Sample records for congenital vertebral malformations

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

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


    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.

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

    Jacobsen F Stig


    Full Text Available Abstract Background Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital vertebral malformations represent a sporadic occurrence, linkage approaches to identify genes associated with human vertebral development are not feasible. We hypothesized that WNT3A mutations might account for a subset of congenital vertebral malformations. Methods A pilot study was performed using a cohort of patients with congenital vertebral malformations spanning the entire vertebral column was characterized. DNA sequence analysis of the WNT3A gene in these 50 patients with congenital vertebral malformations was performed. Results A female patient of African ancestry with congenital scoliosis and a T12-L1 hemivertebrae was found to be heterozygous for a missense variant resulting in the substitution of alanine by threonine at codon 134 in highly conserved exon 3 of the WNT3A gene. This variant was found at a very low prevalence (0.35% in a control population of 443 anonymized subjects and 1.1% in an African population. Conclusion These data suggest that WNT3A does not contribute towards the development of congenital vertebral malformations. Factors such as phenotypic and genetic heterogeneity may underlie our inability to detect mutations in WNT3A in our patient sample.

  3. Progress and perspective of TBX6 gene in congenital vertebral malformations

    Chen, Weisheng; Liu, Jiaqi; Yuan, Dongtang; Zuo, Yuzhi; Liu, Zhenlei; Liu, Sen; Zhu, Qiankun; Qiu, Guixing; Huang, Shishu; Giampietro, Philip F.; Zhang, Feng; Wu, Nan; Wu, Zhihong


    Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes occurring with other malformations and/or clinical features. Disruption of the genesis of paraxial mesoderm, somites or axial bones can result in spinal deformity. In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX...

  4. Loss of col8a1a function during zebrafish embryogenesis results in congenital vertebral malformations.

    Gray, Ryan S; Wilm, Thomas P; Smith, Jeff; Bagnat, Michel; Dale, Rodney M; Topczewski, Jacek; Johnson, Stephen L; Solnica-Krezel, Lilianna


    Congenital vertebral malformations (CVM) occur in 1 in 1000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles ((m531, vu41, vu105)) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue.

  5. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

    Julien Guevar

    Full Text Available The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013 to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations.

  6. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation.

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


    The objectives of this study were: To investigate computer-assisted digital radiographic measurement of Cobb angles in dogs with congenital thoracic vertebral malformations, to determine its intra- and inter-observer reliability and its association with the presence of neurological deficits. Medical records were reviewed (2009-2013) to identify brachycephalic screw-tailed dog breeds with radiographic studies of the thoracic vertebral column and with at least one vertebral malformation present. Twenty-eight dogs were included in the study. The end vertebrae were defined as the cranial end plate of the vertebra cranial to the malformed vertebra and the caudal end plate of the vertebra caudal to the malformed vertebra. Three observers performed the measurements twice. Intraclass correlation coefficients were used to calculate the intra- and inter-observer reliabilities. The intraclass correlation coefficient was excellent for all intra- and inter-observer measurements using this method. There was a significant difference in the kyphotic Cobb angle between dogs with and without associated neurological deficits. The majority of dogs with neurological deficits had a kyphotic Cobb angle higher than 35°. No significant difference in the scoliotic Cobb angle was observed. We concluded that the computer assisted digital radiographic measurement of the Cobb angle for kyphosis and scoliosis is a valid, reproducible and reliable method to quantify the degree of spinal curvature in brachycephalic screw-tailed dog breeds with congenital thoracic vertebral malformations.

  7. Cerebral palsy and congenital malformations

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge;


    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  8. Prevalence of Congenital Malformations

    Akhavan Karbasi Sedighah


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

  9. Congenital Vascular Malformation

    ... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel– ... 3) non-profit organization focused on providing public education and improving awareness about vascular diseases. For more ...

  10. Congenital pseudoarthrosis associated with venous malformation

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


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

  11. Characterization of Live Birth with Congenital Malformations

    Carlos Acosta Batista


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

  12. Congenital malformations of the skull and meninges.

    Kanev, Paul M


    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

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

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


    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.)

  14. Congenital Malformations in River Buffalo (Bubalus bubalis

    Sara Albarella


    Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  15. Congenital Chiari malformations: A review

    Vannemreddy Prasad


    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.

  16. Congenital Malformations in River Buffalo (Bubalus bubalis)

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo


    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  17. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    Bartel-Friedrich, Sylva


    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids.

  18. Congenital malformations of the temporal bone.

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K


    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  19. Congenital spinal malformations; Kongenitale spinale Malformationen

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


    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. Congenital cardiovascular malformations and the fetal circulation.

    Rudolph, A M


    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.

  1. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

    Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.


    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 Novemb

  2. Valproic acid monotherapy in pregnancy and major congenital malformations

    Jentink, Janneke; Loane, Maria A; Dolk, Helen


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

  3. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

    Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)


    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

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

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


    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...

  5. Twin pregnancy in the congenital malformed uterus.

    Heinonen, Pentti K


    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity.

  6. Maternal smoking in pregnancy and risk for congenital malformations

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


    OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010...

  7. Socio- Cultural Variables Of Congenital Malformation In Newborns

    Khan Zulfia


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

  8. Congenital subclavian arteriovenous malformation causing cardiac failure in an adult.

    Anoop, T M; Sreejith, P; Thomas, Joby K; Gailin, B; Jabbar, P K; Ittycheria, Cherian C; George, Raju


    Congenital arteriovenous malformations (AVMs) of the thoracic region are rarely reported in adults. The authors report an unusual case of a 30-year-old man who presented with a large congenital AVM and heart failure. The diagnosis was made using transthoracic Doppler echocardiography and computed tomography. Embolization followed by surgical resection of the AVM resulted in the prompt relief of heart failure.

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

    Bengt Källén


    Full Text Available 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.



    Objective To investigate the corrective results of congenital scoliosis with type Ⅱ split spinal cord malformation. Methods By reviewing the medical records and roentgenograms of congenital scoliosis patients with type Ⅱ split spinal cord malformation that underwent corrective surgery, septum location and length, curve type, coronal and sagittal Cobb's angles, apical vertebral rotation and translation, and trunk shift were measured and analyzed. Results A total of 23 congenital scoliosis patients with type Ⅱ split spinal cord malformation were studied, 6 cases were due to failure of segmentation, 8 cases due to failure of formation, and the remaining 9 cases due to mixed defects. The fibrous septums were located in the thoracic spine in 8 patients, lumbar spine in 4 patients, thoracic and lumbar spine in 10 patients, and from cervical to lumbar spine in 1 patient. The septum extended an average of 4. 9 segments. Corrective surgeries included anterior correction with instrumentation in 2 patients, posterior correction with instrumentation in 11 patients, anterior release and posterior correction with instrumentation in 6 patients, anterior and posterior resection of the hemivertebra and posterior correction with instrumentation in 4 patients. The pre- and postoperative coronal Cobb's angles, apical vertebral translations, apical vertebral rotations, trunk shifts were 61.9° and 32. 5° ( P < 0. 001 ), 48. 9 mm and 31.5 mm ( P <0. 001 ), 1.2 and 1.1, 12. 7 mm and 8.2 mm, respectively. The average correction rate of coronal Cobb's angle was 47. 5%.The sagittal balance was also well improved. The fibrous septums were all left in situ. There was no neurological complication. Conclusion For congenital scoliosis with type Ⅱ split spinal cord malformation, positive correction results with no neurological complication may be obtained without resection of the fibrous septum.

  11. Split cervical spinal cord malformation and vertebral dysgenesis.

    Andro, C; Pecquery, R; De Vries, P; Forlodou, P; Fenoll, B


    We report a case of vertebral malformation associated with diplomyelia believed to be a type II split cord malformation. Cervicothoracic level cases are exceptional. This article reports the case of an 11-year-old boy with no neurological symptoms who had not undergone surgery. The diagnosis was made during pregnancy by prenatal screening with ultrasound and MRI. Several embryological theories have been offered to provide an explanation for this syndrome. Close follow-up is mandatory. Surgery must only be considered if neurological deterioration occurs.

  12. Computed tomography of congenital brain malformations

    Sarwar, M.


    This book is illustrated showing each condition. This book is designed to correlate the pathology of CNS malformations with their CT scan appearance, mainly on the axial images. The author has drawn upon his personal experience and the information gleaned from the literature dealing with the description of the CT scan findings of these malformations. The emphasis is on simplicity of description. Since a large degree of morphological variation exists in each entity, numerous illustrations (wherever applicable) are shown to depict those variations. When appropriate, deficiency of the CT scan in the evaluation of these CNS malformations also is indicated. A description of CNS embryology is included as well.

  13. Anthelmintic induced congenital malformations in sheep embryos using netobimin.

    Navarro, M; Cristofol, C; Carretero, A; Arboix, M; Ruberte, J


    Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular malformations were observed for the first time. The abnormalities were investigated using radiological, dissection and vascular injection techniques, and associations among them were recorded. The anomalies are discussed in terms of embryological considerations.

  14. Congenital inner ear malformations without sensorineural hearing loss in children.

    Ozeki, Michio; Kato, Zenichiro; Sasai, Hideo; Kubota, Kazuo; Funato, Michinori; Orii, Kenji; Kaneko, Hideo; Fukao, Toshiyuki; Kondo, Naomi


    Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months. Clinical and neuro-otological examinations showed peripheral involvement of the vestibular system, while audiological investigation was normal. High-resolution magnetic resonance imaging, with three-dimensional reconstruction, showed dysplasia of the bilateral lateral semicircular canals (LSCCs). Isolated vestibular malformation might not be as rare as previously thought, and should be examined by imaging of the temporal bone.

  15. Congenital malformations of the spinal cord without early symptoms.

    Moffie, D; Stefanko, S Z; Makkink, B


    Description of 11 patients with congenital malformations of the spinal cord. Six of them were males, five females and the age varied from 7 to 70 years. Most of these cases produced clinical neurological signs indicating spinal cord disease in later life during an intercurrent disease. It was thought that changes in the bloodvessels and/or perfusion of the area of the spinal cord malformation was the ultimate cause of the neurological symptoms. An exact explanation of the origin of these developmental disturbances of the spinal cord remains unknown. Different hypotheses proposed in the literature, concerning these malformations, are not satisfactory.

  16. Gross congenital malformation at birth in a government hospital

    Sandeep Sachdeva


    Full Text Available 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.




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

  18. Genetic causes of congenital brain malformations in epilepsy patients

    Møller, Rikke Steensbjerre


    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....

  19. Radiographic assessment of congenital malformations of the upper extremity

    Winfeld, Matthew J. [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, Musculoskeletal Division, Penn Medicine University City, Philadelphia, PA (United States); Otero, Hansel [Children' s National Medical Center, Department of Radiology, Washington, DC (United States)


    Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

  20. Histopathological study of congenital aortic valve malformations in 32 children

    HUANG Ping; WANG Hongwei; LI Yanping; CHENG Peixuan; LIU Qingjun; ZHANG Zhenlu; LIU Jianying


    The histopathological characteristics of congenital aortic valve malformations in children were investigated.All the native surgically excised aortic valves from 32 pediatric patients suffering from symptomatic aortic valve dysfunction due to congenital aortic valve malformations between January 2003 and December 2005 were studied macroscopically and microscopically.The patients' medical records were reviewed and the clinical information was extracted.The diagnosis was made by the clinical presentation,preoperative echocardiography,intraoperative examination,and postoperative histopathological study,excluding rheumatic ot degenerative aortic valve diseases,infective endocarditis and primary connective tissue disorders,e.g.Marfan syndrome.Among 32 children with congenital aortic valve malformations,the age was ranged from six to 18 years,with a mean of 14.9 years,and there were 27 boys and five girls (male:female = 5.4:1).There were five cases of aortic stenosis (AS,15.62%),25 cases of aortic insufficiency (AI,78.13 %)and two cases of AS-AI (6.25%),without other valve diseases.Twenty cases still had other congenital heart diseases:ventricular septal defect (19 cases),patent ductus arteriosus (two cases),double-chambered right ventricle (one case),aneurysm of the right anterior aortic sinus of valsalva (three cases).Histopathological examination indicated that the cusps became thickening with unequal size,irregular shape (coiling and prolapse edge),enhanced hardness,and partly calcification.Microscopic investigation revealed the unsharp structure of valve tissue,fibrosis,myxomatous,reduced collagen fiber,rupture of elastic fibers,different degrees of infiltration of inflammatory cells,secondary calcareous and lipid deposit,and secondary fibrosis.Congenital aortic valve malformations in children involve males more than females,mostly associated with other congenital heart diseases.Aortic insufficiency is more common in children with congenital aortic valve

  1. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    Boes Aaron D


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

  2. Electroencephalography in congenital malformations of the central nervous system

    Patrícia Campos


    Full Text Available 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 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.

  3. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

    van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P


    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight


    Rubi Saikia


    Full Text Available BACKGROUND Congenital external ear malformations like Microtia, Anotia, Preauricular skin tags, etc. cause severe psychological problems in children. If accompanied with atresia of the external auditory canal and the middle ear; hearing loss, developmental delays are also associated with such malformations. AIM The aim of the present study is to evaluate the commonly occurring congenital external ear defects in this part of India. MATERIALS AND METHODS This study was undertaken in patients attending the Plastic Surgery OPD at Assam Medical College Hospital and Smile Train Centre at Srishti Hospitals and Research Centre at Dibrugarh, Assam, from July 2013 to July 2016. We did an analysis of 25 patients with visibly noticeable external ear deformities and recorded the findings as per proforma and took photographs. RESULTS Among the 25 cases, 9 (36% were males and 16 (64% were females. The most common congenital anomaly that we found was microtia 7 (28%. Of these, 1 (4% was isolated microtia and 6 (24% were associated with hemifacial microsomia. The second common finding was preauricular skin tags 5 (20%. 3 of the microtia cases also presented with external auditory canal atresia and hearing loss. CONCLUSION Congenital anomalies of the external ear can seriously change a child’s personality. Proper diagnosis and treatment of such cases will definitely reduce the possible psychological, physical and financial problems of the patient and family as most of them are surgically correctable.

  5. Parental perceptions of congenital cardiovascular malformations in their children.

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A


    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute.

  6. Congenital inner ear malformations without sensorineural hearing loss.

    Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru


    It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

  7. Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.

    Koichiro Abe

    Full Text Available Congenital vertebral malformations caused by embryonic segmentation defects are relatively common in humans and domestic animals. Although reverse genetics approaches in mice have provided information on the molecular mechanisms of embryonic somite segmentation, hypothesis-driven approaches cannot adequately reflect human dysmorphology within the population. In a N-ethyl-N-nitrosourea (ENU mutagenesis project in Kyoto, the Oune mutant rat strain was isolated due to a short and kinked caudal vertebra phenotype. Skeletal staining of heterozygous rats showed partial loss of the cervical vertebrae as well as hemivertebrae and fused vertebral blocks in lumbar and sacral vertebrae. In homozygous embryos, severe displacement of the whole vertebrae was observed. The Oune locus was genetically mapped to rat chromosome 1 using 202 backcross animals and 50 genome-wide microsatellite markers. Subsequently, a miss-sense mutation in the Tbx6 gene was identified in the critical region. Although the mutation is located within the T-box domain near a predicted dimmer-interface, in vitro experiments revealed that the Tbx6 variant retains normal DNA binding ability and translational efficiency. However, the variant has decreased transcriptional activation potential in response to Notch-mediated signaling. Recently, it was reported that a dominant type of familial spondylocostal dysostosis is caused by a stoploss mutation in TBX6. Thus, we propose that partial dysfunction of Tbx6 leads to similar congenital vertebral malformations in both humans and rats. The Oune strain could be a unique animal model for dominant spondylocostal dysostosis and is useful for molecular dissection of the pathology of congenital vertebral malformations in humans.

