 20 (82.7%) and prevalent in male (72.4%). 2. Clinically, congenital ear anomalies were detected in 20 patients (68.9%), conductive hearing loss in 4, sensorineural hearing loss in 1, and the remained 4 patients were detected incidentally without clinical symptom. 3. In the cases of unilateral involvement of 20 patients, right ear was more common (12/20). Eight of 9 bilateral involvement showed similar degree. 4. The middle ear malformations were found in 22 patients (75.9%) and bilateral in 4 patients. 26 cases of middle ear malformations had been classified by Frey into 4 groups; Group I in 5, Group II in 9, Graoup III in 9 and Group IV in 3. 5. Incidentally found ear anomaly was lateral semicircular canal formed a single cavity with the vestibule in all patients (5 pts.). 6. Inner ear malformations accompanying sensorineural hearing loss were found in 3 patients with bilateral involvement and middle ear malformations were accompanied in 2 patients. The degree of involvement of labyrinth was variable.

  20. [Comparison of magnetic resonance imaging, echocardiography and catheterization in the diagnosis of congenital heart diseases].

    Science.gov (United States)

    Crochet, D; Lefèvre, M; Grossetête, R; Bouhour, J B; Hélias, J; Ghidalia, S; Delumeau, J

    1990-05-01

    The authors compared the diagnostic value of magnetic resonance imaging (MRI), echocardiography and cardiac catheterisation with angiography in 66 patients with congenital heart disease, to determine a diagnostic strategy in the use of these methods of cardiac imaging. The patients were 8 days to 44 years old. The congenital cardiac malformations were classified in three groups: 29 isolated vascular malformations (Group 1), 17 isolated intracardiac malformations (Group 2) and 20 complex malformations (Group 3). MRI was performed in all patients using a high field (1.5 tesla) magnet and spin-echo sequences in multiple incidences. The results were compared with those of echocardiography in 60 patients and/or cardiac catheterisation in 39 cases. Technical evaluation of MRI showed images of diagnostic quality in 62/66 cases (93.9%). MRI provided a diagnostic contribution in 56 cases (85%) which was less important in intracardiac malformations than in the other groups (p less than 0.05). In comparison with other imaging techniques, globally, the diagnostic value of MRI was lower than that of cardiac catheterisation (p less than 0.005) but there was no significant difference between MRI and echocardiography. When the type of malformation was taken into account, MRI was not as useful as catheterisation and echocardiography for the diagnosis of isolated intracardiac malformations (p less than 0.01) but gave comparable results in other malformations. On the other hand, MRI associated with echocardiography was more useful (p less than 0.05) than catheterisation in the diagnosis of complex congenital lesions.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:2114083

  1. Cutaneous manifestations and the Chiari I malformation.

    Science.gov (United States)

    Tubbs, R Shane; Smyth, Matthew D; Wellons, John C; Blount, Jeffrey P; Oakes, W Jerry

    2003-09-01

    This article presents a child with Chiari I malformation and cutis marmorata telangiectatica congenita and reviews the medical literature regarding Chiari I malformation and other cutaneous disorders. In addition to cutis marmorata telangiectatica congenita and Chiari I malformation, our patient exhibited hemihypertrophy, Tourette's syndrome, scoliosis, obsessive-compulsive disorder, and seizures. Other associated findings seen in patients with Chiari I malformation include basilar invagination, Klippel-Feil syndrome, atlantoaxial assimilation, scoliosis from an underlying syrinx, and hydrocephalus. PMID:14629912

  2. Ectrodactyly/split hand feet malformation

    OpenAIRE

    Jindal Geetanjali; Parmar Veena; Gupta Vipul

    2009-01-01

    Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

  3. Clinical and radiological findings in arnold chiari malformation

    International Nuclear Information System (INIS)

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

  4. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  5. Congenital Intrahepatic Portosystemic Shunts

    International Nuclear Information System (INIS)

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  6. PAX2 in human kidney malformations and disease.

    Science.gov (United States)

    Harshman, Lyndsay A; Brophy, Patrick D

    2012-08-01

    Human PAX2 mutations have been associated with abnormalities in the developing and adult kidney ranging from congenital abnormalities of the kidney and urinary tract (CAKUT) to oncogenic processes. Defining the relationship of PAX2 to human renal disease requires an appreciation of its fundamental role in renal development. Given the highly conserved nature of the PAX2 gene in vertebrates, it is not surprising that much of our understanding of PAX2 involvement in renal disease has been derived from animal models. The following review will outline the current evidence supporting involvement of PAX2 in the pathologic processes involving the kidney. PMID:22138676

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

    Science.gov (United States)

    Calvo-Garcia, Maria A; Lim, Foong-Yen; Stanek, Jerzy; Bitters, Constance; Kline-Fath, Beth M

    2014-04-01

    We present a prenatal case of congenital peribronchial myofibroblastic tumor referred as a congenital pulmonary airway malformation (CPAM) with hydrops and polyhydramnios at 30 weeks' gestational age. US and fetal MRI findings did not fit with the referral diagnosis, raising the possibility of intrinsic lung tumor. Fetal hydrops worsened and the baby was successfully delivered by ex utero intrapartum treatment (EXIT) to resection at 31 weeks' gestational age. To the best of our knowledge, this is a unique case of congenital peribronchial myofibroblastic tumor that underwent comprehensive prenatal evaluation and EXIT procedure with good outcome. PMID:24169903

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-04-15

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

  9. Congenital absence of the portal vein in oculoauriculovertebral dysplasia (Goldenhar syndrome)

    International Nuclear Information System (INIS)

    Absence of the portal vein with systemic visceral venous return was demonstrated in an 8-year old girl with oculoauriculovertebral dysplasia (Goldenhar syndrome) during preoperative evaluation of a liver mass. Congenital absence of the portal vein is a rare malformation of potential clinical significance. (orig.)

  10. Congenital absence of the portal vein in oculoauriculovertebral dysplasia (Goldenhar syndrome)

    Energy Technology Data Exchange (ETDEWEB)

    Morse, S.S.; Taylor, K.J.W.; Strauss, E.B.; Ramirez, E.; Seashore, J.H.

    1986-07-01

    Absence of the portal vein with systemic visceral venous return was demonstrated in an 8-year old girl with oculoauriculovertebral dysplasia (Goldenhar syndrome) during preoperative evaluation of a liver mass. Congenital absence of the portal vein is a rare malformation of potential clinical significance.

  11. Congenital Goitrous Hypothyroidism, Deafness and Iodide Organification Defect in Four Siblings: Pendred or Pseudo?Pendred Syndrome?

    OpenAIRE

    Kara, Cengiz; K?l?c?, Mehtap; Uc?aktu?rk, Ahmet; Ayd?n, Murat

    2010-01-01

    Pendred syndrome (PDS) is an autosomal recessive disorder characterized by congenital deafness, goiter and iodide organification defect. Presence of inner ear malformations is essential for the clinical diagnosis. Most individuals with PDS are clinically and biochemically euthyroid. Mutations in the PDS gene encoding pendrin protein have been shown to be associated with PDS. It has been recently demonstrated that some families with features of PDS do not have the inner ear malformations and m...

  12. [Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

    Science.gov (United States)

    Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

    2015-01-01

    Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy. PMID:25650280

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

    International Nuclear Information System (INIS)

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2005-02-01

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

  15. Cystic malformations of the posterior fossa: differential diagnosis clarified through embryologic analysis.

    Science.gov (United States)

    Kollias, S S; Ball, W S; Prenger, E C

    1993-11-01

    Cystic or cyst-like malformations of the posterior fossa represent a spectrum of disorders, including the Dandy-Walker malformation, vermian-cerebellar hypoplasia, mega cisterna magna, and arachnoid cyst. Differentiation of these lesions may be difficult with routine cross-sectional imaging; however, an accurate diagnosis is essential for proper treatment planning and genetic counseling. Dandy-Walker malformation is easily diagnosed on the basis of the classic triad: complete or partial agenesis of the vermis, cystic dilatation of the fourth ventricle, and enlarged posterior fossa. Vermian-cerebellar hypoplasia is a general classification that describes congenital malformations with a normal-sized posterior fossa, varying degrees of vermian and cerebellar hypoplasia, and a prominent retrocerebellar cerebrospinal fluid space that communicates freely with a normal or dilated fourth ventricle. Mega cisterna magna can be asymmetric and can manifest apparent mass effect, simulating the appearance of an arachnoid cyst; therefore, ventriculography or cisternography may be needed to demonstrate communication of the cystic mass with the subarachnoid space. A careful review of the embryologic development is essential in understanding these malformations and in making a more accurate radiologic diagnosis. PMID:8031352

  16. Light microscopic, immunohistochemical, and ultrastructural findings in congenital fibular aplasia or hypoplasia (FAH).

    Science.gov (United States)

    Hermanns-Sachweh, Benita; Stemper, Anne; Klosterhalfen, Bernd; Senderek, Jan; Büttner, Reinhard; Weber, Michael

    2005-01-01

    Congenital aplasia or hypoplasia of the fibula (FAH) is a rare malformation that is defined by a partial or complete absence of the fibular bone. Etiology and pathogenesis are unknown and the precise morphology of the tissue cord replacing the malformed fibula has not been well described. Therefore, tissue cord was examined in 8 patients with FAH. Light microscopic, immunohistochemical, and electron microscopic investigations showed a core of embryonic cartilage with collagen II and VI expressions surrounded by connective tissue. Although collagen II expression is typical for chondroid differentiation, collagen VI reactivity is normally seen in articular cartilage and tendon-like fibrocartilaginous tissue but is absent in hyaline cartilage. Further ultrastructural analyses by electron microscopy supported these findings. The histomorphologic changes correspond to the histologic findings of Papenbrock et al. (2000, Mech Dev 92:113-123) who produced a congenital malformation in transgenic mice that resembled FAH by overexpression of Hox c11. PMID:16211453

  17. Magnetic resonance imaging of congenital abnormalities of the thoracic aorta

    International Nuclear Information System (INIS)

    This article outlines the ability of MR imaging in the detection and presurgical evaluation of congenital abnormalities of the thoracic aorta (CATA). Congenital abnormalities of the thoracic aorta may be found incidentally on chest radiographs in patients without symptoms, or it can be associated with clinical findings which are very variable depending on the association with congenital cardiac malformations or vascular ring. When CATA is suspected as the cause of anomalies in the mediastinum in asymptomatic patients, confirmation of the abnormality should be by MR imaging allowing precise evaluation of the thoracic aorta and origin of the principal arteries. When CATA is considered because clinical findings indicate coarctation of the aorta, vascular ring or associated cardiac disorder, evaluation with ultrasound can be complemented by MR, which in most cases will replace the diagnostic catheterization. (orig.)

  18. [The genetic consequences of the Chernobyl accident. The monitoring of congenital developmental defects in newborn infants in Kaluga Province].

    Science.gov (United States)

    Guzeev, G G; Kalabushkin, B A

    1995-01-01

    The study concentrates on the genetic after-effects of the Chernobyl accident in some districts of Kaluga Province. 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 (256/10,000) as compared with the control one (27/10,000). We assume that the observed effect is mainly connected with the professional activity of the population. PMID:7489096

  19. Prenatal diagnosis of lung cystic adenomatoid malformation: About 2 cases

    International Nuclear Information System (INIS)

    The congenital cystic adenomatoid malformation of the lung is a rare fetal affection with an incidence of 1:25000 to 1:35000 pregnancies. It is characterized by a lung mass with excessive proliferation of bronchial structures. The prenatal ultrasound findings is based on the demonstration of a lung tumor that can be ecogenic, cystic, or mixed. We present two cases diagnosed prenatally in the municipality of Varadero, calling the attention their presence in 2 families in oneself town and in the same period of time. Emphasis is made in the ultrasound findings, as well as in the results of the patology confirmations. Is carried out a bibliographical revision on the topic, with ends of improving the evaluation of the genetic risk from the primary attention

  20. Perinatal risk factors including malformation

    International Nuclear Information System (INIS)

    The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG)

  1. Congenital anomalies of the spine: radiologic findings

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Jung Kyu; Kim, Sang Won; Ryu, Kyung Nam [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

    2003-04-01

    Congenital anomalies of the spine are frequent and variable. Some are restricted to skeletal structures, while others involve combine neural tube defects or are associated with other multi-systemic disorders. Structural spinal anomalies can be classified according to their location: 1) the vertebral body, 2) the articular process, 3) the lamina with spinous process, 4) the pars interarticularis, 5) the facet joint, 6) the pedicle, or 7) other. Because of similarities between these congenital anomalies and (a) secondary changes involving infection or joint disease and (b) deformities resulting from trauma and uncertain tumorous conditions, significant confusion can occur during diagnosis. Moreover, since the anomalies often give rise to both functional impairment and cosmetic problem, appropriate treatment relies crucially on accurate diagnosis. The authors illustrate the pathogenesis and radiologic findings of the relatively common spinal anomalies confined to skeletal structures.

  2. Congenital anomalies of the spine: radiologic findings

    International Nuclear Information System (INIS)

    Congenital anomalies of the spine are frequent and variable. Some are restricted to skeletal structures, while others involve combine neural tube defects or are associated with other multi-systemic disorders. Structural spinal anomalies can be classified according to their location: 1) the vertebral body, 2) the articular process, 3) the lamina with spinous process, 4) the pars interarticularis, 5) the facet joint, 6) the pedicle, or 7) other. Because of similarities between these congenital anomalies and (a) secondary changes involving infection or joint disease and (b) deformities resulting from trauma and uncertain tumorous conditions, significant confusion can occur during diagnosis. Moreover, since the anomalies often give rise to both functional impairment and cosmetic problem, appropriate treatment relies crucially on accurate diagnosis. The authors illustrate the pathogenesis and radiologic findings of the relatively common spinal anomalies confined to skeletal structures

  3. Clinical features of 149 patients with facio-auriculo-vertebral spectrum.

    Science.gov (United States)

    Muñoz-Pedroza, Liliana A; Arenas-Sordo, María L

    2013-01-01

    Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a diagnosis of microtia treated in the Genetics Department. There was no significant difference in the sex of the individuals involved. The mean age was 6.97 years, with a range of 1 to 52 years. We founded positive inbreeding in 14 patients and consanguinity in 1 case. There was a family history of microtia in 37 cases. The most frequent malformations, besides microtia, were facial, costo-vertebral, limb, cardiac, genital, eye and other defects. Patients had a high percentage of family history, which could suggest an autosomal dominant inheritance with reduced penetrance. PMID:23896491

  4. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V.

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  5. Genetics Home Reference: Congenital hypothyroidism

    Science.gov (United States)

    ... Recent literature OMIM Genetic disorder catalog Conditions > Congenital hypothyroidism On this page: Description Genetic changes Inheritance Diagnosis ... Glossary definitions Reviewed May 2006 What is congenital hypothyroidism? Congenital hypothyroidism is a condition that affects infants ...

  6. Ectrodactyly/split hand feet malformation

    Directory of Open Access Journals (Sweden)

    Jindal Geetanjali

    2009-01-01

    Full Text Available Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

  7. Carotid angiography of arteriovenous malformations during operation

    International Nuclear Information System (INIS)

    The value of carotid angiography during operation in the surgical treatment of arteriovenous malformation is illustrated by 4 patients. After obliteration of the main supply to the malformation the blood may be redistributed to possible smaller feeding vessels now dilated and more clearly demonstrable than preoperatively. In some cases, angiography both preoperatively and during operation may be needed for a demonstration of the whole malformation with all its feeding vessels. Angiography during operation reduces the need for postoperative angiography. (Auth.)