  8. Use of tramadol in early pregnancy and congenital malformation risk.

    Källén, Bengt; Reis, Margareta


    Only few studies exist regarding the risk of a teratogenic effect of tramadol when used in early pregnancy. Using the Swedish Medical Birth Register, women (deliveries in 1997-2013) who had reported the use of tramadol in early pregnancy were identified. Maternal characteristics and concomitant drug use were analyzed. Among 1,682,846 women (1,797,678 infants), 1751 (1776 infants) had used tramadol, 96 of the infants had a congenital malformation and 70 of them were relatively severe. The adjusted odds ratio for a relatively severe malformation was 1.33 (95% CI 1.05-1.70). The odds ratios for cardiovascular defects (1.56, 95% CI 1.04-2.29) and for pes equinovarus (3.63, 95% CI 1.61-6.89) were significantly increased. The study suggests a teratogenic effect of tramadol but the risk increase is moderate.

  9. Congenital abnormalities of the vertebral column in ferrets.

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


    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 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.

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

    Atabey, Cem; Eroğlu, Ahmet; Topuz, Ali Kivanc; Velioğlu, Murat; Demircan, Mehmet Nusret


    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.

  11. [Ultrasonographic diagnosis of polyhydramnios and its association with congenital malformations].

    Romero Gutierrez, G; Fuentes Paramo, H; Membrila Alfaro, E; Vargas Huerta, M


    We carried out a prospective study at the Hospital de Gineco-Obstetricia del Instituto Mexicano del Seguro Social, in León, Guanajuato in order to evaluate the association between polyhydramnios and fetal congenital anomalies. 200 women were included, 100 with polyhydramnios and 100 with normal amniotic fluid (control group). The diagnosis of polyhydramnios was made with ultrasound scanning using maximum vertical pocket technique and amniotic fluid index. The patients with polyhydramnios had an average maximum vertical pocket of 9.3 centimeters and amniotic fluid index of 27.0 centimeters. In patients with polyhydramnios 24 cases of congenital malformations were found, and none in patients with normal amniotic fluid (P < 0.01). The most common fetal anomalies were: esophageal atresia (25%), anencephaly (21%) and ductus arteriosus (21%). There were six perinatal deaths in the group of patients with polyhydramnios, five of them had congenital abnormalities, on the other hand in the control group there were no perinatal deaths (P < 0.01). Owing to the signifficative association between polyhydramnios and congenital anomalies, we suggest to reinforce the ultrasound evaluation in order to detect these abnormalities and to offer an early treatment and therefore a better prognosis to the fetus.

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

    Moréh Zsuzsanna


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




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

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

    Fan, Chengming; Huang, Can; Liu, Jijia; Yang, Jinfu


    A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade. PMID:26294998

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

    Chengming Fan


    Full Text Available A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

  16. Identification of complex vertebral malformation carriers in Chinese Holstein.

    Chu, Qin; Sun, Dongxiao; Yu, Ying; Zhang, Yi; Zhang, Yuan


    Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the nucleotide position 559 in bovine solute carrier family 35, member 3 gene (SLC35A3), which changes the amino acid sequence of uridine 5'-diphosphate-N-acetylglucosamine transporter protein from a valine to a phenylalanine in position 180. The elite U.S. Holstein sire Penstate Ivanhoe Star was identified as the common ancestor of the current CVM carriers. Because his offspring, mainly those of Carlin-M Ivanhoe Bell, were used in many countries, CVM has potentially spread into China. In the present study, using the polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) technique, 10 CVM carriers were found among 68 at-risk Chinese Holstein bulls, and 282 carriers were found among 602 at-risk cows. The results of this study indicate that the CVM gene exists in the Chinese Holstein population.

  17. Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.

    Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat


    Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

  18. Type II congenital cystic pulmonary malformation in an esophageal lung.

    Martínez-Martínez, Blanca E; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda


    A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.

  19. Mutations of connexin43 in fetuses with congenital heart malformations

    CHEN Ping; XIE Li-jian; HUANG Guo-ying; ZHAO Xiao-qing; CHANG Cai


    Background Gap junction channels formed by connexin43 (Cx43) protein are important in cardiac morphogenesis, and Cx43 gene is thought to be associated with congenital heart malformation (CHM). This study was undertaken to detect the mutations of Cx43 in fetuses with CHM.Methods Cx43 extron DNA was amplified by PCR from 16 fetuses with a variety of CHM. The PCR products were analyzed by SSCP and DNA sequencing. Thirty children who had no CHM were selected as controls. Results Eight homozygous mutations of Cx43 were observed in a fetus with double outlet right ventricule (DORV), five of the 8 mutations were missense mutations including Arg239Trp, Ser251Thr, Ala253Pro, Pro283Leu and Thr290Asn, and the remaining 3 were silent polymorphisms including Gly252Gly, Pro256Pro and Thr275Thr. No mutations were found in other fetuses and the control group.Conclusions Mutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.

  20. Short term and long term health related quality of life after congenital anorectal malformations and congenital diaphragmatic hernia

    M.J. Poley (Marten); E.A. Stolk (Elly); D. Tibboel (Dick); J.C. Molenaar; J.J. van Busschbach (Jan)


    textabstractAIMS: To examine short term and long term health related quality of life (HRQoL) of survivors of congenital anorectal malformations (ARM) and congenital diaphragmatic hernia (CDH), and to compare these patients' HRQoL with that of the general population. METHODS: HRQoL

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

    Kongstad, Thomas; Buchvald, Frederik; Brenøe, Jørn;


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

  2. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

    Garne, E; Loane, M; de Vigan, C; Scarano, G; de Walle, H; Gillerot, Y; Stoll, C; Addor, MC; Stone, D; Gener, B; Feijoo, M; Mosquera-Tenreiro, C; Gatt, M; Queisser-Luft, A; Baena, N; Dolk, H


    Objective To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Design

  3. Congenital malformations and maternal consumption of benzodiazepines: a case-control study.

    Laegreid, L; Olegård, R; Conradi, N; Hagberg, G; Wahlström, J; Abrahamsson, L


    This study assessed potential teratogenic properties of benzodiazepine (BZD) intake during early pregnancy. Four neonatal diagnoses of congenital malformations (embryopathy and fetopathy, unspecified; unspecified congenital malformations of the nervous system; cleft palate and cleft lip; congenital malformations of the urinary tract) were selected. The authors' previous clinical experience had shown these diagnoses to be characteristic of infants born to mothers with excessive intake of BZD in early pregnancy. The selected diagnoses were present in 25 of 10,646 liveborn infants (2.3 per 1000) delivered by mothers living in the city of Gothenburg in 1985 and 1986. In 18 of these cases, it was possible to analyse maternal plasma, and eight samples (44 per cent) were found to be BZD-positive. Of 60 controls, two maternal blood samples (3 per cent) were positive for BZD. The difference is highly significant and suggests an association between these congenital malformations and BZD consumed during early gestation.

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

    Fedder, Jens; Loft, A; Parner, Erik Thorlund;


    Does neonatal outcome including congenital malformations in children born after ICSI with epididymal and testicular sperm [testicular sperm extraction (TESE)/percutaneous epididymal sperm aspiration (PESA)/testicular sperm aspiration (TESA) (TPT)] differ from neonatal outcome in children born after...

  5. [Prenatal exposure to birth control pills: risk of fetal death and congenital malformations].

    Jellesen, Rikke; Andersen, Anne-Marie Nybo


    About 1% of pregnant women uses oral contraceptives during the first part of their pregnancy and thereby exposes their offspring to artificial estrogens. Artificial estrogens, such as oral contraceptives, accidentally used during pregnancy may have a negative impact on the fetus. This article reviews the literature on prenatal exposure to oral contraceptives and the risk of congenital malformations and fetal death. The conclusion is that prenatal exposure to oral contraceptives may be associated with a slightly elevated risk of certain specific congenital malformations.

  6. Diagnosis of Congenital Heart Malformations – Possibilities for the Employment of Telepathology

    Cornelia Tennstedt; Kathrin Sunkel-Wehrstedt; Martin Vogel; Peter Hufnagl


    Goal: In a study of 10 autopsy cases with congenital cardiac malformations we investigated whether obtaining a second opinion by means of telepathology could satisfy quality standards for the diagnosis of cardiac malformations and what the advantages and disadvantages of such a procedure might be. Material: The investigatory samples were 10 formalin‐fixed hearts with complex malformations from 9 fetuses and one newborn on which autopsies had been performed at the Pathological Institute of the...

  7. Type II Congenital Pulmonary Airway Malformation in an Esophageal Lung

    Blanca Estela Martínez-Martínez


    Full Text Available A seven-month-old girl, born prematurely (birth weight 1000 g from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.

  8. Cancer risk in siblings of children with congenital malformations

    Sun, Yuelian; Wu, Chunsen; Arah, Onyebuchi A


    with a CM using a Cox proportional hazards regression model. To control for confounding related to change of family structure, we estimated cancer risks for children from core families and children from broken families separately. Children were followed from birth up to 30 years of age (median follow-up 13...... but had a full or half sibling with a congenital malformation (CM) diagnosed in the first year of life; this constituted the exposed group, while children whose siblings had no such condition constituted a reference group. We estimated cancer risks for children who had a full sibling or a half sibling...... a full sibling with a CM in the nervous system (HR=2.61, 95%CI:1.60-4.27) or in the eye, ear, face, or neck (HR=2.47, 95%CI: 1.46-4.18). Children who had a half sibling with a CM seemed to have a higher cancer risk in early adulthood (HR=1.87, 95%CI: 0.98-3.56). CONCLUSIONS: Children who had a full...

  9. Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

    Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado


    Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

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

    Istek, Seref


    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.

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

    Saiyad SS


    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

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

    Tougaard, Ninna Hahn; Bonde, Jens Peter; Hougaard, Karin Sørig


    , malformations, and parental occupation. The cohort included >1,300,000 children born to occupationally active women in Denmark 1980-2010. Cases were hospital-diagnosed with malformations within the first year of life. Odds ratios (OR) with 95% confidence intervals (95% CI) were estimated using multiple logistic...... diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female......OBJECTIVES: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during...

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

    Solem, Espen Victor Jimenez; Andersen, Jon Thor Trærup; Petersen, Morten;


    . PARTICIPANTS: Pregnant women in Denmark between 1997 and 2009 and their offspring. PRIMARY OUTCOME MEASURES: For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic regression models for women exposed to an SSRI during the first trimester and for women with paused...... exposure during pregnancy. RESULTS: The authors identified 848¿786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout...... the first trimester, adjusted OR 2.01 (95% CI 1.60 to 2.53), and for pregnancies with paused SSRI treatment during pregnancy, adjusted OR 1.85 (95% CI 1.07 to 3.20), p value for difference: 0.94. The authors found similar increased risks of specific congenital malformations of the heart for the individual...

  14. Large congenital cystic asdenomatous malformation of the lung in a newborn

    İlyas Yolbaş


    Full Text Available Congenital cystic adenomatous malformation (CCAM oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatment

  15. Bisphenol A induces otolith malformations during vertebrate embryogenesis

    Demeneix Barbara


    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.

  16. Detection of congenital uterine malformation by using transvaginal three-dimensional ultrasound.

    Yu, Li-Li; Zhang, Xuan; Zhang, Ting; Chen, Han-Rong; Wang, Ze-Hua


    This study assessed the clinical application of transvaginal three-dimensional ultrasound (3D TVUS) in the diagnosis of congenital uterine malformation. A retrospective study was performed on 62 patients with congenital uterine malformation confirmed hysteroscopically and/or laparoscopically. The patients were subjected to transvaginal two-dimensional ultrasound (2D TVUS) and 3D TVUS. The accuracy rate was compared between the two methods. The accuracy rate of 3D TVUS was (98.38%, 61/62), higher than that of 2D TVUS (80.65%, 50/62). 3D TVUS coronal plane imaging could demonstrate the internal shape of the endometrial cavity and the external contour of the uterine fundus. It allowed accurate measurement on the coronary plane, and could three-dimensionally show the image of cervical tube, thereby providing information for the diagnosis of some complex uterine malformation. 3D TVUS imaging can obtain comprehensive information of the uterus malformation, and it is superior to 2D TVUS for the diagnosis of congenital uterine malformations, especially complex uterine anomaly.

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

    Ennis, Zandra Nymand; Damkier, Per


    To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first-trimester expos......To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first......-trimester exposure and pregnancy outcome with respect to congenital malformations. Cumulated data for olanzapine were 1090 first-trimester-exposed pregnancies with 38 malformations resulting in a malformation rate of 3.5%. The corresponding numbers for quetiapine, risperidone and aripiprazole were 443/16 (3.6%), 432....../22 (5.1%) and 100/5 (5.0%), respectively. Relative risk estimates and 95% confidence intervals were 1.0 (0.7-1.4) (olanzapine), 1.0 (0.6-1.7) (quetiapine), 1.5 (0.9-2.2) (risperidone) and 1.4 (0.5-3.1) (aripiprazole). First-trimester exposure to olanzapine is not associated with an increased risk...

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

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


    Objective To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy. Design A review of all published cohort studies to identify key indications and a population based case-control study to test these indications. Setting Review of P

  19. Clinical and molecular characterisation of human syndromes with congenital patellar malformations

    Bongers, M.H.F.


    In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The el

  20. Prevalence and factors associated with congenital malformations in Tirana, Albania, during 2011-2013

    Çanaku, D.; Toçi, E.; Roshi, E.; Burazeri, G.


    AIM: Congenital Malformations (CMs) represent a challenge especially for developing countries. Data about CMs in Albania are rather scarce. In this context, our aim was to assess the prevalence and factors associated with CMs in Tirana, the capital of Albania. METHODS: Information on all CMs at birt

  1. Dyssynergic defecation may aggravate constipation : results of mostly pediatric cases with congenital anorectal malformation

    van Meegdenburg, Maxime M.; Heineman, Erik; Broens, Paul M. A.


    BACKGROUND: Most patients with congenital anorectal malformation suffer from mild chronic constipation. To date, it is unclear why a subgroup of patients develops a persistent form of constipation. Because dyssynergic defecation is a common cause of constipation in the general population, we hypothe

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

    Andersen, Jon Trærup; Petersen, Morten; Jimenez-Solem, Espen;


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

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

    Guddati, Achuta K; Marak, Creticus P


    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.

  4. Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome

    Schmidt D


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

  5. Antidepressant exposure during early pregnancy and congenital malformations

    Pedersen, Lars Henning

    are reassuring, however, an association with heart malformations has been suggested for e.g. paroxetine. A potential biological explanation will be reviewed. The potential teratogenic potential of antidepressants needs to be balanced against the obvious problems associated with under-treated maternal depression...

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

    Thomseth, Vilde; Cejvanovic, Vanja; Jimenez-Solem, Espen


    malformations (adjusted odds ratio = 1.06, 95% CI 0.91-1.22) or specific major malformations. The number of redeemed prescriptions decreased significantly during pregnancy as compared to before and after pregnancy (p ...PURPOSE: To investigate whether exposure to topical chloramphenicol in the first trimester of pregnancy is associated with congenital malformations. METHODS: The authors conducted a nationwide cohort study including all women giving live birth between 1997 and 2011 in Denmark. All women redeeming...... at least one prescription of chloramphenicol eye drops or eye ointment during the first 84 days of pregnancy were identified. Logistic regression was used to estimate the odds ratios of malformations among exposed women compared to non-exposed women. RESULTS: 966 372 births between 1997 and 2011 were...

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

    Rafael Fabiano Machado Rosa


    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

  8. Possible association between acetazolamide administration during pregnancy and multiple congenital malformations

    Al-Saleem AI


    Full Text Available Afnan I Al-Saleem,1 Asma M Al-Jobair21Dental Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; 2Department of Pediatric Dentistry and Orthodontics, College of Dentistry, King Saud University, Riyadh, Saudi ArabiaAbstract: Congenital malformations might occur because of environmental or genetic factors, and sometimes occur because of unknown causes. Acetazolamide is a carbonic anhydrase inhibitor that is used to treat idiopathic intracranial hypertension, glaucoma, and epilepsy. The use of acetazolamide has not been recommended for pregnant women because of reported teratogenic risks. Congenital malformations, such as ectrodactyly, syndactyly, cleft lip/palate, and retarded incisor teeth development, have been reported in experimental animals. However, tooth agenesis due to the use of acetazolamide has not been reported yet. Oligodontia is a severe type of tooth agenesis involving six or more congenitally missing teeth. The causes of oligodontia are attributed to environmental factors, such as irradiation, drugs, trauma, tumors, infection, genetic factors, or a combination. There is no credible evidence of undesirable effects of acetazolamide use in human pregnancy. However, we report a case of a 12-year-old Saudi boy who was exposed to maternal acetazolamide (1,000 mg/day for treatment of idiopathic intracranial hypertension before pregnancy, during the first trimester, and throughout the pregnancy. This treatment might have resulted in some congenital malformations, such as ectrodactyly, syndactyly, and oligodontia.Keywords: acetazolamide, oligodontia, ectrodactyly, syndactyly

  9. Congenital malformations in a fetus and a newborn according to the data of Perinatal Center of the Saratov region

    Chernenkov Yu.V.


    Full Text Available The aim: to study the frequency of birth defects in Perinatal Center of the Saratov region from 2014 till 2015, the possibility of prognosing, early diagnosis and optimization of programs for the prevention and correction of congenital malformations, the evaluation of treatment outcomes. Materials and Methods. The study included newborn babies and fetuses with birth defects for the period 2014-2015 according to data received from Perinatal Center. The data on ultrasound examination of pregnant women and about 149 fetuses with malformations in case of early terminated pregnancies were analyzed. Results. In 2014 Perinatal Center of the Saratov region found 77 newborns with congenital malformations, in 2015-72; 24 children (16.1% required early surgical intervention. The comprehensive assessment of the health status of women and their children, the assessment of placental blood flow and fetal development, the identification of chromosomal and genetic abnormalities were conducted. 5 children of 149 children with congenital malformations died at the stage of the maternity hospital where average mortality accounted for 3.3%. Congenital malformations of central nervous system and sense organs accounted for 13.4%, malformations of the face and neck — 5.4%, malformations of the cardiovascular system — 28.8%, malformations of the respiratory system — 2.7%, malformations of the gastrointestinal tract — 4%, malformations of the musculoskeletal system — 9.4%, malformations of the urinary system — 27.5%, genital malformations — 4%, defects of the skin and its appendages — 1.3%, other malformations — 2.7%. Multiple malformations accounted for 4.7%. During 2014-2015 due to congenital malformations 311 births (4.4% were interrupted, the main cause was determined as chromosomal abnormalities. Training, diagnosis, management of pregnant women and their delivery is carried out in Perinatal Center of the Saratov region in accordance with the

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

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


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

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

    Overholt, A C; Atri, D


    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.

  12. 3D virtual rendering in thoracoscopic treatment of congenital malformation of the lung

    Destro F.


    Full Text Available Introduction: Congenital malformations of the lung (CML are rare but potentially dangerous congenital malformations. Their identification is important in order to define the most appropriate management. Materials and methods: We retrospectively reviewed data from 37 patients affected by CML treated in our Pediatric Surgery Unit in the last four years with minimally invasive surgery (MIS. Results: Prenatal diagnosis was possible in 26/37 patients. Surgery was performed in the first month of life in 3 symptomatic patients and between 6 and 12 months in the others. All patients underwent radiological evaluation prior to thoracoscopic surgery. Images collected were reconstructed using the VR render software. Discussion and conclusions: Volume rendering gives high anatomical resolution and it can be useful to guide the surgical procedure. Thoracoscopy should be the technique of choice because it is safe, effective and feasible. Furthermore it has the benefit of a minimal access technique and it can be easily performed in children.

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

    Collins, Anne M


    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.

  14. The incidence of congenital malformations and variations in Göttingen minipigs.

    Ellemann-Laursen, S; Marsden, E; Peter, B; Downes, N; Coulby, D; Grossi, A B


    Knowledge of the incidence of spontaneous congenital abnormalities is critical for the accurate interpretation of findings in teratogenicity studies in any species. In this paper, results of the examination of 1739 neonatal Göttingen Minipigs are presented. Over the 2-year period under consideration, the incidence of external and visceral malformations was less than 0.2 and 0.1%, respectively. The most common external malformations were syndactyly, limb hyperflexion, domed head and scoliosis. The most common internal malformations were undescended testes, ventricular septal defect, diaphragmatic hernia and atrial septal defects. Pentadactyly and variation in the aortic arch's bifurcation (absent truncus bicaroticus) were the most common variations. These data will help support the use of the Göttingen Minipig as a non-rodent species in embryofetal development studies where concerns persist about the availability of background data.

  15. Congenital Malformations of the Inner Ear: Case Series and Review of the Literature.

    Piromchai, Patorn; Kasemsiri, Pornthep; Thanawirattananit, Panida; Yimtae, Kwanchanok


    Patients with craniofacial anomalies often present to doctors due to their noticeable disfigurement and are routinely assessed by otolaryngologists for hearing evaluation. However, small percentage of craniofacial anomaly patients may present with delayed speech though they may not have initial obvious external deformation. The objective of case series is to identify the congenital inner ear malformation. The series of clinical presentation, physical examination, investigations, treatments and follow-up results were demonstrated followed by the discussion.

  16. Antiepileptic drugs prescribed in pregnancy and prevalence of major congenital malformations: comparative prevalence studies

    Petersen, Irene; Collings, Shuk-Li; McCrea, Rachel L; Nazareth, Irwin; Osborn, David P; Cowen, Phil J; Sammon, Cormac J


    Objective The aim of this study was to examine the prevalence of major congenital malformations associated with antiepileptic drug (AED) treatment in pregnancy. Patients and methods Using data from The Health Improvement Network, we identified women who have given live birth and their offspring. Four subgroups were selected based on the AED treatment in early pregnancy, valproate, carbamazepine, lamotrigine and women not receiving AED treatment. We compared the prevalence of major congenital malformations within children of these four groups and estimated prevalence ratios (PRs) using Poisson regression adjusted for maternal age, sex of child, quintiles of Townsend deprivation score and indication for treatment. Results In total, 240,071 women were included in the study. A total of 229 women were prescribed valproate in pregnancy, 357 were prescribed lamotrigine and 334 were prescribed carbamazepine and 239,151 women were not prescribed AEDs. Fifteen out of 229 (6.6%) women prescribed valproate gave birth to a child with a major congenital malformation. The figures for lamotrigine, carbamazepine and women not prescribed AEDs were 2.7%, 3.3% and 2.2%, respectively. The prevalence of major congenital malformation was similar for women prescribed lamotrigine or carbamazepine compared to women with no AED treatment in pregnancy. For women prescribed valproate in polytherapy, the prevalence was fourfold higher. After adjustments, the effect of estimates attenuated, but the prevalence remained two- to threefold higher in women prescribed valproate. Conclusion The results of our study suggest that lamotrigine and carbamazepine are safer treatment options than valproate in pregnancy and should be considered as alternative treatment options for women of childbearing potential and in pregnancy. PMID:28243149


    Sumit Gupta


    Full Text Available Objectives: To study the overall and individual incidence of clinically detectable congenital malformations in newborns delivered at a tertiary hospital and to find out the associated maternal factors. Methodology: The present study is a prospective study of all the newborns delivered at Obstetrics and Gynecology Department, SSG Hospital, Baroda for a period of one year in which total 4058 consecutively born babies were examined for all visible structural anomalies and associated maternal factors were studied. Results: Incidence of malformed babies was 1.53% (62 malformations out of 4058 babies of which the anomalies of CNS were the most frequent .In associated maternal factors, anaemia and diabetes were found to be relevant. Conclusion: The incidence of congenital anomalies of CNS was highest amongst all types of congenital anomalies (neural tube defects being the commonest. More stress should be laid on prevention by regular antenatal care and avoidance of known teratogens and probable teratogenic agents. [National J of Med Res 2012; 2(1.000: 19-21

  18. [Severe mental illness in mothers and congenital malformations in newborns: a meta-analysis].

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


    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 malformations. 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.

  19. Congenital malformations and genetic diseases in comic books.

    Mégarbané, A; Adib, S M


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

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

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


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

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

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


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

  2. Diagnosis of Congenital Heart Malformations – Possibilities for the Employment of Telepathology

    Cornelia Tennstedt


    Full Text Available Goal: In a study of 10 autopsy cases with congenital cardiac malformations we investigated whether obtaining a second opinion by means of telepathology could satisfy quality standards for the diagnosis of cardiac malformations and what the advantages and disadvantages of such a procedure might be. Material: The investigatory samples were 10 formalin‐fixed hearts with complex malformations from 9 fetuses and one newborn on which autopsies had been performed at the Pathological Institute of the Charité Hospital. The requests for a second opinion, which included text and image data, were sent in the form of Microsoft PowerPoint presentations to 5 experts in 4 countries. Per case the number of images that were sent was between 3 and 7. The size of the files was between 439 and 942 kb. The time required for preparation of the cases for sending them to the specialists was between 1 and 2 hours: this encompassed the time for putting the notation on the images, compressing them, creating a file that included both the images and the clinical data and then sending the case file. Results: All 10 cardiac malformations were correctly identified. In 8 of the 10 cases at least one expert had questions. After these questions had been answered and further images had been sent final correct diagnoses were made in all cases. All experts said that the quality of the images was very good. Use of a standardized findings questionnaire, which also included the marking of anatomic structures and of pathological findings in the images, proved useful. Standardized findings forms facilitate orientation during interpretation of the cases and should be used generally to avoid misunderstandings in telepathological communication. Conclusions: In general it is possible to obtain an effective and reliable diagnosis of congenital heart malformations by means of telepathology. It is far quicker to get a second opinion by this means than by conventional means.

  3. The role of the pediatrician in preventing congenital malformations.

    Brent, Robert L


    • The development of new knowledge and new diagnostic techniques and technology as well as the sophistication of epidemiology studies and maturation of the fields of clinical genetics and clinical teratology have revolutionized the field of reproductive and developmental biology.• Advances have enabled physicians and scientists to determine the causes of developmental abnormalities and, therefore, discover methods of prevention. The process of evaluation is based on the knowledge base developed over the past 50 years.• Although genetic abnormalities are responsible for a significant proportion of reproductive and developmental deleterious effects, a larger proportion of these effects are due to unknown causes.• Environmental causes are less frequent, although many of the environmental effects as well as many of the genetic effects can be prevented through genetic counseling and preconceptual planning. Effective treatment and amelioration of developmental effects also have improved.• More than 50 environmental drugs, chemicals, maternal diseases, infections, nutritional abnormalities, and physical agents can affect reproduction deleteriously and result in CMs.Theoretically, all these causes are preventable.• Throughout the developing world, the addition of folic acid and iodine could prevent tens of thousands of birth defects and developmental abnormalities.• In the United States, the opportunity for prevention can be introduced at the population level and by addressing individual patients’ clinical problems.• If a mother of a malformed infant had some type of exposure during pregnancy, such as a diagnostic radiologic examination or medication, the consulting physician should not support or suggest the possibility of a causal relationship before performing a complete evaluation. If a pregnant woman who has not yet delivered had some type of exposure during pregnancy, the consulting physician should not support or suggest the possibility that the

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

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


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

  5. Nonsurgical treatment of congenital vascular malformations of the trunk and limb by transcatheter embolization

    Park, Jae Hyung; Choi, Dae Seob; Han, Joon Koo; Chung, Jin Wook; Han, Moon Hee; Goo, Jin Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)


    We evaluated the effectiveness of embolization in the management of congenital vascular malformations(CVMs). A retrospective analysis was performed in 10 patients who underwent embolotherapy for their soft tissue CVMs(eight arteriovenous malformations, one hemangioma, one venous malformation) involving the extremity or back. In nine patients, intraarterial embolization was performed with multiple embolic agents including Gelfoam, Ivalon, IBCA, ethanol mixed with Lipiodol, and micro-coils. In one patient with venous malformation, direct puncture and embolization of the lesion were performed with absolute ethanol mixed with Lipiodol. In four patients, who subsequently underwent surgery, preoperative embolization decreased operative morbidity and facilitated a thorough extirpation. Five of six patients with inoperable CVMs experienced dramatic reduction of symptoms by single or repeated embolization, with a mean follow-up period of four months. We believe that preoperative embolization may decrease operative morbidity and facilitate a thorough extirpation in the patients with extensive but resectable CVMs and repeated embolizations are effective for symptom control in the patients with inoperable CVMs.

  6. Nasoethmoidal meningocele in a child presenting bilateral congenital cystic adenomatoid malformation

    da Rosa, Ernani B; Silveira, Daniélle B; Tsugami, Laís G


    BACKGROUND: Nasoethmoidal meningocele is considered an uncommon type of cephalocele, and congenital cystic adenomatoid malformation (CCAM) is a rare lung disorder characterized by overgrowth of the terminal bronchioles. CASE: We report the unusual association between a nasoethmoidal meningocele......, entirely contained into the SPATA5 gene. However, it does not seem to be associated to the clinical findings of the patient. CONCLUSION: To our knowledge, there is only one case reported in the literature showing the same association between a nasoethmoidal meningocele and CCAM. Thus, the malformations...... observed in our patient may be related to the gestational exposures. Also, we cannot rule out that the patient may present the same condition characterized by a cephalocele and CCAM described by some authors, or even an undescribed entity, because some hallmark features, such as laryngeal atresia and limb...

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

    Kumar Basant


    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.

  8. Antiepileptic drugs prescribed in pregnancy and prevalence of major congenital malformations: comparative prevalence studies

    Petersen I


    Full Text Available Irene Petersen,1,2 Shuk-Li Collings,1,3 Rachel L McCrea,1 Irwin Nazareth,1 David P Osborn,4 Phil J Cowen,5 Cormac J Sammon1 1Department of Primary Care and Population Health, University College London, London, UK; 2Department of Clinical Epidemiology, Aarhus University, Aarhus N, Denmark; 3OXON Epidemiology, London, UK; 4Division of Psychiatry, University College London, London, UK; 5University Department of Psychiatry, Warneford Hospital, Oxford, UK Objective: The aim of this study was to examine the prevalence of major congenital malformations associated with antiepileptic drug (AED treatment in pregnancy.Patients and methods: Using data from The Health Improvement Network, we identified women who have given live birth and their offspring. Four subgroups were selected based on the AED treatment in early pregnancy, valproate, carbamazepine, lamotrigine and women not receiving AED treatment. We compared the prevalence of major congenital malformations within children of these four groups and estimated prevalence ratios (PRs using Poisson regression adjusted for maternal age, sex of child, quintiles of Townsend deprivation score and indication for treatment.Results: In total, 240,071 women were included in the study. A total of 229 women were prescribed valproate in pregnancy, 357 were prescribed lamotrigine and 334 were prescribed carbamazepine and 239,151 women were not prescribed AEDs. Fifteen out of 229 (6.6% women prescribed valproate gave birth to a child with a major congenital malformation. The figures for lamotrigine, carbamazepine and women not prescribed AEDs were 2.7%, 3.3% and 2.2%, respectively. The prevalence of major congenital malformation was similar for women prescribed lamotrigine or carbamazepine compared to women with no AED treatment in pregnancy. For women prescribed valproate in polytherapy, the prevalence was fourfold higher. After adjustments, the effect of estimates attenuated, but the prevalence remained two- to

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

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


    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.