  8. Can arteriovenous malformation prevent the diagnosis of brain death?

    Science.gov (United States)

    Ergun, Onur; Birgi, Erdem; Tatar, Idil Gunes; Oztekin, Mehmet Fevzi; Hekimoglu, Baki

    2015-04-01

    We present a case of a 14-year-old boy with spontaneous intracranial hemorrhage that was referred to us to confirm the diagnosis of brain death with cerebral angiography. In the left carotid angiogram, there was no arterial flow above the craniovertebral junction. But in the right carotid angiogram, there was arterial flow up to the level of posterior communicating artery. Right posterior cerebral artery was filled with contrast medium via patent posterior communicating artery and later, an opacifying arteriovenous malformation (AVM) was detected which was also seen in the vertebral angiogram. Although the angiographic findings of the patient did not confirm the angiographic criteria for the diagnosis of brain death, it could not be also excluded because the only cerebral flow was the filling of the AVM and no other cerebral perfusion was detected. PMID:25142907

  9. Effect of Fungicides on Mango Malformation

    OpenAIRE

    Faqir Muhammad; Muhammad Ibrahim; Aslam Pervez, M.

    1999-01-01

    Present studies were carried out to observe the effect of fungicides on mango malformation. The fungicides i.e. Benlate and Topsin-M were used at the rate of 0.2 per cent. Spray was made in July with an idea to control the mango malformation which was found more frequent on late season flushes. Both the fungicides reduced the incidence of malformation during the next blooming season. More number of malformed panicles were observed on untreated plants than treated ones. Among fungicides, Benla...

  10. Acquired Chiari malformation type I associated with a supratentorial fistulous arteriovenous malformation: a case report.

    Science.gov (United States)

    Chen, Kuo-Wei; Kuo, Meng-Fai; Lee, Chung-Wei; Tu, Yong-Kwang

    2015-03-01

    A case of acquired Chiari malformation type I with frontal fistulous arteriovenous malformation (AVM) is presented, and the pathophysiology is discussed. The tonsillar herniation and hydrocephalus both resolved after AVM was excised. This case provides some insight into the complex hemodynamic change exerted by the fistulous AVM and the mechanism of the development of acquired Chiari malformation type I. PMID:25081218

  11. Malformaciones invalidantes en Chile.: Estudio ECLAMC, 1982-1997 / Disabling congenital defects in Chile

    Scientific Electronic Library Online (English)

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

    2001-01-01

    Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: The ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) is an epidemiological surveillance program for congenital defects that operates in Chile since 1969. Aim: To communicate the frequency of disabling congenital defects in Chile in the period 1982-1997. Material [...] and methods: A review of the ECLAMC registry, choosing 12 congenital defects: amelia, limb amputations, limb reductions, arthrogryposis, hip luxation and subluxation, spina bifida, hydrocephaly, microcephaly, cephalocele, talipes equinovarus, Down syndrome and multiple abnormalities. Results: In the study period, 283,403 births occurred and 7,917 newborns were malformed (7,654 born alive and 263 stillbirths). The congenital defects prevalence rates appeared higher in Chile than in other Latin American countries, specially among stillbirths. Among the studied maternity hospitals, the Clinical Hospital of the University of Chile, showed the higher prevalence of congenital defects. Rancagua and the Navy Hospital in Valparaiso have a high frequency of Down syndrome. Global rates in Chile and in the rest of ECLAMC for specific defects, do not have significant differences, except for hip subluxation, that has a lower incidence in Chile. Conclusions: The ECLAMC allows to have a good knowledge of the prevalence of congenital malformations in Latin America (Rev Méd Chile 2001; 129: 67-74).

  12. Malformación adenomatoidea quística pulmonar / Pulmonary cystic adenomatoid malformation

    Scientific Electronic Library Online (English)

    Adis Luisa, Peña Cedeño; Maritza, Pardo Mederos; Elizabeth, Quesada Alemán; Teresa Eufemia, Argüelles Mederos.

    2012-09-01

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

  13. The distribution of congenital anomalies within the VACTERL association among tumor necrosis factor antagonist-exposed pregnancies is similar to the general population

    DEFF Research Database (Denmark)

    Crijns, Hubertina J M J; Jentink, Janneke

    2011-01-01

    To compare the distribution of congenital anomalies within the VACTERL association (vertebral defects, anal atresia, cardiac, tracheoesophageal, renal, and limb abnormalities) between patients exposed to tumor necrosis factor-? (TNF-?) antagonist and the general population.

  14. Sirenomelia phenotype in Bmp7;Shh compound mutants: A novel experimental model for studies of caudal body malformations

    OpenAIRE

    Garrido-allepuz, Carlos; Gonza?lez-lamun?o, Domingo; Ros, Mari?a A.

    2012-01-01

    Sirenomelia is a severe congenital malformation of the lower body characterized by the fusion of the legs into a single lower limb. This striking external phenotype consistently associates severe visceral abnormalities, most commonly of the kidneys, intestine, and genitalia that generally make the condition lethal. Although the causes of sirenomelia remain unknown, clinical studies have yielded two major hypotheses: i) a primary defect in the generation of caudal mesoderm, ii) a primary vascu...

  15. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

    Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the vision: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

  16. ARNOLD – CHIARI MALFORMATION AND SYRINGOMYELIA

    OpenAIRE

    Ibrahimagic, Omer C.; Dzevdet Smajlovic; Mirjana Vidovic; Osman Sinanovic; Adnan Burina

    2009-01-01

    Generally, Arnold – Chiari malformation associated with syringomyelia is not rare. In this case report we present a 52 years old female patient with a history of neck-pain, low-back pain, pain in both arms as well as frequent numbness in the lateral regions of both arms. She also experienced walk disturbance and in her previous history she reports a car accident, twenty-eight years ago. She broke windshield with her forehead, but remained conscious at the time. At the time of admitt...

  17. Congenital heart disease screening: which referral factors are most important

    International Nuclear Information System (INIS)

    To identify the referral factors for fetal echocardiography which are associated with congenital cardiac defects in the fetus. Study Design: Cross-sectional descriptive study. Place and Duration of Study: Radiology Department, CMH, Rawalpindi, from January 2007 to November 2010. Methodology: All patients referred for fetal echocardiography with one or more risk factors for the development of congenital heart disease, and those patients with incidental discovery of congenital heart disease on antenatal ultrasound were evaluated. Patients with no risk factors who were found to have normal fetal echocardiography were excluded from the study. Univariate logistic regression analysis was carried out for each variable. The variables with statistical significance of less than 0.05 were subjected to multivariate logistic regression. Fetal echocardiographic diagnosis was taken as the dependent variable and all other variables were the independent variables. Results: Two hundred and sixty four patients were evaluated by fetal echocardiography for congenital heart disease. The statistically significant factor was detection of congenital heart disease on routine ultrasound examination. Conclusion: A routine obstetric scan should include evaluation of the heart with four-chamber and base-of-heart views to exclude cardiac anomalies. A cardiac anomaly picked up on routine ultrasound scan is the most important indication for referral for fetal echocardiography. Fetal arrhythmias and echogenic focus in the left ventricle do not have a significant association with structural cardiac malformation. (author)

  18. Endovascular Treatment and Selective Image Guided Partial Resection of Epidural Spinal Vascular Malformation in Klippel-Trenaunay Syndrome: Case Report

    Directory of Open Access Journals (Sweden)

    Ramon Navarro

    2014-09-01

    Full Text Available Background: Klippel-Trenaunay-Weber syndrome is a rare congenital condition that may involve the central nervous system with extensive vascular malformations, and soft-tissue hypertrophy of the affected limb. Methods: A 51-year-old patient underwent previous procedures including decompressive laminectomy and endovascular embolization using Onyx and a self-expandable stent. However, recanalization of the malformation was observed, his symptoms progressed, and the decision was made to undergo selective surgical resection with intraoperative image guidance using Stealth system paired with the O-arm. Results: Adequate decompression of the affected spinal cord and cervical roots were obtained, and the patient’s symptoms improved. Conclusion: Since the typical anatomic landmarks were obliterated by the extensive vascular malformation and previous surgery, intraoperative image guidance proved to be very beneficial. This case reports on the usage of spinal navigation to efficiently dissect out the affected nerve roots and avoid vascular injury by referencing the Onyx and stent.