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

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


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

  11. Nitrogen Dioxide pollution and hazardous household environment: what impacts more congenital malformations.

    Landau, D; Novack, L; Yitshak-Sade, M; Sarov, B; Kloog, I; Hershkovitz, R; Grotto, I; Karakis, I


    Nitrogen Dioxide (NO2) is a product of fuel combustion originating mainly from industry and transportation. Studies suggest an association between NO2 and congenital malformations (CM). We investigated an independent effect of NO2 on CM by adjusting to individual factors and household environment in 1024 Bedouin-Arab pregnant women in southern Israel. This population is characterised by high rates of CMs, frequent consanguineous marriages, paternal smoking, temporary housing and usage of open fire for heat cooking. Information on household risk factors was collected during an interview. Ambient measurements of 24-h average NO2 and meteorological conditions were obtained from 13 local monitors. Median value of daily NO2 measured in the area was 6.78ppb. CM was diagnosed in 8.0% (82) of offspring. Maternal NO2 exposure during the 1st trimester >8.6ppb was significantly associated with minor CM (RR=2.68, p=0.029). Major CM were independently associated with maternal juvenile diabetes (RR=9.97, p-value=0.002) and heating by open fire (RR=2.00, p-value=0.049), but not NO2 exposure. We found that NO2 emissions had an independent impact only on minor malformations, whereas major malformations depended mostly on the household environment. Antepartum deaths were associated by maternal morbidity.

  12. Congenital inner ear malformation: three dimensional volume rendering image using MR CISS sequence

    Song, Jong Woon; Lee, In Sook; Kim, Hak Jin; Goh, Eui Kyung; Kim, Lee Suk [College of Medicine, Pusan National Univ., Pusan (Korea, Republic of)


    To evaluate three-dimensional volume-rendering of congenital inner-ear malformations using the MR CISS(Constructive Interference in Steady State) sequence. MR CISS images of 30 inner ears of 15 patients (M:F=10.5; mean age, 6.5years) in whom inner-ear malformation was suspected were obtained using a superconducting Magnetom Vision System (Simens, Erlangen, Germany), with TR/TE/FA parameters of 12.25 ms/5.9 ms/70.deg.. The images obtained were processed by means of the volume rendering technique at an advanced workstation (Voxtol 3.0.0; GE Systems, advanced workstation, volume analysis). The cochlea and three semicircular canals were morphologically evaluated. Volume-rendered images of 25 inner ears of 13 patients demonstrated cochlear anomalies in the form of incomplete partition (n=18), hypoplasia (n=2), and severe hypoplasia (n=5). For the superior semicircular canal, findings were normal in 15 ears, though common crus aplasia (n=6), hypoplasia (n=4), aplasia (n=3), and a short and broad shape (n=2) were also observed. The posterior semicircular canal of 13 ears was normal, but common crus aplasia (n=6), a short and broad shape (n=5), aplasia (n=4), hypoplasia (n=3) were also identified. Twelve lateral semicircular canals, were normal, but other images depicted a short and broad shape (n=7), a dilated crus (n=5), a broad shape (n=4), and aplasia (n=2). In 14 patients the anomalies were bilateral, and in seven, the same anomalies affected both ears. Three-dimensional volume rendering images of the inner ear depicted various morphological abnormalities of the cochlea and semicircular canals. At that locations, anomalies were more complicated and varied than in the cochlea. Three-dimensional volume rendering imaging using the MR CISS technique provides anatomical information regarding the membranous labyrinth, and we consider this useful in the evaluation of congenital inner ear malformations.

  13. Congenital malformations in experimental diabetic pregnancy: aetiology and antioxidative treatment. Minireview based on a doctoral thesis.

    Simán, M


    Diabetes mellitus in pregnancy causes congenital malformations in the offspring. The aim of this work was to characterize biochemical and morphologic anomalies in the conceptus of an animal model of diabetic pregnancy. In addition, a preventive treatment against diabetes-induced dysmorphogenesis was developed. Congenital cataract was often found in the offspring of diabetic rats. The fetal lenses had increased water accumulation, sorbitol concentration and aldose reductase activity compared to control lenses. The results suggest that the cataracts form via osmotic attraction of water due to sorbitol accumulation in the fetal lens. Another set of malformations, with possible neural crest cell origin, occurred frequently in offspring of diabetic rats. These included low set ears, micrognathia, hypoplasia of the thymus, thyroid and parathyroid glands, as well as anomalies of the heart and great vessels. Furthermore, diabetes caused intrauterine death and resorptions more frequently in the late part of gestation. When the pregnant diabetic rats were treated with the antioxidants butylated hydroxytoluene, vitamin E or vitamin C, the occurrence of gross malformations was reduced from approximately 25% to less than 8%, and late resorptions from 17% to 7%. This suggests that an abnormal handling of reactive oxygen species (ROS) is involved in diabetes-induced dysmorphogenesis in vivo. Indeed, an increased concentration of lipid peroxides, indicating damage caused by ROS, was found in fetuses of diabetes rats. In addition, embryos of diabetic rats had low concentrations of the antioxidant vitamin E compared to control embryos. These biochemical alterations were normalized by vitamin E treatment of the pregnant diabetic rats. The antioxidants are likely to have prevented ROS injury in the embryos of the diabetic rats, in particular in the neural crest cells, thereby normalizing embryonic development. These results provide a rationale for developing new anti

  14. Study of congenital malformation in tertiary care centre, Mumbai, Maharashtra, India

    Prasannajeet Kokate


    Full Text Available Background: Birth defects are important cause of neonatal morbidity and mortality. Congenital anamolies are defined as structural and functional abnormalities including metabolic disorders present at birth. There are several known factors that are associated such as maternal infection like TORCH, genetic factors, drugs, maternal age, Consanguinity. Screening in late first and second trimester is important tool to reduce the prevalence. Methods: A retrospective study was done. Data was collected and analyzed. Fetal outcome was assessed. Variables like maternal age, parity, consanguinity, abortions, sibling with malformation, nutrition, smoking ,alcoholism, family history of congenital anomalies, conceived after infertility treatment, maternal diabetes, infections, fever, drugs, history of intrauterine deaths were critically evaluated. Results: Out of total 5020 deliveries, 50 babies with congenital anomalies identified. Incidence being 0.9%, commonest congenital anomalies involving craniospinal system (44%. Second most common is musculoskeletal system (30%. Consanguinity is single most important factor which was found to increase the risk of congenital anomalies in our study. In 40% of the cases consanguinity was noted. Most common perinatal risk factors are preterm labor (22%, polyhydramnios (8% and breech (16%. The fetal outcome was 80% of the babies were compatible with life and 20% were non compatible. Conclusions: In the present study, most of the mothers who had anomalous fetuses had risk factors like consanguinity and previous history of abortions. Hence the need for focused screening in this high risk category. A level II targeted scan is done at 18-20 weeks and again at 24 weeks to exclude anomalies and reduce the prevalence. Once an anomaly is detected, various management options are to be discussed with the patients in consultation with neonatologist, pediatric surgeon and neurosurgeon when necessary. If parents are willing to continue


    Verzilina, I N; Chumosov, M I; Evdokimov, V I


    Results of the performed study showed that the use of mineral fertilizers for crops increases the risk of morbidity in neonates with congenital malformations (CM). P-elevated levels of relative environmental risk is established for: anomalies of the musculoskeletal system, multiple congenital malformations, the CM as a whole. Maximum environmental risk in the conditions of high load offertilizers on farmland is established for congenital abnormalities of the development of reproductive system in newborn infants (RR = 2,76).

  16. Lumbo-costo-vertebral syndrome with congenital lumbar hernia.

    Gupta, Lucky; Mala, Tariq Ahmed; Gupta, Rahul; Malla, Shahid Amin


    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.

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

    Lucky Gupta


    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.

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

    Bay Bjørn, Anne-Mette; Ehrenstein, Vera; Hundborg, Heidi Holmager


    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...

  19. Prosthetic fitting in a patient with a transtibial amputation due to a congenital vascular malformation of the right leg

    Simmelink, Elisabeth K.; Rommers, Gerardus M.; Gardeniers, Jean W. M.; Zijlstra, Henk


    Background: The problems of prescribing a prosthesis for a young girl with severe congenital vascular malformation deformity leading to a transtibial amputation. Case description and methods: Due to the high risk of recurrent bleeding and limitations regarding full weight bearing of the stump, a nor

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

    C.B. Santos


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

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

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


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

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

    S. W. Siswanti


    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.

  3. Surgical advances for congenital ear malformation%先天性小耳畸形手术治疗进展



    Congenital ear malformation is caused by developmental abnormalities of the first and second branchial arch. Congenital ear malformation is performance ear hypoplasia and smaller than normal size, often accompanied by external auditory canal atresia and middle ear deformities. Surgery is the main treatment for congenital microtia. This article mainly reviewed the progress on auricle reconstruction, auditory rehabilitation and other surgical treatment.%先天性小耳畸形是由第一鳃弓和第二鳃弓发育异常引起的,为耳郭发育不全且较正常者为小,常伴有外耳道闭锁、中耳畸形.手术治疗是小耳畸形治疗的最主要手段,本文就小耳畸形耳郭成形术、听力重建以及相关手术进展做一综述.

  4. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

    Tokita, Mari J; Braxton, Alicia A; Shao, Yunru; Lewis, Andrea M; Vincent, Marie; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Latypova, Xénia; Bézieau, Stéphane; Liu, Pengfei; Motter, Connie S; Melver, Catherine Ward; Robin, Nathaniel H; Infante, Elena M; McGuire, Marianne; El-Gharbawy, Areeg; Littlejohn, Rebecca O; McLean, Scott D; Bi, Weimin; Bacino, Carlos A; Lalani, Seema R; Scott, Daryl A; Eng, Christine M; Yang, Yaping; Schaaf, Christian P; Walkiewicz, Magdalena A


    SON is a key component of the spliceosomal complex and a critical mediator of constitutive and alternative splicing. Additionally, SON has been shown to influence cell-cycle progression, genomic integrity, and maintenance of pluripotency in stem cell populations. The clear functional relevance of SON in coordinating essential cellular processes and its presence in diverse human tissues suggests that intact SON might be crucial for normal growth and development. However, the phenotypic effects of deleterious germline variants in SON have not been clearly defined. Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies.

  5. Preconception care for women with diabetes and prevention of major congenital malformations.

    Kitzmiller, John L; Wallerstein, Robert; Correa, Adolfo; Kwan, Saiyin


    This article provides an overview of the rationale for diabetes preconception care interventions for women with diabetes and the efficacy in reducing the excess occurrence of major congenital malformations. The problems with broad use of individualized preconception care are considered. In addition, suggestions are made for the implementation of more comprehensive interventions in the community and usual diabetes care settings, to address the multiple ongoing challenges in the prevention of structural anomalies associated with preexisting diabetes. Based on the published evidence, successful preconception care can be considered to include: achievement of individualized target standardized glycosylated hemoglobin levels, adequate nutrition, and minimizing hypoglycemia before and after discontinuing effective contraception and during the transition to early prenatal care.

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

    İsmail Yılmaz


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

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

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


    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.

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

    Fabricio González-Andrade


    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

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

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


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

  10. Congenital malformations of the ear and cochlear implantation in children: review and temporal bone report of common cavity.

    Graham, J M; Phelps, P D; Michaels, L


    The objective of this review is to analyze aspects of congenital malformation of the ear in relation to cochlear implantation in children. Having briefly described the in utero development of the ear and the classification of types of external, middle and inner ear malformation, five practical aspects of these malformations are discussed. It seems likely that the combination of bilateral profound sensorineural deafness with bilateral microtia severe enough to make a surgical approach to the cochlea difficult will be extremely uncommon. No such cases have been reported, although Klippel-Feil deformity seems the syndrome most likely to produce this set of circumstances. Abnormalities in the intratympanic course of the facial nerve have been associated with cochlear malformation, emphasizing the benefit of intra-operative facial nerve monitoring, and a technique suggested for safely avoiding an abnormally placed nerve. Fistulae of cerebrospinal fluid (CSF) and perilymph can complicate surgery and are relatively common in common cavity and Mondini malformations. Strategies for facilitating surgery in the presence of 'gushers', for measuring the pressure of a gusher and for placement of the cochlear implant electrode array are reviewed, with reports of fluctuating levels of electric current when implants lie in dysplastic cochleas. The relationship of implant performance to VIIIth nerve tissue in malformed cochleas is discussed, with a description of the histological findings in a common cavity cochlea. Techniques for identifying the absence of the cochlear nerve are reviewed. Stimulation of the facial nerve by cochlear implants has been described in cases of congenital malformation of the labyrinth but is relatively uncommon. Case reports of the benefit received by implanted children with congenital cochlear malformation have appeared since 1988. Most cases reported have not yet been followed for long enough to establish a clear picture of the outcome following

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

    D. V. Dmitrenko


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

  12. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

    Helen R Griffin

    Full Text Available Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF gene in causing congenital cardiovascular malformation (CVM. However, results have been discrepant between studies and no study to date has comprehensively characterised variation throughout the gene. We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF, and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF. We carried out a meta-analysis of previous case-control or family-based studies that had typed VEGF promoter SNPs, which included an additional 570 CVM cases. To identify rare variants potentially causative of CVM, we carried out mutation screening in all VEGF exons and splice sites in 93 TOF cases. There was no significant effect of any VEGF haplotype-tagging SNP on the risk of CVM in our analyses of 771 probands. When the results of this and all previous studies were combined, there was no significant effect of the VEGF promoter SNPs rs699947 (OR 1.05 [95% CI 0.95-1.17]; rs1570360 (OR 1.17 [95% CI 0.99-1.26]; and rs2010963 (OR 1.04 [95% CI 0.93-1.16] on the risk of CVM in 1341 cases. Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility.

  13. Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

    Dowton, S B; Hing, A V; Sheen-Kaniecki, V; Watson, M. S.


    Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defect...

  14. Current Management of Epilepsy and Pregnancy: Fetal Outcome, Congenital Malformations, and Developmental Delay.

    Katz, Jeffrey M.; Pacia, Steven V.; Devinsky, Orrin


    Purpose. Women with epilepsy (WWE) reportedly have increased rates of pregnancy complications and poor fetal outcomes related to both their epilepsy and antiepileptic drugs (AEDs). These results influence decisions about conceiving. Most published studies evaluate WWE treated before 1990. We sought to better define risks to pregnant WWE at a tertiary care center, which used current epilepsy guidelines.Methods. We retrospectively analyzed 100 consecutive pregnancies in WWE from 1990 to 2000. Maternal data: epilepsy syndrome, duration, AEDs used, seizure occurrence and frequency, delivery type and complications. Fetal outcomes: fetal birth weight (FBW), gestational age, incidence of prematurity, major and minor congenital malformations, developmental delay.Results. Maternal factors: 37% generalized and 63% partial epilepsies, 59% seizure-free throughout pregnancy, 30% increased and 22% decreased seizure frequency, 90% used AEDs, 21% required polytherapy, 98% took folate, and 48% with gestational seizures delivered by cesarean section, compared with 18% without seizures (P WWE treated with current epilepsy management, the majority had excellent outcomes. Future large studies must confirm this.