  19. Ovine and Bovine Congenital Abnormalities Associated With Intrauterine Infection With Schmallenberg Virus.

    Science.gov (United States)

    Peperkamp, N H; Luttikholt, S J; Dijkman, R; Vos, J H; Junker, K; Greijdanus, S; Roumen, M P; Garderen, E van; Meertens, N; Maanen, C van; Lievaart, K; Wuyckhuise, L van; Wouda, W

    2014-11-26

    In December 2011, a previously unknown congenital syndrome of arthrogryposis and hydranencephaly in sheep and cattle appeared in the Netherlands as an emerging epizootic due to Schmallenberg virus (SBV). Gross lesions in 102 lambs and 204 calves included porencephaly, hydranencephaly, cerebellar dysplasia and dysplasia of the brainstem and spinal cord, a flattened skull with brachygnathia inferior, arthrogryposis, and vertebral column malformations. Microscopic lesions in the central nervous system showed rarefaction and cavitation in the white matter, as well as degeneration, necrosis, and loss of neurons in the gray matter. Brain and spinal cord lesions were more severe in lambs than in calves. Ovine and bovine cases examined early in the outbreak showed encephalomyelitis. SBV infection was confirmed by real-time quantitative reverse transcription polymerase chain reaction (RT-qPCR) in brain samples in 46 of 102 lambs (45%) and in 32 of 204 calves (16%). Immunohistochemistry, performed on tissue samples from 18 RT-qPCR-positive lambs, confirmed the presence of bunyaviral antigen in neurons of the brain in 16 cases. SBV antibodies were detected by enzyme-linked immunosorbent assay in fetal blood in 56 of 61 sampled ovine cases (92%). In a virus neutralization test, all tested dams of affected newborns, 46 ewes and 190 cows, were seropositive. Compared with other teratogenic viral infections, the pathogenesis and lesions of SBV in sheep and cattle fetuses are similar to those of other ruminant orthobunyaviruses. However, the loss of spinal ventral motor neurons and their tracts, resulting in micromyelia, distinguishes SBV infection from other viral central nervous system lesions in newborn ruminants. PMID:25428409

  20. Vertebral osteomyelitis without disc involvement

    Energy Technology Data Exchange (ETDEWEB)

    Kamani, I.; Syed, I.; Saifuddin, A. E-mail: asaifuddin@aol.com; Green, R.; MacSweeney, F

    2004-10-01

    Vertebral osteomyelitis is most commonly due to pyogenic or granulomatous infection and typically results in the combined involvement of the intervertebral disc and adjacent vertebral bodies. Non-infective causes include the related conditions of chronic recurrent multifocal osteomyelitis (CRMO) and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome. Occasionally, these conditions may present purely within the vertebral body, resulting in various combinations of vertebral marrow oedema and sclerosis, destructive lesions of the vertebral body and pathological vertebral collapse, thus mimicking neoplastic disease. This review illustrates the imaging features of vertebral osteomyelitis without disc involvement, with emphasis on magnetic resonance imaging (MRI) findings.

  1. Vertebral osteomyelitis without disc involvement

    International Nuclear Information System (INIS)

    Vertebral osteomyelitis is most commonly due to pyogenic or granulomatous infection and typically results in the combined involvement of the intervertebral disc and adjacent vertebral bodies. Non-infective causes include the related conditions of chronic recurrent multifocal osteomyelitis (CRMO) and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome. Occasionally, these conditions may present purely within the vertebral body, resulting in various combinations of vertebral marrow oedema and sclerosis, destructive lesions of the vertebral body and pathological vertebral collapse, thus mimicking neoplastic disease. This review illustrates the imaging features of vertebral osteomyelitis without disc involvement, with emphasis on magnetic resonance imaging (MRI) findings

  2. Vascular tumors and malformations of the colon

    Directory of Open Access Journals (Sweden)

    Israel Fernandez-Pineda

    2009-11-01

    Full Text Available The term “hemangioma” refers to the common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. It may cause confusion with venous malformations that are often incorrectly called “cavernous hemangioma”. Venous malformations comprise abnormally formed channels that are lined by quiescent endothelium. Accurate diagnosis is required for selecting the appropriate treatment.

  3. Vascular tumors and malformations of the colon

    OpenAIRE

    Israel Fernandez-Pineda

    2009-01-01

    The term “hemangioma” refers to the common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. It may cause confusion with venous malformations that are often incorrectly called “cavernous hemangioma”. Venous malformations comprise abnormally formed channels that are lined by quiescent endothelium. Accurate diagnosis is required for selecting the appropriate treatment.

  4. Anesthesia and intracranial arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Sinha Prabhat

    2004-04-01

    Full Text Available Anesthetic management of intracranial arteriovenous malformation (AVM poses multiple challenges to the anesthesiologist in view of its complex and poorly understood pathophysiology and multiple modalities for its treatment involving different sub-specialties. The diagnosis of AVM is based on clinical presentation as well as radiological investigation. Pregnant patients with intracranial AVM and neonates with vein of Galen malformation may also pose a special challenge and require close attention. Despite technological advancement, reported morbidity or mortality after AVM treatment remains high and largely depends on age of the patient, recruitment of perforating vessels, its size, location in the brain, history of previous bleed and post-treatment hyperemic complication. Anesthetic management includes a thorough preoperative visit with meticulous planning based on different modalities of treatment including anesthesia for radiological investigation. Proper attention should be directed while transporting the patient for the procedure. Protection of the airway, adequate monitoring, and maintaining neurological and cardiovascular stability, and the patient?s immobility during the radiological procedures, appreciation and management of various complications that can occur during and after the procedure and meticulous ICU management is essential.

  5. ARNOLD – CHIARI MALFORMATION AND SYRINGOMYELIA

    Directory of Open Access Journals (Sweden)

    Omer C Ibrahimagic

    2009-06-01

    Full Text Available Generally, Arnold – Chiari malformation associated with syringomyelia is not rare. In this case report we present a 52 years old female patient with a history of neck-pain, low-back pain, pain in both arms as well as frequent numbness in the lateral regions of both arms. She also experienced walk disturbance and in her previous history she reports a car accident, twenty-eight years ago. She broke windshield with her forehead, but remained conscious at the time. At the time of admittance at the Department of Neurology, her neurological status was remarkable for cerebellar symptomatology (ataxia, positive Romberg-sign, «finger–nose» test which she did with tremor and was not able to perform «tandem-walk», hypoestesia of the right side of the body, hyper-reflection of both arms and legs, bilaterally, more pronounced at the right side; right foot subclonus and spastic-ataxic walk. Neurological status could not be explained by previously performed tests: x-ray of cervical spine, lumbal myelography, computerized tomography (CT of the brain. However, magnetic resonance imaging (MRI of the brain and cervical spine verified Arnold-Chiari malformation (type I associated with syringomyelia from C3 to C7. Patient was referred to surgery and subsequent physical rehabilitation.

  6. Cerebellar arteriovenous malformations in children

    International Nuclear Information System (INIS)

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.)

  7. Subfascial involvement in glomuvenous malformation

    International Nuclear Information System (INIS)

    Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

  8. GIANT CYSTIC CERVICAL LYMPHATIC MALFORMATION

    Directory of Open Access Journals (Sweden)

    N. Danila

    2006-01-01

    Full Text Available The lymphatic malformations of the neck (LMN are rare diseases, which increase progressively until very large size. The clinical symptoms are pressure signs, due to the compression to the respiratory, digestive and vascular structures of the neck. The authors are presenting the clinical case of a 77 yo male patient with history of simple diffuse goiter. During the evolution, the cervical mass increases progressively its sizes, but in the last 2-3 months before the admission in our clinic the patient describes a rapid and marked growth, with the settle down of the cervical pressure signs. The imagistic evaluation of the cervical mass establishes the diagnosis of cystic cervical tumour that belongs probably to the thyroid gland. The surgical approach succeeds to remove a cystic tumor of 20x15 cm with an irregular round shape. The pathologic histological examination establishes the diagnosis of distended lymphatic channel corresponding to a cystic cervical lymphatic malformation. Postoperative course was uneventful. Conclusions: LMN is a rare disease which can be confound with a goiter. Surgery remains the single effective therapeutic approach.