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

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


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

  16. Antenatal Diagnosis and Outcome of 12 Congenital Cystic Adenomatoid Malformation of Lung

    Xue-lian LI; Yu-qing ZHOU; Jue-hua ZHANG; Ying-liu YAN; Xiao-tian LI


    Objective To investigate the ultrasonic detection probability, type, prenatal diagnosis, and outcome of congenital cystic adenomatoid malformation of lung (CCAM).Methods In this retrospective study, all 12 cases which were diagnosed with suspected prenatal CCAM over the period in the hospital were analyzed. Information on diagnosis time, types and progression of the lesions during pregnancy, the additional abnormalities, and the outcome of pregnancies were recorded.Results The positive rate of ultrasonic detection of CCAM was about 1.01%o (1/11 124) before 28 gestation weeks. There were 1 case of type Ⅰ (8% ), 2 cases of type Ⅱ (17%) and 9 cases of type Ⅲ (75%). Nine pregnancies were terminated and 2 cases were confirmed by pathology.Three neonates were alive and without any symptom now.Conclusions Type Ⅲ is the major type. Ultrasound examination during 20-28 weeks and following up, prenatal consultation, chromosome examination of fetus, delivery with a pediatrician standing by, and all suspected neonates being investigated are recommended.

  17. Management of prenatally diagnosed congenital malformations--actual problems and the importance of an interdisciplinary team approach.

    Stauffer, U G


    Today's methods of prenatal diagnosis, i.e., ultrasound, amniocentesis, and fetoscopy, allow for early recognition of abnormalities in the fetus. Trials of surgery on human fetuses are widely discussed in scientific as well as lay journals; they are accepted with enthusiasm by some and severely criticized as unethical by others. This report deals with the modern concepts of prenatal diagnosis and possible therapy in the light of current general social context. Some of the arising controversies and ethical problems are shown. The consequences of prenatal diagnosis of congenital malformations of the fetus are separately discussed with reference to the mother, the family, and society on one side and to the fetus itself on the other. The practical question of whether the fetus is already a person or not is seen against its historical, religious, and philosophical background. The necessity for an interdisciplinary team approach in dealing with mothers bearing malformed children--i.e., cooperation of obstetricians, pediatric surgeons, neonatologists, geneticians, neurologists, etc.--is stressed, and the contribution of the pediatric surgeon within this team is discussed in detail, with practical examples given. The present status of intrauterine therapy is summarized and critically evaluated. Finally, an example is given of the ideal team approach in a case of prenatally diagnosed congenital cystic adenomatoid malformation with a successful outcome and long-term survival.

  18. Congenital cerebral malformations and dysfunction in fetuses and newborns following the 2013 to 2014 Zika virus epidemic in French Polynesia.

    Besnard, Marianne; Eyrolle-Guignot, Dominique; Guillemette-Artur, Prisca; Lastère, Stéphane; Bost-Bezeaud, Frédérique; Marcelis, Ludivine; Abadie, Véronique; Garel, Catherine; Moutard, Marie-Laure; Jouannic, Jean-Marie; Rozenberg, Flore; Leparc-Goffart, Isabelle; Mallet, Henri-Pierre


    We detected an unusual increase in congenital cerebral malformations and dysfunction in fetuses and newborns in French Polynesia, following an epidemic of Zika virus (ZIKV), from October 2013 to March 2014. A retrospective review identified 19 cases, including eight with major brain lesions and severe microcephaly, six with severe cerebral lesions without microcephaly and five with brainstem dysfunction without visible malformations. Imaging revealed profound neurological lesions (septal and callosal disruption, ventriculomegaly, abnormal neuronal migration, cerebellar hypoplasia, occipital pseudocysts, brain calcifications). Amniotic fluid was drawn from seven cases at gestation weeks 20 to 29. ZIKV RNA was detected by RT-PCR and infectious ZIKV isolates were obtained in four of five microcephalic, but not in two non-microcephalic cases with severe brain lesions. Medical termination of pregnancy was performed in eleven cases; two cases with brainstem dysfunction died in the first months of life; six cases are alive, with severe neurological impairment. The results show that four of seven tested fetuses with major neurological injuries were infected with ZIKV in utero. For other non-microcephalic, congenital abnormalities we were not able to prove or exclude ZIKV infection retrospectively. The unusual occurrence of brain malformations or dysfunction without microcephaly following a ZIKV outbreak needs further studies.

  19. Patterns of Congenital Malformations and Barriers to Care in Eastern Democratic Republic of Congo.

    Luc Malemo Kalisya

    Full Text Available An increase of congenital anomalies in the eastern Democratic Republic of the Congo (DRC has been reported. Congenital malformations (CMs are not uncommon among newborns and, if left untreated, can contribute to increased neonate morbidity and mortality.Medical records of all individuals admitted with a diagnosed CM to HEAL Africa Teaching Hospital (Goma, DRC from 2002 to 2014 (n=1301 were reviewed. Data were analysed using descriptive statistics to summarize chart records, and inferential statistics to investigate significant barriers to earlier treatment.Since 2012, the number of patients treated each year for CMs has increased by over 200% compared to the average annual number of cases treated from 2002-2011. Though delayed presentation of patients to HEAL Hospital was very obvious, with an average age of 8.2 years. We find that patient age has been significantly decreasing (p=0.037 over time. The average distance separating patients from HEAL Hospital was 178 km, with approximately one third living 350 km or further from the treatment center. Distance is the most significant (p=3.33x10(-6 barrier to earlier treatment. When controlling for an interaction between gender and the use of mercy funds, we also find that female patients are at a significant (p=1.04x10(-3 disadvantage to undergo earlier corrective surgery. This disadvantage is further illustrated by our finding that 89% of women and girls, and over 81% of all patients, required mercy funds to cover the cost of surgery in 2014. Lastly, the mortality rate for surgery was low and averaged less than 1.0%.Despite a formal end to the war in 2009, and an overall increase in individuals undergoing corrective surgery, distance, poverty, and gender are still massive barriers to CM care at HEAL Hospital, Goma, DRC. We find that patients have been successfully treated earlier by HEAL, although the average age of CM correction in 2014 (4.9 years is still above average for Sub-Saharan Africa. Thus

  20. Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

    Dowton, S B; Hing, A V; Sheen-Kaniecki, V; Watson, M S


    Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defects with 18q- in this patient suggests the possibility that a gene important for somite formation or vertebral differentiation maps to this segment of chromosome 18.

  1. Antiepileptic drug teratogenesis: what are the risks for congenital malformations and adverse cognitive outcomes?

    Harden, Cynthia L


    Antiepileptic drug (AED) exposure in utero has been associated with major congenital malformations (MCMs) and adverse cognitive outcomes in the offspring of women with epilepsy (WWE). However, determining the exact risk and the relative risks of AEDs for these outcomes has been challenging, and only in recent years has improved study designs enabled us to get a clearer picture of the risks. Still, there is a startling lack of information for many of the newer and widely used AEDs. At this point of time, studies clearly show that valproate (VPA) as a part of polytherapy or when used as a monotherapy is associated with an increased risk of MCMs, and that it poses about threefold the risk of carbamazepine (CBZ). It is unclear if any other AEDs studied pose an increased risk of MCM occurrence; in the best available large study the absolute rates of MCMs with other several other AEDs were not different from untreated WWE. The absolute risks have been reported as CBZ 2.2%, lamotrigine (LTG) 3.2%, phenytoin (PHT) 3.7%, untreated WWE 3.5%, with VPA as the outlier at 6.2%. In utero VPA exposure is also associated with a risk of lower verbal intelligence quotient (IQ) in children, at approximately 10 points lower than controls. CBZ appears to pose no risk to cognitive outcome, and there is some evidence that PHT and phenobarbital (PB) may be associated with risk of reduced cognitive outcome. Polytherapy is associated with greater risk than monotherapy for both MCMs and cognitive outcome. Although more information is needed and hopefully will be obtained from ongoing prospective studies, it is clear that WWE taking VPA and planning pregnancy should have a discussion with their physician about considering changing to another AED before pregnancy, if possible.

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

    Peter Agergaard


    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

  3. Congenital malformations of the brain: Pathological, embryological, clinical, radiological, and genetic aspects

    Norman, M.G.; McGillivray, B.; Kalousek, D.K.; Hill, A.; Poskitt, K.


    Although I can quibble with the treatment of a few topics, this is by far the best book ever written on human brain malformations. The senior author has studied the pathology of human brain malformations throughout her career and has strengthened the book greatly by seeking coauthors to help with critical areas such as brain imaging, clinical management, and, especially, genetics.

  4. A rare case of Chiari type-1 malformation accompanied by symptomatic cerebrospinal fluid hypovolemia: comparison of congenital Chiari type-1 malformation and acquired Chiari malformation secondary to cerebrospinal fluid hypovolemia: case report.

    Hatae, Ryusuke; Kohri, Ryusuke; Maeda, Kazushi; Miyazono, Masayuki


    A 23-year-old woman was injured in a rear-end collision. She had general malaise and posterior neck pain, which were more severe when she was in an upright position. Magnetic resonance imaging (MRI) revealed the presence of cerebellar tonsil descensus and syringomyelia in the spinal cord. Radioisotope (RI) cisternography showed signs of an early accumulation of RI in the bladder, and a delayed accumulation of RI in the cerebral fornix. We considered the possibilities of cerebrospinal fluid (CSF) hypovolemia and congenital Chiari type-1 malformation as being responsible for her headache. To obtain a definitive diagnosis, we performed gadolinium (Gd)-enhanced MR cisternography and found evidence of CSF leakage. We performed an epidural blood patch (EBP), and her symptoms resolved. In 2 years since the episode, her symptoms have not recurred, and additional treatment has not been required. In addition, MRI performed 2 years after the EBP did not reveal any changes. There seems no previous report which described successful differentiation of pre-existing congenital Chiari type-1 malformation from the acquired one caused by symptomatic CSF hypovolemia. Because treatment protocols differ between these two conditions, the establishment of a correct diagnosis is important.

  5. Congenital malformations of the flipper in three West Indian manatees, Trichechus manatus, and a proposed mechanism for development of ectrodactyly and cleft hand in mammals.

    Watson, A G; Bonde, R K


    Three cases of congenital ectrodactyly of the flipper in the manatee are described, including one case of bilaterally-symmetrical cleft hand. A hypothesis assumes that a defect in the apical ectodermal ridge (AER) in the developing hand plate of the early embryo is the initiating factor in the development of ectrodactylous and cleft hand malformations in man and other mammals. Variations in the site, extent, and time of the AER defect will account for many of the morphologic variations observed in these congenital malformations.

  6. Exposure to fluconazole and risk of congenital malformations in the offspring: A systematic review and meta-analysis.

    Alsaad, Abdulaziz M S; Kaplan, Yusuf C; Koren, Gideon


    Vulvovaginal candidiasis (VVC) affects up to 75% of women at least once during their lifetime, mostly during the reproductive age, and recurrence rate is about 50%. Because half of all pregnancies are unplanned and pregnant women have an increased risk of VVC recurrence, the likelihood of inadvertently being exposed to fluconazole in pregnancy is increased. Thus, we aimed to examine the risk of congenital malformations in the offspring of women exposed to fluconazole in the first trimester of pregnancy. The rate for overall malformations was 1.10 (95% CI 0.98-1.25), for heart defect was 1.29 (95% CI 1.05-1.58), for craniofacial defects was 1.25 (95% CI 0.88-1.77), and for limb/musculoskeletal defects was 0.82 (95% CI 0.59-1.13). In conclusion, the use of fluconazole in the first trimester does not appear to increase the overall risk for congennital malformations. More studies are needed to address the potential increased rate of heart defects.

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

    Larsen, A D; Hannerz, H; Thulstrup, A M


    (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......OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth...... strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression...

  8. Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation

    Lely A. Quina


    Hmx1 is a homeodomain transcription factor expressed in the developing eye, peripheral ganglia, and branchial arches of avian and mammalian embryos. Recent studies have identified a loss-of-function allele at the HMX1 locus as the causative mutation in the oculo-auricular syndrome (OAS in humans, characterized by ear and eye malformations. The mouse dumbo (dmbo mutation, with similar effects on ear and eye development, also results from a loss-of-function mutation in the Hmx1 gene. A recessive dmbo mutation causing ear malformation in rats has been mapped to the chromosomal region containing the Hmx1 gene, but the nature of the causative allele is unknown. Here we show that dumbo rats and mice exhibit similar neonatal ear and eye phenotypes. In midgestation embryos, dumbo rats show a specific loss of Hmx1 expression in neural-crest-derived craniofacial mesenchyme (CM, whereas Hmx1 is expressed normally in retinal progenitors, sensory ganglia and in CM, which is derived from mesoderm. High-throughput resequencing of 1 Mb of rat chromosome 14 from dmbo/dmbo rats, encompassing the Hmx1 locus, reveals numerous divergences from the rat genomic reference sequence, but no coding changes in Hmx1. Fine genetic mapping narrows the dmbo critical region to an interval of ∼410 kb immediately downstream of the Hmx1 transcription unit. Further sequence analysis of this region reveals a 5777-bp deletion located ∼80 kb downstream in dmbo/dmbo rats that is not apparent in 137 other rat strains. The dmbo deletion region contains a highly conserved domain of ∼500 bp, which is a candidate distal enhancer and which exhibits a similar relationship to Hmx genes in all vertebrate species for which data are available. We conclude that the rat dumbo phenotype is likely to result from loss of function of an ultraconserved enhancer specifically regulating Hmx1 expression in neural-crest-derived CM. Dysregulation of Hmx1 expression is thus a candidate mechanism for congenital ear

  9. No Major Role for Periconceptional Folic Acid Use and Its Interaction with the MTHFR C677T Polymorphism in the Etiology of Congenital Anorectal Malformations

    Wijers, Charlotte H. W.; de Blaauw, Ivo; Zwink, Nadine; Draaken, Markus; van der Zanden, Loes F. M.; Brunner, Han G.; Brooks, Alice S.; Hofstra, Robert M.; Sloots, Cornelius E. J.; Broens, Paul M. A.; Wijnen, Marc H.; Ludwig, Michael; Jenetzky, Ekkehart; Reutter, Heiko; Marcelis, Carlo L. M.; Roeleveld, Nel; van Rooij, Iris A. L. M.


    Background: Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic acid supplements were inconsistently suggested to play a role in the prevention of ARM. Therefore, we investigated independ

  10. The Impact of Different Case Ascertainment Definitions on the Prevalence of Major Congenital Malformations and their Association with Asthma During Pregnancy.

    Eltonsy, Sherif; Forget, Amelie; Blais, Lucie


    Objectives To compare the prevalence of major malformations using different case ascertainment definitions and to evaluate their impact on maternal asthma-major malformations association. Methods A cohort of pregnancies with and without asthma between 1990 and 2010 was formed. We used two classification methods: the Two step Congenital Malformation Classification (TCMC) and the Canadian Congenital Anomalies Surveillance System (CCASS). Within each method, three case definitions were compared: (1) ≥1 diagnosis in the hospital database; (2) ≥1 diagnosis in the hospital database or ≥2 in the medical claims; and (3) ≥1 diagnosis in the hospital database or ≥1 in the medical claims. We calculated the prevalence of major malformations and adjusted odds ratios (aORs) for maternal asthma association. Results Of 467,946 pregnancies, 12.3 % were with active asthma. The prevalence estimates were: TCMC 5.10-7.08 % and CCASS 7.03-10.57 %. Asthma-major malformations association was weaker with the CCASS (aOR 1.14-1.20) versus TCMC (aOR 1.22-1.26). Discussion The case ascertainment definitions with ≥1 hospitalization are likely to be the most reliable in similar administrative databases. The case ascertainment definition had a considerable impact on the prevalence of major malformations, but hardly influenced the aORs. Future studies should formally assess the validity of the case ascertainment definitions and allow generalizability to other maternal exposures.

  11. Congenital malformations in the Fylde region of Lancashire, England 1957-1973.

    Lovett, A A; Gatrell, A C; Bound, J P; Harvey, P W; Whelan, A R


    This paper uses data collected by a consultant paediatrician to examine variations in the prevalence of neural tube and cardiovascular malformations within the Fylde region of North West England. Results at the district scale indicate contrasts in the geographical distributions of the two classes of malformation and these are then further assessed via a case-control study which standardises for factors such as date of conception, age of mother and parity. The results of this study suggest that there were wards in Blackpool and Fleetwood with unusually high prevalences of neural tube defects. Further research is being undertaken to identify the causes of these concentrations.

  12. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.

    Wijers, C.H.W.; Blaauw, I. de; Marcelis, C.L.M.; Wijnen, R.M.H.; Brunner, H.G.; Midrio, P.; Gamba, P.; Clementi, M.; Jenetzky, E.; Zwink, N.; Reutter, H.; Bartels, E.; Grasshoff-Derr, S.; Holland-Cunz, S.; Hosie, S.; Marzheuser, S.; Schmiedeke, E.; Cretolle, C.; Sarnacki, S.; Levitt, M.A.; Knoers, N.V.A.M.; Roeleveld, N.; Rooij, I.A.L.M. van


    PURPOSE: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities.

  13. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

    C.H.W. Wijers (Charlotte); I. de Blaauw (Ivo); C.L.M. Marcellis; R.M.H. Wijnen (René); H. Brunner (Han); P. Midrio (Paola); P. Gamba (Piergiorgio); M. Clementi (Maurizio); E. Jenetzky (Ekkehart); N. Zwink (Nadine); H. Reutter (Heiko); E. Bartels (Enrika); S. Grasshoff-Derr (Sabine); S. Holland-Cunz (Stefan); S. Hosie (Stuart); S. Märzheuser (Stefanie); E. Schmiedeke (Eberhard); C. Crétolle (Célia); S. Sarnacki (Sabine); M.A. Levitt (Marc); N.V.A.M. Knoers (Nine); N. Roeleveld (Nel); I.A.L.M. Rooij (Iris)


    textabstractPurpose: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research

  14. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner′s syndrome

    Jane Jackie David


    Full Text Available We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner′s syndrome.

  15. Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner's syndrome.

    David, Jane Jackie; Mohanlal, Smilu; Sankhe, Punam; Ghildiyal, Radha


    We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner's syndrome).

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

    Babita Ramani


    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

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

    Zhang Yi


    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.

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

    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)


    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.)

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

    Sountoulides P


    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.

  20. Protection from phenytoin-induced congenital malformations by coadministration of the antiepileptic drug stiripentol in a mouse model.

    Finnell, R H; Kerr, B M; van Waes, M; Steward, R L; Levy, R H


    To test the hypothesis that the cytochrome P-450-inhibiting antiepileptic drug (AED) stiripentol (STP) can reduce the incidence of phenytoin (PHT) induced congenital malformations, we chronically administered the AEDs to three inbred mouse strains. The frequency of congenital defects in PHT-treated animals was dosage dependent, ranging from 7 to 55%. When STP was coadministered orally with PHT, there was a significant reduction in fetal defects in SWV and C57BL/6J mouse strains. A replication of the experiment was conducted with addition of a seventh group of mice that received the high dosage of PHT together with STP. In the replicate, all three strains demonstrated a significant reduction in fetal defects in fetuses exposed to PHT (60 mg/kg) and STP (200 mg/kg) as compared with PHT (60 mg/kg) monotherapy. These results strongly suggest that oxidative metabolites activated by cytochrome P-450 are the primary teratogenic molecules involved in PHT-induced teratogenesis and that clinical management of pregnant epileptic patients may be improved through heightened awareness of these drug interactions.

  1. Outcome after surgical repair of congenital cardiac malformations at school age.

    Rijken, R.E.A. van der; Maassen, B.A.M.; Walk, T.L.M.; Daniels, O.; Hulstijn-Dirkmaat, G.M.


    OBJECTIVES: To explore the long-term physical, educational, behavioural, and emotional outcome of patients undergoing surgical correction of congenital cardiac disease at school age, and to investigate the relation, if any, between the outcome and comorbidity, age and sex, and level of complexity of

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

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


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

  3. Congenital limb malformations and perinatal management%肢体先天畸形与围产期管理

    沈杰; 田文; 赵俊会; 尹芳; 贺玉英


    Objective To investigate the relationship of congenital limb malformations and perinatal management. Methods Totally 156 patients with congenital limb malformations hospitalized in Beijing Jishuitan Hospital Hand Surgery from January 2012 to June 2013 were investigated. Results In the 156 patients, 149 (95.51%) patients' B-ultrasound results are normal, the detection rate is about 4.49%;83 ( 53.2%) children's congenital malformations were found by the doctor at birth, the rate of intrapartum diagnosis is low; there are 26 patients with family histories, the parents of 23 (88.46%) children do not know genetic counseling or genetic examination, the parents of 17 (65.38%) children think that there is no medical procedure recommended by the medical staff or checking their genetic counseling, the rates of awareness and implementation of genetic counseling and genetic examination are low. Conclusion Currently the detection rate, the intrapartum diagnosis rate and the rates of awareness and implementation of genetic counseling and genetic examination are low, but with the further development of medicine, the improvement of instrument quality, especially the improvement of medical awareness with front-line medical staff, the detection rate, the intrapartum diagnosis rate and the rates of awareness and implementation of genetic counseling and genetic examination will be improved.%目的:探讨肢体先天畸形的发生与围产期管理的关系。方法采用方便取样法对2012年1月-2013年5月至北京积水潭医院手外科住院治疗的156例肢体先天畸形的患儿进行问卷调查。结果本组156例患儿中,152例患儿母亲通过B超进行排畸筛查,其中149例(95.51%)的B超检查结果为正常,即检出率约为4.49%,漏诊率95.51%;仅有83例(53.2%)患儿的先天畸形在出生时由医生发现,产时诊断率较低;在有家族史的26例患儿中,有23例(88.46%)患儿家长不知道何为遗

  4. Congenital malformations and infant mortality from the Chernobyl reactor accident; Angeborene Fehlbildungen und Saeuglingssterblichkeit nach dem Reaktorunfall in Tschernobyl

    Schoetzau, A.; Santen, F. van; Irl, C.; Grosche, B.


    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.) [Deutsch] Der vorliegende Bericht beschaeftigt sich mit den Folgen der Strahlenexposition in Bayern nach dem Reaktorunfall in Tschernobyl. Es wurde der Frage nachgegangen, ob eine Zunahme negativer gesundheitlicher Wirkungen in hoeher exponierten Bevoelkerungsgruppen im Vergleich zu niedriger exponierten feststellbar war. Der Expositionsstatus wurde nach der Bodenkontamination des Wohnortes bestimmt. Entsprechend der unterschiedlichen Hoehe des Radiocaesium-Gehaltes in Bodenproben wurde die Bevoelkerung der drei suedlichen bayerischen Regierungsbezirke `Oberbayern`, `Niederbayern` und `Schwaben` (Suedbayern) als hoeher und die Bevoelkerung der vier noerdlichen Regierungsbezirke `Oberpfalz`, `Oberfanken`, `Mittelfranken` und `Unterfranken` (Nordbayern) als niedriger exponiert definiert. Als Indikatoren fuer gesundheitliche Wirkungen wurden Veraenderungen der Geburtspraevalenz von Kindern mit ausgewaehlten angeborenen Fehlbildungen sowie Veraenderungen in den Raten der perinatalen Mortalitaet und der Gesamtsterblichkeit

  5. Congenital malformations and other reproductive losses in goats due to poisoning by Poincianella pyramidalis (Tul.) L.P. Queiroz (=Caesalpinia pyramidalis Tul.).

    Santos Dos Reis, Suélen Dias; de Oliveira, Ricardo Santana; Correia Marcelino, Sóstenes Apolo; Silva Almeida E Macêdo, Juliana Targino; Riet-Correa, Franklin; da Anunciação Pimentel, Luciano; Ocampos Pedroso, Pedro Miguel


    In the semiarid region of Brazil, in areas with vegetation composed mainly of Poincianella pyramidalis, several cases of congenital malformation and reproductive losses were observed in goats and sheep from 2012 to 2014. To determine the teratogenic effect of P. pyramidalis, two groups of eight goats each were used. Goats from Group 1 received fresh P. pyramidalis, harvested daily, as the only roughage during the whole breeding and pregnancy period. Goats in Group 2 (control) received Cynodon dactylon (tifton) hay free choice. Ultrasound examination for pregnancy diagnosis was performed every 28 days. Four goats from Group 1 were pregnant on day 28 but not on day 56, suggesting embryonic death or abortion. Another goat from Group 1 died at day 70 of pregnancy, and the fetuses exhibited micrognathia. The other three goats bore six kids, three of which showed bone malformations in the limbs, spine, ribs, sternum, and head, including arthrogryposis, scoliosis and micrognathia. One kid also showed hypoplasia of the left pulmonary lobes. In the control group, all goats bore a total of 13 kids and none of them exhibited malformations. These results demonstrated that P. pyramidalis causes congenital malformations and other reproductive losses in goats.

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

    Mohamed El Koumi


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

  7. Value of computer tomography in the diagnosis of congenital spinal malformations particulary diastematomyelia

    Claussen, C.; Banniza von Bazan, U.; Jaschke, W.; Schilling, V.


    The value of computer tomography (CT) in the diagnosis of diastematomyelis (DM) was studied in our own clinical material. Thirty-one patients with congenital spinal anomalies were examined; in 21 a DM could be demonstrated. CT has two major advantages in the radiological investigation of spinal abnormalities, such as spinal dysraphism and DM: 1. Cross sections of the spinal canal can be obtained without overlying opacities and 2. the demonstration of intraspinal soft tissues structures, corresponding to their attenuation characteristics and the relative differences in absorption of the X-rays.

  8. A case report of congenital umbilical arteriovenous malformation complicated with liver failure after surgical excision

    Han, Ji-Won; Kim, Hyun-Young; Jung, Sung-Eun


    Abstract Rationale: Few case reports of umbilical arteriovenous malformation (AVM) have been reported. Herein, we report a neonatal case of umbilical AVM who underwent liver failure after surgical excision. Patient concerns: The patient was a girl delivered at a gestational age of 39+5 weeks showing cyanosis and heart murmur. Diagnoses: Cardiac echography, abdominal ultrasonography (USG), and computed tomography revealed suspecting the umbilical AVM. Interventions: On the eighth day after birth, because of the aggravation of heart failure, emergency surgery for excision of umbilical AVM was performed. Outcomes: In postoperative state, worsened laboratory test of liver function and coagulopathy indicated the liver failure. Abdominal USG revealed that the portal vein (PV) flow primarily occurred from the left PV to the inferior vena cava via ductus venosus and coarse hepatic echogenicity. After conservative management, laboratory findings of liver function and the flow direction of the left PV were normal, as demonstrated by abdominal USG within 50th postoperative day. Lessons: Careful preoperative evaluation of an AVM of a large size with significant blood flow should be performed, and the possibility of liver failure after surgery should always be considered. PMID:28178121

  9. Temporal characteristics related to leave from work and pregnancy among mothers with congenitally malformed offspring

    Nurminen, M.; Holmberg, P.C.


    The possible impact of occupational factors on the furtherance of congenital defects have been under study at our department for the past 4 years. The topic has assumed a special interest because of the importance of the issue involved, namely the search for a possibility to prevent teratogenesis, and partly because the applicable methods are different from those of customary epidemiology. In connection with a register-based, case-referent study utilizing supplementary information, acquired via questioning, of conditions at the mothers' work places, we analysed various time-related events in their pregnancy. We found that the groups compared differed from each other with regard to the correct timing of the birth, despite the fact that the distribution of the times of stopping work for various reasons were alike. Among mothers who were granted sick leave from work the diagnosis of anencephaly became less common close to the estimated date of delivery, and conversely for the diagnosis of hydrocephaly. The findings of the present study may suggest that the time of assignment for a statutory maternity leave be considered. Methodological issues in study design are also briefly discussed.

  10. Gastrointestinal malformations

    Garne, Ester; Loane, Maria; Dolk, Helen;


    of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital...... malformations for liveborn infants. This may be because the benefits of prenatal diagnosis are outweighed by the problems arising from a lower GA at birth....

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

    Antônio Flávio M Dantas


    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

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

    Polyakov Marina


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

  13. Incidence and distribution of congenital malformations clinically detected at birth: a prospective study at tertiary care hospital

    Mohammad K. Gandhi


    Conclusions: From present study we conclude that incidence of congenital anomalies of CNS was highest amongst all types of congenital anomalies (meningomyelocele being the commonest. More emphasis should be given on prevention by regular antenatal care and avoidance of known teratogens and probable teratogenic agents. [Int J Res Med Sci 2016; 4(4.000: 1136-1139

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

    Hylas Paiva da Costa Ferreira


    Full Text Available OBJETIVO: Determinar as principais malformações congênitas pulmonares e os principais métodos diagnósticos utilizados, assim como as indicações de tratamento cirúrgico e os seus resultados em um serviço de referência de cirurgia torácica pediátrica. MÉTODOS: Foram revisados 52 prontuários de pacientes com diagnóstico anatomopatológico de malformações congênitas pulmonares e que foram submetidos à ressecção pulmonar entre janeiro de 1997 e dezembro de 2006. Os critérios de exclusão foram idade > 12 anos e dados clínicos incompletos. A amostra final foi composta de 35 pacientes. RESULTADOS: Nesta amostra, a média de idade foi de 31 meses, com predominância do sexo masculino (n = 21. Os achados anatomopatológicos foram malformação adenomatoide cística (n = 14, enfisema lobar congênito (n = 13, sequestro pulmonar (n = 8, e malformação arteriovenosa (n = 1. A ressecção mais comum foi a lobectomia inferior esquerda (25,71%, seguida por diferentes tipos de segmentectomia (22,85%, lobectomia superior esquerda (22,85%, lobectomia superior direita (14,28%, lobectomia inferior direita (8,57% e lobectomia média (5,71%. Dos 35 pacientes, 34 (97,14% foram submetidos à drenagem pleural fechada, com tempo médio de permanência do dreno torácico de 3,9 dias. Dez pacientes (28,5% apresentaram complicações pós-operatórias. Não houve óbitos nesta série. CONCLUSÕES: A ressecção pulmonar para o tratamento das malformações pulmonares é um procedimento seguro, apresentando baixa morbidade e nenhuma mortalidade em um serviço de referência para doenças pulmonares.OBJECTIVE: To determine the main congenital lung malformations treated and the principal diagnostic methods employed, as well as the indications for surgical treatment and the results obtained, at a referral facility for pediatric thoracic surgery. METHODS: We reviewed the medical charts of 52 patients anatomopathologically diagnosed with congenital lung

  15. Split Cord Malformations

    Yurdal Gezercan


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

  16. The ejaculatory duct ectopically invading the bladder with multiple congenital malformations of the homolateral urogenital system: a report of a rare case and an embryological review

    Feng Wang; Hong-Fei Wu; Jie Yang


    We report a rare case of a left ejaculatory duct that allotropically protrudes towards or invades the left vesicletriangular area with its dead end. The patient simultaneously exhibited multiple congenital malformations of thehomolateral urogenital system, such as absence of the left kidney, dysplasia and allotopia of the left seminal vesicle,absence of the left ureterostoma, separation between the left testis and the epididymis tail, and maldevelopment ofthe left testis. According to all clinical and laboratory evidence, the case represented a new syndrome, which wenamed Wuyang's syndrome. It involved a rare phenomenon in embryonic development; the dysplastic proximalvas precursor, having intruded into a common mesonephric duct and accidentally encroaching on the ureteric budposition, resulted in the absence or dysplasia of the homolateral urinary tract and ectopic invasion of the bladder bythe homolateral seminal tract.