  9. Subfascial involvement in glomuvenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shaikh, Raja; Alomari, Ahmad I.; Chaudry, Gulraiz [Boston Children' s Hospital, Division of Interventional Radiology, Boston, MA (United States); Mulliken, John B. [Boston Children' s Hospital, Division of Plastic Surgery, Boston, MA (United States); Fishman, Steven J. [Boston Children' s Hospital, Department of Surgery, Boston, MA (United States); Kozakewich, Harry P.W. [Boston Children' s Hospital, Department of Pathology, Boston, MA (United States)

    2014-07-15

    Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

  10. Arnold Chiari Malformation with Spina Bifida: A Lost Opportunity of Folic Acid Supplementation

    Science.gov (United States)

    Sagayaraj, Benjamin M; Barua, Ravi Kumar; Sharma, Nidhi; Ranga, Upasana

    2014-01-01

    In Arnold Chiari (kee-AHR-ee) II malformation elongated cerebellar tonsils are displaced inferiorly through the Foramen Magnum into the upper cervical spinal canal. It is a complex anomaly with skull, dura, brain, spine and cord manifestations. Meningomyelocele is seen in all cases. We present a case of type II Arnold Chiari Malformation diagnosed in utero in a pregnant lady .There was no periconceptional folic acid supplementation. As the role of the Methylene Tetra Hydro Folate Reductase gene polymorphism in neural tube defects is becoming evident, a simple opportunity as folic acid supplementation should not be missed. Folate supplementation as fortification of cereal grains will also prevent other conditions like congenital heart defects, urinary tract anomalies, orofacial defects, limb defects and pyloric stenosis. PMID:25653995

  11. Regression of pulmonary vascular disease after therapy of Abernethy malformation in visceral heterotaxy.

    Science.gov (United States)

    Raghuram, Krishnan A; Bijulal, Sasidharan; Krishnamoorthy, Kavasseri M; Tharakan, Jaganmohan A

    2013-01-01

    A 1-year-old boy who had left isomerism and corrected transposition of the great arteries (c-TGA) with moderate-sized ventricular septal defect, severe pulmonary artery hypertension (PAH), and pulmonary vascular disease with significant right-to-left shunting received a diagnosis of type 2 Abernethy malformation, which was partly responsible for disproportionate PAH in the child. The malformation was treated by plugging of the portosystemic shunt. Follow-up cardiac catheterization on sildenafil demonstrated significant left-to-right shunting (2.16:1) and a fall in pulmonary vascular resistance, making surgical correction possible. This case highlights the importance of searching for additional rare causes of PAH in patients with congenital heart diseases when the degree of pulmonary hypertension is disproportional to the defect size. PMID:22843201

  12. Arnold Chiari malformation with spina bifida: a lost opportunity of folic Acid supplementation.

    Science.gov (United States)

    Ganesh, Deepa; Sagayaraj, Benjamin M; Barua, Ravi Kumar; Sharma, Nidhi; Ranga, Upasana

    2014-12-01

    In Arnold Chiari (kee-AHR-ee) II malformation elongated cerebellar tonsils are displaced inferiorly through the Foramen Magnum into the upper cervical spinal canal. It is a complex anomaly with skull, dura, brain, spine and cord manifestations. Meningomyelocele is seen in all cases. We present a case of type II Arnold Chiari Malformation diagnosed in utero in a pregnant lady .There was no periconceptional folic acid supplementation. As the role of the Methylene Tetra Hydro Folate Reductase gene polymorphism in neural tube defects is becoming evident, a simple opportunity as folic acid supplementation should not be missed. Folate supplementation as fortification of cereal grains will also prevent other conditions like congenital heart defects, urinary tract anomalies, orofacial defects, limb defects and pyloric stenosis. PMID:25653995

  13. [Hemangiomas and superficial vascular malformations: classification].

    Science.gov (United States)

    Enjolras, O; Herbreteau, D; Lemarchand, F; Riche, M C; Laurian, C; Brette, M D; Merland, J J

    1992-01-01

    Superficial vascular malformations of the face, trunk and limbs are better known today, and they can be divided up into simple and complex vascular malformations. Simple vascular malformations may form five major categories: immature hemangiomas of infants, port-wine stains, capillarovenous angiodysplasias, and arteriovenous fistulae and malformations. Complex angiodysplasias are systematized (Sturge-Weber and Bonnet-Dechaume-Blanc syndromes, Cobb's metameric angiomatosis, Klippel-Trenaunay and Parkes Weber's syndromes) or disseminated (Weber-Osler-Rendu disease and blue rubber-bleb nevus syndrome). Various modalities of treatment may be contemplated, according to the type of malformations, and an interdisciplinary consultation is essential to decide whether a watch-and-wait policy, a physical method (laser), embolization, fibrosing injections, vascular, maxillofacial or plastic surgery, or a successive combination of various techniques should be resorted to. PMID:1588228

  14. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

    OpenAIRE

    Mohapatra, Bhagyalaxmi; Casey, Brett; Li, Hua; Ho-dawson, Trang; Smith, Liana; Fernbach, Susan D.; Molinari, Laura; Niesh, Stephen R.; Jefferies, John Lynn; Craigen, William J.; Towbin, Jeffrey A.; Belmont, John W.; Ware, Stephanie M.

    2008-01-01

    NODAL and its signaling pathway are known to play a key role in specification and patterning of vertebrate embryos. Mutations in several genes encoding components of the NODAL signaling pathway have previously been implicated in the pathogenesis of human left–right (LR) patterning defects. Therefore, NODAL, a member of TGF-? superfamily of developmental regulators, is a strong candidate to be functionally involved in congenital LR axis patterning defects or heterotaxy. Here we have investi...

  15. Imaging of intracranial aneurysms and malformations

    International Nuclear Information System (INIS)

    Full text: Intracranial aneurysm is an abnormal dilatation of the artery, and is found in 1% to 14% of the population. In ninety percent cerebral aneurysms are saccular and develop from the arteries of the circle of Willis or its major branches.The anterior communicating artery represent the most frequent aneurysm (ACoA) 30-35%, by internal carotid artery (ICA) 30%, middle cerebral artery (MCA) 22%, and the posterior circulation 8-10%. Aneurysms typically become symptomatic between the age of 40 to 60 years, after they rupture, producing subarachnoid hemorrhage (SAH) or intracerebral hematomas. Less common are giant aneurysms usually found in middle-aged women and present with signs more indicative of a mass lesion. Vascular malformations of the brain are abnormal arrangements of some of the blood vessels in head. There are several types, each affecting a different part of this network of arteries, capillaries and veins. Can be classified on: Vascular malformations with A-V shunting (Arteriovenous malformations, Dural A-V fistulas, and Vein of Galen malformation), and Vascular malformations without A-V shunting (Developmental venous anomaly, Sinus pericranii, Cavernous malformation, and Capillary telagiectasia). CT angiography (CTA) has been proven to be an excellent tool to visualize intracranial arteries. The average sensitivity of CTA for the detection of intracranial aneurysms reaches 90%. Post-processing allows assessment of the aneurysm and vascular malformation of the aneurysm and vascular malformation with maximum intensity projections (MIP) and surface rendered 3D projections in multiple plains. MR angiography (MRA) is a particle and noninvasive tool for screening of high-risk individuals for aneurysms and vascular malformations. DSA is diagnostic method of choice for assessment of intracranial aneurysms and vascular malformations, and was considered to be a 'gold standard' for evaluation of cerebral vessels

  16. Congenital complete heart block in Klippel-Feil syndrome.

    Science.gov (United States)