  17. Risk of neuroblastoma, birth-related characteristics, congenital malformations and perinatal exposures: A pooled analysis of the ESCALE and ESTELLE French studies (SFCE).

    Rios, Paula; Bailey, Helen D; Orsi, Laurent; Lacour, Brigitte; Valteau-Couanet, Dominique; Levy, Dominique; Corradini, Nadège; Leverger, Guy; Defachelles, Anne-Sophie; Gambart, Marion; Sirvent, Nicolas; Thebaud, Estelle; Ducassou, Stéphane; Clavel, Jacqueline


    Neuroblastoma (NB), an embryonic tumour arising from neural crest cells, is the most common malignancy among infants. The aetiology of NB is largely unknown. We conducted a pooled analysis to explore whether there is an association between NB and preconception and perinatal factors using data from two French national population-based case-control studies. The mothers of 357 NB cases and 1783 controls younger than 6 years, frequency-matched by age and gender, responded to a telephone interview that focused on demographic, socioeconomic and perinatal characteristics, childhood environment, life-style and maternal reproductive history. Unconditional logistic regression was used to estimate pooled odds ratios and 95% confidence intervals. After controlling for matching variables, study of origin and potential confounders, being born either small (OR 1.4 95% CI 1.0-2.0) or large (OR 1.5 95% CI 1.1-2.2) for gestational age and, among children younger than 18 months, having congenital malformations (OR 3.6 95% CI 1.3-8.9), were significantly associated with NB. Inverse associations were observed with breastfeeding (OR 0.7 95% CI 0.5-1.0) and maternal use of any supplements containing folic acid, vitamins or minerals (OR 0.5 95% CI 0.3-0.9) during the preconception period. Our findings reinforce the hypothesis that fetal growth anomalies and congenital malformations may be associated with an increased risk of NB. Further investigations are needed in order to clarify the role of folic acid supplementation and breastfeeding, given their potential importance in NB prevention.

  18. 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

    Rafael Fabiano Machado Rosa


    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

  19. Value of multi-slice CT in patients with congenital inner ear malformation before cochlear implantation%多层螺旋CT在内耳畸形的人工耳蜗植入术前评估中的价值

    吴琛; 熊玉伟; 周运锋


    目的:探讨多层螺旋CT在患有内耳畸形的人工耳蜗植入术前评估中的价值。方法:搜集我院因听力障碍拟行人工耳蜗植入的患者34例,所有患者均行多层螺旋CT检查。结果:34例患者中患内耳畸形的有10例共19耳,多数病耳合并多种畸形,其中耳蜗畸形8耳,前庭导水管扩大畸形8耳,前庭、半规管畸形4耳,内听道发育异常3耳。结论:多层螺旋CT扫描结合后处理技术可以更加准确地对内耳畸形做出诊断,在人工耳蜗植入术前具有重要的指导价值。%Objective:To evaluate the value of multi-slice CT in patients with congenital inner ear malformation before cochlear implantation .Methods:Multi-slice CT was performed in 34 patients with hearing impairment before cochlear implantation .Results:In 34 patients,inner ear malformation was de-tected in 10(19 ears),and more cases were complicated with multiple malformations,in which 8 cases were cochlear malformations,8 enlarged vestibular aqueduct malformation,4 vestibule and semi-circular canal malformations,and 3 internal auditory cannal malformations.Conclusion:Multi-slice CT can make accurate diagnosis of congenital inner ear malformations before cochlear implantation .

  20. Spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

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


    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.

  1. Prenatal viral infectiotn and congenital cardiovascular malformations%胎儿病毒感染与先天性心血管畸形



    先天性心血管畸形是小儿最常见的先天性心脏病,胎儿期病毒感染与其发生关系密切.先天性心脏病严重危害儿童身心健康,明确其病因对预防和治疗先天性心脏病有重要的意义.该文综述宫内病毒感染导致先天性心脏病的病因、病毒传播途径、发病机制及预防措施.%As the most common disease for children with congenital heart disease ( CHD),congenital cardiovascular malformations have been closely associated with prenatal viral infectiotn.It is important to clarify the etiology of these diseases because the levels of physical and mental health for children with CHD are seriously damaged,and it also improves the levels of preventing and treating these diseases.This review focuses on the way of infection,pathogenesis and prevention measures for intrauterine viral infections leading to CHD.

  2. One-cell zygote transfer from diabetic to nondiabetic mouse results in congenital malformations and growth retardation in offspring.

    Wyman, Amanda; Pinto, Anil B; Sheridan, Rachael; Moley, Kelle H


    Fetuses of type 1 and 2 diabetic women experience higher incidences of malformations and fetal death as compared with nondiabetics, even when they achieve adequate glycemic control during the first trimester. We hypothesize that maternal diabetes adversely affects the earliest embryonic stage after fertilization and programs the fetus to experience these complications. To test this hypothesis, we transferred either one-cell mouse zygotes or blastocysts from either streptozotocin-induced diabetic or control mice into nondiabetic pseudopregnant female recipients. We then evaluated the fetuses at embryonic d 14.5 to assess fetal growth and the presence or absence of malformations. We found that fetuses from the diabetic mice transferred at the blastocyst stage but also as early as the one-cell zygote stage displayed significantly higher rates of malformations consistent with neural tube closure problems and abdominal wall and limb deformities. In addition, both these groups of fetuses were significantly growth retarded. To determine if this phenomenon was due to high glucose concentrations, two-cell embryos were cultured to a blastocyst stage in 52 mm D-glucose or L-glucose as an osmotic control, transferred into nondiabetic pseudopregnant mice, and examined at embryonic d 14.5. These embryos did not demonstrate any evidence of malformations, however, they did experience significantly higher rates of resorptions, lower implantation rates, and they were significantly smaller at embryonic d 14.5. In summary, exposure to maternal diabetes during oogenesis, fertilization, and the first 24 h was enough to program permanently the fetus to develop significant morphological changes.

  3. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    Royer-Bertrand, Beryl; Castillo-Taucher, Silvia; Moreno-Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos-Xavier, Belinda; Girardi, Enrico; Superti-Furga, Giulio; Bonafé, Luisa; Rivolta, Carlo; Unger, Sheila; Superti-Furga, Andrea


    We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malformations, and for which we propose the name of EVEN-PLUS syndrome for epiphyseal, vertebral, ear, nose, plus associated findings. In three individuals from two families, no mutation in LONP1 was found; instead, we found biallelic mutations in HSPA9, the gene that codes for mHSP70/mortalin, another highly conserved mitochondrial chaperone protein essential in mitochondrial protein import, folding, and degradation. The functional relationship between LONP1 and HSPA9 in mitochondrial protein chaperoning and the overlapping phenotypes of CODAS and EVEN-PLUS delineate a family of “mitochondrial chaperonopathies” and point to an unexplored role of mitochondrial chaperones in human embryonic morphogenesis. PMID:26598328

  4. A single posterior approach for multilevel modified vertebral column resection in adults with severe rigid congenital kyphoscoliosis: a retrospective study of 13 cases.

    Wang, Yan; Zhang, Yonggang; Zhang, Xuesong; Huang, Peng; Xiao, Songhua; Wang, Zheng; Liu, Zhengsheng; Liu, Baowei; Lu, Ning; Mao, Keya


    We report a multilevel modified vertebral column resection (MVCR) through a single posterior approach and clinical outcomes for treatment of severe congenital rigid kyphoscoliosis in adults. Transpedicular eggshell osteotomies and vertebral column resection are two techniques for the surgical treatment of rigid severe spine deformities. The authors developed a new technique combining the two surgical methods as a MVCR, through a single posterior approach, for surgical treatment of severe congenital rigid kyphoscoliosis in adults. Thirteen adult patients with severe rigid congenital kyphoscoliosis deformity were treated by a single posterior approach using a MVCR technique. The surgery processes included a one-stage posterior transpedicular eggshell technique first, and then expanded the eggshell technique to adjacent intervertebra space through abrasive reduction of the vertebral cortices from inside out. All posterior vertebral elements were removed including the cortical vertebral bone around the neural canal. Range of resection of the vertebral column at the apex of the deformity included apical vertebra and both cephalic and/or caudal adjacent wedged vertebrae. Totally, 32 vertebrae had been removed in 13 patients, with 2.42 vertebrae being removed on average in each case. The average fusion extent was 7.69 vertebrae. Mean operation time was 266 min with average blood loss of 2,411.54 ml during operation. Patients were followed up for an average duration of 2.54 years. Deformity correction was 59% in the coronal plane (from 79.7 degrees to 32.4 degrees ) postoperatively and 33.7 degrees (57% correction) at 2 years follow-up. In the sagittal plane, correction was from preoperative 85.9 degrees to 27.5 degrees immediately after operation, and 32.0 degrees at 2 years follow-up. Postoperative pain was reduced from preoperative 1.77 to 0.54 at 2 years follow-up in visual analog scale. SRS-24 scale was from 38.2 preoperatively to 76.9 at 2 years follow

  5. Congenital scoliosis treated with posterior vertebral column resection in patients younger than 18 years: longer than 10-year follow-up.

    Chang, Dong-Gune; Yang, Jae Hyuk; Lee, Jung-Hee; Kim, Jin-Hyok; Suh, Seung-Woo; Ha, Kee-Yong; Suk, Se-Il


    OBJECTIVE There have been no reports on the long-term radiographic outcomes of posterior vertebral column resection (PVCR) in patients with congenital scoliosis. The purpose of this study was to evaluate the surgical outcomes and complications after PVCR and its long-term effects on correcting this deformity in children with congenital scoliosis. METHODS The authors retrospectively analyzed the medical records of 45 patients with congenital scoliosis who were younger than 18 years at the time of surgery and who underwent PVCR and fusion with pedicle screw fixation (PSF). The mean age of the patients at the time of surgery was 11.3 years (range 2.4-18.0 years), and the mean length of follow-up was 12.8 years (range 10.1-18.2 years). RESULTS The mean Cobb angle of the main curve was 46.5° before PVCR, 13.7° immediately after PVCR, and 17.6° at the last follow-up. For the compensatory cranial curve, PVCR corrected the preoperative Cobb angle of 21.2° to 9.1° postoperatively and maintained it at 10.9° at the last follow-up. For the compensatory caudal curve, the preoperative Cobb angle of 23.8° improved to 7.7° postoperatively and was 9.8° at the last follow-up. The authors noted 22 complications, and the overall incidence of complications was 48.9%. CONCLUSIONS Posterior vertebral column resection is an effective procedure for managing congenital scoliosis in patients younger than 18 years. Use of PVCR and fusion with PSF for congenital scoliosis achieved rigid fixation and satisfactory deformity correction that was maintained over the long term. However, the authors note that PVCR is a technically demanding procedure and entails risks for major complications and excessive blood loss.

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

    Rosângela da Silva Santos


    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

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

    Ludovic Martinelle

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

  8. Diagnostic value of transvaginal three-dimensional ultrasound in congenital uterine malformation%经阴道三维超声在先天性子宫畸形中的诊断价值

    吕群星; 黄晓民; 林鹏生; 王雄


    Objective:To discuss the diagnostic value of transvaginal three-dimensional ultrasound in congenital uterine malformation.Methods:35 patients with congenital uterine malformation were selected,the uterine malformation was confirmed by hysteroscopy and pathology,and the patients were retrospectively analyzed.Results:Three dimensional ultrasound of uterine coronal section imaging of the uterine cavity structure,muscle layer and the end of the palace of the shape of the image,to provide the basis for diagnosis of complex uterine malformation.Conclusion:Transvaginal three-dimensional is more conducive to congenital uterine malformations,can improve diagnostic accuracy.%目的:评价经阴道三维超声在先天性子宫畸形中的诊断价值。方法:收治先天性子宫畸形患者35例,并经宫腔镜检及手术后病理证实为子宫畸形,对经检查患者进行回顾分析。结果:三维超声子宫冠状切面成像对宫腔内结构、肌层及宫底的外形图像直观,对复杂性子宫畸形提供了诊断依据。结论:经阴道三维更有助于先天性子宫畸形的诊断,提高诊断准确率。

  9. A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations.

    Alghamdi, Malak A; Ziermann, Janine M; Gregg, Lydia; Diogo, Rui


    Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects. Our results showed that many of the defects found in the fetus with craniorachischisis are similar not only to anomalies previously described in the available works on musculoskeletal phenotypes seen in fetuses with anencephaly and spina bifida, but also to a wide range of other different conditions/syndromes including trisomies 13, 18 and 21, and cyclopia. The fact that similar anomalies are seen commonly not only in a wide range of different syndromes, but also as variants of the normal human population and as the 'normal' phenotype of other animals, supports Pere Alberch's unfortunately named idea of a 'logic of monsters'. That is, it supports the idea that development is so constrained that both in 'normal' and abnormal development one sees certain outcomes being produced again and again because ontogenetic constraints only allow a few possible outcomes, thus also leading to cases where the anatomical defects of some organisms are similar to the 'normal' phenotype of other organisms. In fact, this applies not only to specific anomalies but also to general patterns, such as the fact that in pathological conditions affecting different regions of the body, one consistently sees more defects on the upper limbs than on the lower limbs. Such general patterns are, again, seen in the fetus examined for this study, which had 29 muscle anomalies on the right

  10. 胎儿先天畸形终止妊娠后对患者的心理影响及社会支持%Psychological Influence and Social Supports in Women With Congenital Fetal Malformations After Termination of Pregnancy

    廖书娟; 罗碧如


    胎儿先天畸形是指胎儿由于内在发育异常而引起的器官或身体某部位的形态学缺陷.大部分产前诊断为胎儿先天畸形的孕妇选择接受人工终止妊娠术治疗.终止妊娠后患者可出现焦虑、抑郁和悲伤情绪,而持续长时间或高水平的悲伤情绪常与缺乏有效社会支持有关.目前,对胎儿先天畸形终止妊娠后患者的治疗及护理主要集中于生理方面.作者拟就国外对胎儿先天畸形终止妊娠后女性的心理影响和社会支持的研究进展进行综述如下.%Congenital fetal malformations is a physical defect present in a fetus before birth.Most pregnant women with prediagnosis of congenital fetal malformations accept artificial abortion for treatment.After termination of pregnancy,women usually have emotional problems,such as anxiety,depression and sadness.These problems which can last long-term and high-level are related to lack of psychological and social supports.Nowadays,the treatment and nursing care of women with congenital fetal malformations are only focus on physiological needs after termination of pregnancy instead of social supports.This paper reviewed the psychological influence and social supports in women with congenital fetal malformations after termination of pregnancy.