    Elumalai, Raja Saravanan; Nainar, Madhu Sankar; Vaidyanathan, Kirthivasan; Somasundaram, Ganesh; Balasubramaniam, Govini

    2013-04-01

    A 36-year-old man with a short neck, low hairline, and mild kyphoscoliosis, presented with history of syncope. Chest radiography revealed a diaphragmatic hernia. Computed tomography demonstrated fusion of C2-C6 vertebral bodies, Electrocardiography indicated complete heart block. Ultrasonography showed a right pelvic kidney. He was diagnosed with Klippel-Feil syndrome and underwent permanent pacemaker implantation and corrective surgery for the congenital diaphragmatic hernia. PMID:24532621

  17. Residual malformations and leg length discrepancy after treatment of fibular hemimelia

    Directory of Open Access Journals (Sweden)

    Soucacos Panayotis N

    2011-09-01

    Full Text Available Abstract Background Fibular hemimelia has been reported as the most common congenital longitudinal deficiency of the long bones. Previous studies have focused on the best treatment options for this congenital condition. There is very little to our knowledge in the literature focused on residual persisting malformations and leg length discrepancy after treatment. Methods Seven patients presenting fibular hemimelia in eight fibulae received treatment between years 1988 and 2001. Pre-treatment average leg length discrepancy was 5.3 cm. All patients presented associated congenital deformities of the ipsilateral leg. Six patients received surgical treatment. Average post-treatment follow up was 9.7 years. Residual malformations and leg length discrepancy were recorded for all patients. It is a retrospective case series study at one institution by two of the presenting authors as senior surgeons. Results Average leg length gained after successful bone lengthening in six patients was 5.06 cm. Although there was a significant functional improvement, a number of residual malformations and leg length inequality was recorded. Residual average leg length discrepancy of 3.1 cm was observed in five patients who completed surgical treatment. Five patients presented a limp. Residual anterior-medial bowing of the tibia was observed in four patients. Calf atrophy was present in all seven patients. Valgus deformity of the ankle was remained in two patients. Conclusions Treatment of fibular hemimelia, even in cases graded as successful, showed to be accompanied by a number of persisting residual deformities and recurrent leg length inequality. Although the number of patients is limited, the high rate of this phenomenon is indicative of the significance of the report. The family and the patients themselves should have the right expectations and will be more co-operative when well informed about this instance. A report of common post-treatment residual deformities should be valuable in best possible treatment planning of fibular hemimelia.

  18. Congenital anomalies associated with hypothyroidism.

    OpenAIRE

    Chanoine, J. P.; Bourdoux, P.; Delange, F.

    1986-01-01

    Seven of the 34 infants identified through the Welsh Hypothyroid Screening Programme have additional congenital abnormalities. Two infants have a previously undescribed syndrome, two have chromosomal abnormalities, two have congenital heart disease, and one has a myelomeningocoele. Congenital hypothyroidism often seems to be associated with other congenital abnormalities.

  19. Utility of spinal MRI in children with anorectal malformation

    International Nuclear Information System (INIS)

    The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion. (orig.)

  20. Developmental lung malformations in children: recent advances in imaging techniques, classification system, and imaging findings.

    Science.gov (United States)

    Thacker, Paul G; Schooler, Gary R; Caplan, Michael J; Lee, Edward Y

    2015-01-01

    Congenital lung anomalies represent a diverse group of developmental malformations of the lung parenchyma, arterial supply, and venous drainage, which may present anywhere from the prenatal period through adulthood. It is imperative for radiologists to be aware of imaging techniques and imaging appearance of these anomalies across the pediatric age range. This review presents the spectrum of these lesions that are often encountered in daily clinical practice. Each anomaly is discussed in terms of underlying etiology, clinical presentation, and imaging characterization with emphasis on the most up-to-date research and treatment. Knowledge of these areas is essential for accurate, timely diagnosis, which aids in optimizing patient outcomes. PMID:25525781

  1. Recurrence of a paediatric arteriovenous malformation 9 years postcomplete excision: case report and review of literature.

    LENUS (Irish Health Repository)

    McCarthy, Claire

    2012-01-01

    Cerebral arteriovenous malformations (AVMs) are a common congenital vascular anomaly, which often present in both children and adults. Surgery is considered curative once postoperative angiography confirms the absence of vessels. We describe a 6-year-old girl, who had a Spetzler-Martin Grade II AVM resected successfully, in which a recurrent AVM was detected on routine follow-up over 9 years post excision. The aetiopathogenesis of this rare occurrence with a review of literature is discussed. Long-term postoperative follow-up in the form of MRI\\/MR angiogram is recommended for all fully resected AVMs in the paediatric age group, anticipating the possibility of future recurrence.

  2. Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata

    Energy Technology Data Exchange (ETDEWEB)

    Mundinger, Gerhard S. [Johns Hopkins Hospital, Division of Plastic, Reconstructive, and Maxillofacial Surgery, Baltimore, MD (United States); Weiss, Clifford; Fishman, Elliot K. [Johns Hopkins Hospital, Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States)

    2009-06-15

    Radiologic manifestations of X-linked chondrodysplasia punctata (CDPX1) typically include chondrodysplasia, epiphyseal stippling, punctate calcification of cartilage, distal phalangeal hypoplasia, and nasal/midface hypoplasia. We present an infant with CDPX1 demonstrating calcification and stenosis of the entire trachea and mainstem bronchi, as well as possible anterior C1 subluxation due to progression of congenital vertebral dysplasia. (orig.)

  3. Midline cerebral malformations and schizophrenia.

    Science.gov (United States)

    Scott, T F; Price, T R; George, M S; Brillman, J; Rothfus, W

    1993-01-01

    To investigate a possible association of midline cerebral malformations with psychotic disorders, MRI and CT scans were blindly evaluated for 52 patients with schizophrenia, 9 with schizoaffective disease, and 79 consecutive nonpsychotic control subjects. Midline abnormalities were present in 10 of 61 patients (16.4%) versus 4 of 79 control subjects (5.1%; P septum pellucidum (SP): 5 had cavum vergae (CaV), 2 had cavum septum pellucidum (CaSP), and 1 had agenesis of the corpus callosum and SP. Of 9 schizoaffective patients, 2 had SP abnormalities: 1 CaV and 1 CaSP. Abnormalities of the SP, especially CaV, were significantly more frequent in women than in men (P < 0.02, chi-square). PMID:8369638

  4. Imaging findings in congenital hepatic fibrosis

    International Nuclear Information System (INIS)

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awarenrticle, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue

  5. Imaging findings in congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

    Akhan, Okan [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)]. E-mail: akhano@tr.net; Karaosmanoglu, Ali Devrim [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey); Ergen, Bilge [Department of Radiology, Hacettepe University, School of Medicine, 06100 Ankara (Turkey)

    2007-01-15

    Congenital hepatic fibrosis (CHF) is a rare congenital multisystemic disorder, mostly inherited in autosomal recessive fashion, primarily affecting renal and hepatobiliary systems. Main underlying process of the disease is the malformation of the ductal plate, the embryological precursor of the biliary system, and secondary biliary strictures and periportal fibrosis ultimately leading to portal hypertension. The natural course of the disease is highly variable ranging from minimally symptomatic disease to true cirrhosis of the liver. However, in most patients the most common manifestations of the diseases that are related to portal hypertension, particularly splenomegaly and bleeding varices. Many other disease processes may co-exist with the disease including Caroli's disease, choledochal cysts and autosomal recessive polycystic kidney disease (ARPKD) reflecting the mulstisystemic nature of the disease. The associating biliary ductal disease led the authors to think that all these entities are a continuum and different reflections of the same underlying pathophysiological process. Although, conventional method of diagnosis of CHF is the liver biopsy the advent of imaging technologies and modalities, today, may permit the correct diagnosis in a non-invasive manner. Characteristic imaging features are generally present and recognition of these findings may obviate liver biopsy while preserving the diagnostic accuracy. In this article, it is aimed to increase the awareness of the practising radiologists to the imaging findings of this uncommon clinical disorder and trail the blaze for future articles relating to this issue.

  6. Bandas de constrição congênitas / Congenital constriction bands

    Scientific Electronic Library Online (English)

    Arlindo G., Pardini Jr.; Marcos Antônio dos, Santos; Afrânio D., Freitas.

    2001-06-01

    Full Text Available SciELO Brazil | Languages: English, Portuguese Abstract in portuguese A síndrome da banda de constrição congênita é uma patologia rara, de ocorrência ocasional na natureza e não existe predisposição genética. É freqüentemente associada a amputações de dedos ou membros, sindactilia, acrossindactilia (sindactilia fenestrada), mal formações em face, tórax e/ou abdômen. O [...] presente trabalho representa nossa experiência na abordagem e tratamento da Síndrome da Banda de Constrição Congênita. Foram tratados 10 pacientes atendidos em nosso serviço em um período de 20 anos. Abstract in english Congenital Constriction Band Syndrome is a rare pathology, of occasional occurrence in the nature and genetic predisposition doesn't exist. It is frequently associated with amputations of fingers or members, sindactily, acrossindactily (fenestrated sindactily), malformations in face, thorax, and/or [...] abdomen. The present work represents our experience in the evaluation and treatment of the Constriction Congenital Band Syndrome. We have treated and assisted 10 patients in our service in a 20 year-old period.

  7. Membrana laríngea congénita / Congenital laryngeal membrane

    Scientific Electronic Library Online (English)

    J., Martínez Blanco; E., García García; C., Suárez Castañón; M. J., Álvarez Zapico.

    2013-09-01

    Full Text Available SciELO Spain | Language: Spanish Abstract in spanish La membrana laríngea congénita es una malformación infrecuente de las vías aéreas. La clínica que produce depende del grado de obstrucción que produzca en dichas vías. Debe tenerse en consideración al realizar el diagnóstico diferencial de la dificultad respiratoria del recién nacido. El tratamiento [...] dependerá asimismo del grado de obstrucción de la vía respiratoria. Se describe el caso de una lactante de dos semanas de vida que presenta afonía desde el nacimiento y dificultad respiratoria en el curso de infecciones de las vías aéreas superiores. Mediante laringoscopia directa, se realiza el diagnóstico de membrana laríngea congénita. El tratamiento realizado consiste en varias intervenciones de vaporización con láser de dióxido de carbono. Abstract in english Congenital laryngeal membrane is a rare malformation of the airways. The symptoms depend on the degree of obstruction that triggers in these pathways. It must be taken into consideration in the differential diagnosis of the newborn respiratory distress. The treatment depends on the degree of airway [...] obstruction. We report the case of an infant 2 weeks old with aphonia from birth and respiratory distress with upper airways infections. She is diagnosed of congenital laryngeal membrane by direct laryngoscopy. The treatment is performed with lasser.

  8. A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.

    Science.gov (United States)

    Cangul, Hakan; Bas, Veysel N; Saglam, Yaman; Kendall, Michaela; Barrett, Timothy G; Maher, Eamonn R; Aycan, Zehra

    2014-11-01

    Congenital hypothyroidism (CH), one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns. CH is most often caused by defects in thyroid development leading to thyroid dysgenesis. The thyroid-stimulating hormone receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with CH. In this study, we aim to determine the genetic alteration in a case with congenital hypothyroidism and heart defects coming from a consanguineous family. We utilized genetic linkage analysis and direct sequencing to achieve our aim. Our results revealed that the family showed linkage to the TSHR locus, and we detected a homozygous nonsense mutation (R609X) in the case. Apart from other cases with the same mutation, our case had accompanying cardiac malformations. Although cardiac malformations are not uncommon in sporadic congenital hypothyroidism, here, they are reported for the first time with R609X mutation in a familial case. PMID:24945425

  9. Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.

    Science.gov (United States)

    Tohyama, Jun; Kato, Mitsuhiro; Kawasaki, Sari; Harada, Naoki; Kawara, Hiroki; Matsui, Takeshi; Akasaka, Noriyuki; Ohashi, Tsukasa; Kobayashi, Yu; Matsumoto, Naomichi

    2011-01-01

    We report on a female patient with Dandy-Walker malformation possibly caused by heterozygous loss of ZIC1 and ZIC4. The patient presented with mental retardation, epilepsy, and multiple congenital malformations including spina bifida, mild dysmorphic facial features including, thick eyebrows, broad nose, full lips, macroglossia, and hypoplasia of the cerebellar vermis with enlargement of the fourth ventricle on brain magnetic resonance imaging, which is consistent with Dandy-Walker malformation. A chromosome analysis showed interstitial deletion of chromosome 3q23-q25.1. Fluorescence in situ hybridization (FISH) and microarray-based genomic analysis revealed the heterozygous deletion of ZIC1 and ZIC4 loci on 3q24. Her facial features were not consistent with those observed in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) involving FOXL2 abnormality. Other deleted genes at 3q23-25.1 might contribute to the dysmorphic facial appearance. A milder phenotype as the Dandy-Walker malformation in our patient supports the idea that modifying loci/genes can influence the development of cerebellar malformation. PMID:21204220

  10. Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT).

    Science.gov (United States)

    Rodriguez, Maria M

    2014-01-01

    This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel-Joubert, short rib, Bardet-Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

  11. Congenital Hypomyelinating Neuropathy (CHN)

    Science.gov (United States)

    ... that influence the formation of myelin, an insulating coating on nerve fibers (axons). CHN is inherited in ... these effects. Disease: Congenital Hypomyelinating Neuropathy Charcot-Marie-Tooth Disease (CMT) Peripheral Neuropathies Printer-friendly version Send ...

  12. Congenital Intranasal Glioma

    OpenAIRE

    Sajad Ahmad Salati; Ajaz Ahmad Rather

    2011-01-01

    Congenital midline swellings of nose are encountered rarely, and nasal gliomas constitute about 5% of such lesions. Various theories have been suggested to explain the pathogenesis. Imaging preferably by MRI is mandated to study the extent and to rule out intracranial extension. Treatment is complete excision, and the approach depends upon the extent of the lesion and availability of expertise. We present the management of one such case of congenital intranasal glioma without any intracranial...

  13. Congenital muscular torticollis

    OpenAIRE

    Nilesh, Kumar; Mukherji, Srijon

    2013-01-01

    Congenital muscular torticollis (CMT) is a rare congenital musculoskeletal disorder characterized by unilateral shortening of the sternocleidomastoid muscle (SCM). It presents in newborn infants or young children with reported incidence ranging from 0.3% to 2%. Owing to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 3½-year-old male child successfully managed by surgical ...

  14. Screening for congenital hypothyroidism.

    OpenAIRE

    Gerard Henry; Sobki, Samia H.; Othman, Johara M.

    1980-01-01

    OBJECTIVES To review the screening program for congenital hypothyroidism in the Riyadh Al-Kharj Hospital Programme, Riyadh, Kingdom of Saudi Arabia, and to investigate the clinical and biochemical characteristics of affected infants. METHODS The study was carried out from 1985 to 2000 in the Clinical Chemistry Division, Department of Pathology, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia. Laboratory data and case notes of infants diagnosed with congenital hypothyroidism wer...

  15. Quistes pulmonares congénitos / Congenital lung cysts

    Scientific Electronic Library Online (English)

    Nuvia, Suárez García; Sergio Germán, Piloña Ruiz; Omar León, Vara Cuesta; Rita Inés, Milians Casanova; Mirka, Rosa Torres.

    2014-06-01

    Full Text Available Introducción: las malformaciones pulmonares congénitas constituyen una alteración en el desarrollo embriológico y fetal de las distintas estructuras pulmonares y una rara expresión de estas son los quistes pulmonares congénitos. Caso clínico: se presenta un recién nacido a término, de buen peso, asi [...] ntomático y estable hasta el tercer día de vida al debutar con un estado de shock séptico secundario, de bronconeumonía complicada con derrame pleural derecho. En los estudios evolutivos hacia el cuarto de día de vida se le diagnostica como hallazgo radiológico la presencia de quistes pulmonares que evolucionan de forma asintomática. Después de una valoración multidisciplinaria es egresado con un seguimiento por su condición de alto riesgo. Actualmente saludable y con buen desarrollo psicomotor. Conclusiones: la importancia del tema que se presenta es que se describe una presentación rara de quistes pulmonares congénitos en un recién nacido que desarrolló un estadio avanzado de sepsis. Abstract in english Introduction: congenital lung malformations constitute an alteration in the embryonic and fetal development of the different lung structures and a rare expression of these congenital lung cysts. Case report: termed newborn, good weight, evolving asymptomatic and stable until the third day of life to [...] debut a state of septic shock secondary to complicated bronchopneumonia with right pleural effusion. In evolutionary studies by the fourth day of life it is diagnosed, as radiological finding, the presence of lung cysts evolving asymptomatically. After a multidisciplinary assessment there is a graduate tracking of their status, with high risk. Currently healthy and good psychomotor development. Conclusions: the importance of the issue presented is a rare presentation of congenital lung cysts in a newborn who developed an advanced stage of sepsis described.

  16. Vertebral spinal osteophytes.

    Science.gov (United States)

    Klaassen, Zachary; Tubbs, R Shane; Apaydin, Nihal; Hage, Robert; Jordan, Robert; Loukas, Marios

    2011-03-01

    Osteoarthritis is a common complication in the elderly and is often associated with osteophyte growth on vertebral bodies. The clinical presentation of vertebral osteophytes is related to anatomical structures adjacent to the spinal column. For instance, cervical osteophytes potentially involve the pharynx and esophagus, leading to dysphagic symptoms that may be accompanied by food aspiration, vocal fold paralysis and obstructive sleep apnea. In addition to anterior cervical osteophytes, posterior and uncinate process osteophytes may form, compressing the spinal cord and vertebral artery blood supply, respectively. Cervical osteophytes have also been shown to form an accessory median atlanto-occipital joint when the relationship between the atlas, dens and basiocciput is involved. In the thorax, the esophagus is often affected by osteophytes and may result in dysphagia. Traumatic and non-traumatic thoracic aorta pseudoaneurysm formation has been attributed to sharp osteophytes lacerating the aorta, a direct complication of the relationship between the aorta anterior vertebral column. Additionally, aspiration pneumonia was reported in patients with compression of a main stem bronchus, due to mechanical compression by thoracic osteophytes. In the lumbar spinal region, the two major structures in close proximity to the spine are the inferior vena cava and abdominal aorta, both of which have been reported to be affected by osteophytes. Treatment of osteophytes is initially conservative with anti-inflammatory medications, followed by surgical removal. Increasing obesity and geriatric populations will continue to result in an array of osteoarthritic degenerative changes such as osteophyte formation. PMID:20383671

  17. Autophagy During Vertebrate Development

    OpenAIRE

    Marta Magariños; Isabel Varela-Nieto; Aburto, Mari?a R.; Hurle?, Juan M.

    2012-01-01

    Autophagy is an evolutionarily conserved catabolic process by which cells degrade their own components through the lysosomal machinery. In physiological conditions, the mechanism is tightly regulated and contributes to maintain a balance between synthesis and degradation in cells undergoing intense metabolic activities. Autophagy is associated with major tissue remodeling processes occurring through the embryonic, fetal and early postnatal periods of vertebrates. Here we survey...

  18. Congenital Left Ventricular Diverticulum Associated with ASD, VSD, and Epigastric Hernia

    Directory of Open Access Journals (Sweden)

    Seyed Mohammad Dalili

    2008-12-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation. Two categories of congenital ventricular diverticulum have been identified with regard to their localization: apical and non-apical. Apical diverticula are always associated with midline thoraco-abdominal defects and other heart malformations. Non-apical diverticula are always isolated defects. Diagnosis is established by imaging studies such as echocardiography, magnetic resonance imaging, or left ventricular angiography. Mode of treatment has to be individually tailored and depends on clinical presentation, accompanying abnormalities, and possible complications. We report a 10-month-old girl with left ventricular apical diverticulum, large atrial septal defect, two small muscular ventricular septal defects, and pulmonary hypertension, associated with epigastric hernia. This patient underwent total surgical repair for intra-cardiac defects as well as diverticular resection.

  19. Transarterial embolization of a hepatic arteriovenous malformation in an infant using Onyx: a case report and review of the differential diagnosis imaging findings.

    Science.gov (United States)

    Bolus, Christopher; Yamada, Ricardo; Alshora, Sama; Hannegan, Christopher; Anderson, Bret

    2014-08-01

    Hepatic arteriovenous malformations are rare congenital lesions associated with significant morbidity and mortality, most commonly from high output cardiac failure. Efficient diagnosis and treatment demands an interdisciplinary approach, and the interventional radiologist plays a pivotal role in both. Imaging is important for diagnostic accuracy and treatment planning, and transcatheter embolization has become an established primary therapy. We report the clinical and imaging findings of a rare hepatic arteriovenous malformation in an infant presenting with high-output cardiac failure and pulmonary artery hypertension that was successfully treated by transarterial embolization using Onyx. PMID:25426243

  20. Congenital Hepatic Fibrosis: An Uncommon Cause of Chronic Renal Failure

    Directory of Open Access Journals (Sweden)

    A Azarfar

    2014-04-01

    Full Text Available Congenital Hepatic Fibrosis (CHF is a rare disease that affects both the liver and kidneys.  Congenital hepatic fibrosis (CHF is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an autosomal recessive polycystic kidney disease (ARPKD. Impaired renal function associated with CHF in adults is caused by an autosomal dominant polycystic kidney disease (ADPKD. Case presentation: We report the case of a 8-year-old Iranian girlwas admitted to our hospital for evaluation ofrenal failure. In patient hepatomegaly was noted incidentally on a routine physical examination and then kidney biopsy showed global sclerosis and   A liver biopsy revealed proliferation of collagen fibres surrounding the portal area, a finding that was compatible with congenital hepatic fibrosisand our patient was scheduled for kidney and  liver transplantation. Conclusion: The relationship of ARPKD to CHF is the subject of substantial controversy. Some clinicians suggest that the two conditions represent one disorder with a range of clinical/pathological presentations Key word: Congenital Hepatic Fibrosis Polycystic Kidney Disease, CRF.

  1. Imaging and management of vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    McCafferty, I.J. [Department of Radiology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Trust, Edgbaston, Birmingham (United Kingdom); Jones, R.G., E-mail: robert.jones@uhb.nhs.uk [Department of Radiology, Queen Elizabeth Hospital Birmingham, University Hospitals Birmingham NHS Trust, Edgbaston, Birmingham (United Kingdom)

    2011-12-15

    Vascular malformations are a diffuse collection of abnormalities that are usually present at birth but may present any time during childhood or as an adult. Historically terminology has been complicated and used interchangeably causing confusion to patients and clinicians alike; however, a structured internationally agreed classification system exists. It is not uncommon for patients with vascular malformations to be referred to various specialties without obtaining a correct diagnosis and appropriate treatment. Vascular malformations can occur anywhere within the body and all patients will require imaging at some stage; therefore, it is important for all radiologists to be aware of the correct terminology and imaging characteristics. This review discusses classification and illustrates salient imaging findings and the modern approach to treatment of vascular malformations.

  2. Glomuvenous malformation: magnetic resonance imaging findings.

    Science.gov (United States)

    Flors, Lucia; Norton, Patrick T; Hagspiel, Klaus D

    2015-02-01

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. PMID:24996811

  3. Prenatally-detected giant lymphatic malformation

    DEFF Research Database (Denmark)

    Sværdborg, Mille; Keller, Johnny

    2011-01-01

    Abstract We present a case of a giant lymphatic malformation of the chest and abdominal wall that was diagnosed in the third trimester of pregnancy. It was treated by one stage excision with good functional and cosmetic outcomes.