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

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


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

  12. Cerebral malformations without antenatal diagnosis

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


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

  13. Congenital cytomegalovirus infection in severe fetal malformations%巨细胞病毒宫内感染与胎儿严重畸形的相关性

    林晓倩; 王景美; 刘景丽; 王志群; 戴毅敏; 李洁; 朱湘玉; 茹彤; 周乙华


    Objective To investigate cytomegalovirus (CMV) infection in severe fetal malformations detected by antenatal imaging and to determine the contribution of congenital CMV infection in fetal malformations.Methods From December 2007 to December 2014, 436 pregnant women in Nanjing and surrounding areas, who were found with severe fetal structural malformations by ultrasound and/or magnetic resonance imaging and opted to terminate pregnancy in Nanjing Drum Tower Hospital, were enrolled.Maternal and umbilical cord plasma samples were collected and tested for CMV IgG and IgM by commercial enzyme linked immunosorbent assay kits.A total of 436 fetuses underwent autopsy examinations.Postmortem tissues,including the kidney, lung, liver, skin, heart and placenta, cord blood leukocytes, umbilical cord plasma and amniotic fluid were collected and detected for CMV DNA by real-time polymerase chain reaction.Congenital CMV infection is diagnosed when CMV DNA is positive in fetal kidney tissue and/or CMV IgM is positive in fetal plasma.Data were analyzed by independent sample t test, Chi square test or Fisher's exact test where appropriate.Results Among the 436 fetuses, CMV DNA was positive in seven fetal kidney specimens.In addition, some of the lung, liver, skin, heart and placenta, cord blood leukocytes, and amniotic fluid of the seven fetuses were also CMV positive.Thus, these seven fetuses were diagnosed intrauterine CMV infection.Of 168 fetuses with multiple congenital malformations and 268 fetuses with malformation in single system, one (0.6%)and six (2.2%) cases were CMV infected, respectively.Among the fetuses with malformation in single system,CMV was positive in 6.1% (5/82) with central nervous system anomalies and 1/9 with gastrointestinal system anomalies, but was not detected in babies with anomalies in any other systems.Between the two groups of CMV-infected or non-CMV-infected fetuses, there were no significant differences in maternal age [(25.3 ±3.5)vs (28.4

  14. The Incidence of Congenital Malformation and the Analysis of Related Factors in Changzhi%山西某地区近年先天畸形发生情况及相关因素分析

    贾书花; 王炯; 王改琴; 张旭东; 牛香兰; 田云; 霍小蕾


    目的::了解长治地区近年来先天性畸形的发生情况,探讨畸形发生的相关因素。方法:对8967例新生儿中151例先天畸形进行分析。结果:本次统计先天畸形发生率为168.40/万;畸形发生较高的依次为:神经管畸形、多并指(趾),唇、腭裂。未补充叶酸畸形发生率高于叶酸补充者(P <0.01),≥35岁产妇先天畸形儿发生率高于<35岁者(P <0.01);农村先天畸形发生率高于城市(P <0.01)。结论:先天畸形的发生除与普遍认知的叶酸缺乏相关外,还和父亲生活习惯、医疗条件、卵子及宫内环境、婚源等因素有关。因此,应重视评估父亲对后代的影响,防范有可能诱发畸形的其它因素,以避免先天畸形的发生。%Objective:To understand the incidence of congenital malformation of the region and its influencing factors and to explore the causes and preventive measures of deformity.Methods:151 congenital malformations among 8 967 newborns were analyzed in Obstetrics Department in HeJi Hospital Affiliated to Changzhi Medical College from January 2004 to December 2013.Results:The incidence of congenital malformation was 168.40/million.Higher incidence of malformations was:neural tube defects,finger (toe),cleft lip and cleft palate.Without the supplement of folic acid,the incidence rate of malformation was higher than those with the supplement of folic acid(P <0.01).The maternal congenital deformity rate of those≥35 years old was significantly higher than those<35 years old (P <0.01).The incidence of rural congenital malformation was higher than that of the city (P <0.01).Conclusion:Other than the well-known lack of folic acid,the occurrence of congenital malformation was also associated with the living habits of the father,medical conditions,the source of eggs and intrauterine environment,marriage and other factors.Therefore,the effects of the father to the future generations should be evaluated and paid

  15. Retrospective Analysis of the Relationship between the Outcomes of Chromosome Abnormalities and Congenital Malformations in 99 Cases%胎儿染色体异常与先天畸形类型关系的研究

    张璘; 任梅宏; 张晓红; 宋桂宁; 王建六


    目的:通过对产前诊断中确诊的染色体异常并伴有先天器官畸形的相关资料分析,总结胎儿染色体异常与畸形部位和畸形比例的关系,为提高产前诊断率提供理论依据.方法:回顾性分析2006年1月至2011年12月在北京大学人民医院产前诊断中心诊断并随访证实的染色体异常伴先天畸形的99例患者的临床资料,综合分析不同畸形分类和染色体异常的关系及比率.结果:99例患儿中,常染色体异常76例(76.77%),其中常染色体三体征64例(21-三体38例,18-三体12例,13-三体8例,14-三体1例,16-三体3例,8-三体1例,22-三体1例),常染色体结构异常12例(染色体部分缺失4例,染色体部分三体征8例);性染色体数目或结构异常21例(男性性染色体异常12例,女性性染色体异常9例);三倍体2例.99例患儿中75.76% (75/99)存在1个或多个畸形,64.65%(64/99)同时存在2个或2个以上畸形,19.19%(19/99)同时存在5个或5个以上畸形;65.66% (65/99)伴有不同程度心脏畸形,61.62% (61/99)存在心外脏器畸形.结论:染色体异常可伴有众多基因的增加或减少,可同时伴有多种脏器畸形,不同染色体异常伴发脏器畸形的类型及比率也各不同.建议在产前检查中可疑胎儿脏器畸形者,应进一步行产前细胞遗传学诊断以排除染色体异常的患儿.%Objective:To analyse the clinical data of cases with congenital malformations and chromosome abnormalities,and to investigate the association between congenital malformations and chromosome abnormalities prenatal cases,and to provide base for improving prenatal diagnosis. Methods:The clinical data of cases with congenital malformations and chromosome abnormalities during Jan 2006 to Dec 2011 in the Center of Prenatal Diagnosis of Beijing University People's Hospital were analyzed retrospectively. The associations between the chromosomal karyotypes and the types of congenital malformations were

  16. Gene screening for congenital anorectal malformations%基因芯片筛选先天性肛门直肠畸形相关基因

    王大佳; 白玉作; 贾慧敏; 黄英; 张志波; 高红; 张涛; 袁正伟; 王维林


    Objective To screen the candidate genes of congenital anorectal malformations (ARMs) by cDNA chip screening. Methods The gene expressions of the terminal rectum tissues of two high ARM infants and one infant who died of non-gastroenteric disease were analyzed by Affy-metrix Human Genome U133 Plus 2.0 Array. The level of 7 candidate genes was detected and proved by RT-PCR. Results The expression of 776 genes was found to be more than 2 times greater than that of the control, including 399 down-regulated genes and 377 up-regulated genes in patients with high ARMs. The expression of 259 genes was found to be 4 times greater than that of the control, in-cluding 150 down-regulated genes and 109 up-regulated genes. RT-PCR showed the expression of RHOB and HOXA5 in rectal terminal of patients with high ARMs was higher than that in the control. However, the expressions of SOX11, MMP7, SALL1, NKX3-1 and EPHB2 in the terminal rectum of patients with high ARMs were lower than those in control Conclusions cDNA gene chip microarray can be used to screen candidate genes which may contribute in the pathogenesis of congenital anorectal malformations. Anorectal malformations have a multifactorial and polygenic background. Gene screen-ing on congenital ARMs can provide solid basis for the etiologic and pathophysiologic study on congen-ital ARMs.%目的 应用基因芯片筛选先天性肛门直肠畸形(ARM)的相关基因.方法 用Affy-metrix U133 Plus 2.0表达谱芯片对2例高位肛门直肠畸形直肠末端及1例死于非胃肠道疾病患儿直肠末端组织的基因表达谱进行分析.应用RT-PCR的方法对筛选出的7个表达差异基因进行了表达水平的实验验证.结果 肛门直肠畸形直肠末端与正常直肠末端组织中表达差异在2倍以上的基因有776条,其中ARM下调的基因有399条,上调基因377条.差异表达4倍以上的基因259条,其中ARM下调的基因有150条,上调的基因109条.RT-PCR技术验证的7

  17. Application of spiral CT in the diagnosis of pediatric pectus excavatum associated with other congenital malformations%螺旋CT在儿童漏斗胸合并其它先天性畸形中的应用价值

    沈杰; 彭芸; 曾骐; 张祺丰; 曾津津


    Objective: To evaluate the value of spiral CT in the diagnosis of pediatric pectus excavatum associated with other congenital malformations. Methods: The clinical and imaging materials of 283 patients having pectus excavatum were retrospectively analyzed. The varieties and distribution of associated congenital malformations were recorded. Results :Of the 283 patients with pectus excavatum,47 patients (16.61 % ) associated with congenital malformations. Scoliosis was the most common malformation and accounted for 4.95%. According to the body systcms,the incidence rates were listed as follows : skeletal and muscular system (8.48 % ) , respiratory system (5.65 % ) , cardiovascular system ( 1.77 % ) , urinary system (1.06%) , respectively. Conclusion: Detailed anatomical information for the diagnosis of pectus excavatum associated with congenital malformation could be assessed on spiral CT,which provided important and accurate information for operation planning.%目的:探讨螺旋CT在漏斗胸合并其它先天性畸形中的应用价值.方法:回顾性分析283例手术前行螺旋CT检查并采用螺旋CT重组技术的漏斗胸患儿临床及影像资料,分类记录漏斗胸患儿合并各种其它先天性畸形的种类及分布比例.结果:本组漏斗胸病例中合并其它先天性畸形47例,占16.61%.其中合并脊柱侧弯的比例最大(4.95%).按系统的分类发病率依次为骨骼与肌肉系统(8.48%)、呼吸系统(5.65%)、心血管系统(1.77%)、泌尿系统(1.06%).结论:螺旋CT可为漏斗胸患儿提供术前的全面分析和综合评估,有助于发现漏斗胸合并其它畸形,可为手术方案的制定提供重要依据.

  18. 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

    Melania Maria Ramos de Amorim


    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

  19. 先天性并指畸形治疗的回顾性分析%Retrospective study of treatment in malformation congenital syndactyly

    吴迪; 路来金; 宣昭鹏; 崔建礼; 孙希光; 贾晓燕


    目的 探讨先天性并指畸形的治疗体会,规范治疗方法,提高治愈率.方法 对我院近两年收治的30例先天性并指畸形患者,采用游离植皮及皮瓣等6种手术方法进行分指.以掌背侧顺行推进皮瓣、掌背侧逆行岛状皮瓣、五角推进皮瓣、局部“V-Y-W”推进皮瓣及菱形皮瓣重建指蹼;以“Z”形和全厚皮片修复指体.结果 本组24例总体治疗效果满意,其余6例行二次手术,其中植皮坏死3例,手指瘢痕屈曲挛缩2例,指蹼创面感染、继发瘢痕增生形成不全并指1例.结论 并指的手术时机应选择在出生后6个月~2年,并指的手术设计应注重指蹼的重建,重建的方法应首选掌背侧顺行或逆行皮瓣转移术;指体修复应选择全厚皮片,以预防手指的屈曲挛缩.%Objective To discuss the treatment experience of congenital symphysodactylia,standardize treatment method,improve the efficiency of treatment.Methods Summarize 30 cases with malformation congenital syndactyly in nearly 2 years in my hospital,used free skin graft and flap to separate the fingers in 6 kinds of surgical methods.By using the dorsal metacarpal anterograde advancing flap,palm dorsal retrograde island flap,the pentagon pushed flap,local V-Y-W promoting skin flap and rhomboid flap for reconstruction the web; with Z shape and skin repair the body finger.Results This group of 24 patients overall treatment effect was satisfactory.There were 6 cases for needing secondary surgery,skin graft necrosis in 3 cases,scar finger flexion contracture in 2 cases,the webbed wound infection,secondary to scar hyperplasia formation in 1 case.Conclusion The operation time of congenital should be chosen after the 6 months to 2 years,the operation should pay attention to the reconstruction of the web-fingered,reconstruction of surgical methods should be preferred palm dorsal anterograde and retrograde flap transfer operation,The repair of fingers should choose the piece

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

    Ana Guardiola


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

  1. High-resolution computerized tomography appearances of congenital malformations of the external and middle ear%先天性外中耳畸形的高分辨率CT表现

    刘广保; 聂玉霞; 谭子琨


    Objective To evaluate the value of clinical application of high-resolution computerized tomography (HRCT) in the diagnose of congenital malformations of the external and middle ear.Methods The imaging data of 40 congenital malformations of the external and middle ear patients with HRCT were collected and analyzed retrospectively.All the temporal bones were scanned with HRCT.All images were targeted using high-bone-detail algorithms.Results 13 cases of external ear abnormalities were found,including 1 case of accessory auricle,1 case of accessory with stenosis of external acoustic meatus,3 cases of stenosis of external acoustic meatus,5 cases of externai auditory canal bony atresia and 3 cases of external auditoer canal atresia film,8 cases of middle ear abnormalities,17 cases of external and middle ear malformation,2 cases of external,middle and inner ear malformation.Conclusion External ear malformation and middle ear malformation are usually unilateral,while enlargement of vestibular aqueduct is bilateral.Congenital atresia of external acoustic meatus is the most common type in the external ear malformation.HRCT can provide clear images of temporal bone and auditory ossicles,which help us diagnose the malformations of external ear,middle ear and osseous labyrinth.%目的 探讨不同类型的先天性外中耳畸形的高分辨率CT(HRCT)的诊断价值.方法 收集诊断为先天性外中耳畸形患者40例的影像学资料进行回顾性研究,所有患者均行HRCT扫描,骨算法成像.结果 在本研究的40例先天性外中耳畸形患者中,单纯外耳畸形13例,其中副耳1例,副耳合并外耳道狭窄1例,外耳道狭窄3例,外耳道骨性闭锁5例,外耳道膜性闭锁3例,单纯中耳畸形8例,外耳并中耳畸形17例,外耳、中耳及内耳混合畸形2例.结论 外耳畸形及中耳畸形单侧发病常见,外耳、中耳畸形常同时发生.外耳畸形中先天性外耳道闭锁常见,中耳畸形以听骨链异常常见.HRCT对

  2. Congenital tracheobiliary fistula.

    Croes, F.; Nieuwaal, N.H. van; Heijst, A.F.J. van; Enk, G.J. van


    Congenital tracheobiliary fistula is a rare malformation that can present with a variety of respiratory symptoms. We present a case of a newborn patient with a tracheobiliary fistula and severe respiratory insufficiency needing extracorporal membrane oxygenation to recover.

  3. Congenital malformations of the supratentorial brain. Pt. 2. Disorders of the corpus callosum and holoprosencephalies; Kongenitale Malformationen des Grosshirns. Teil 2: Entwicklungsstoerungen des Balkens und Holoprosenzephalien

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


    The corpus callosum is formed between the 7th and the 20th gestational week. If this process is disrupted, partial or complete callosal agenesis may ensue. As large parts of the supra- and infratentorial brain are created druing this critical period, associated anomalies need always to be searched for when callosal agenesis is present. Associations with neuro-genetic syndromes also exist. The corpus callosum is generally formed from front to back (''front-to-back rule''). Therefore, a partial callosal agenesis usually involves the posterior portion of the corpus callosum, while a secondary lesion of the corpus callosum does not follow this rule. Holoprosencephalies are a notable exception to this rule, as the frontal part of the corpus callosum is absent in spite of their classification as congenital malformations. They represent a disturbance of the differentiation and cleavage of the prosencephalon with a disruption of the separation of the cerebral hemispheres. Holoprosencephalies can be due to genetic causes, but also to intrauterine infections or other teratogenic causes. The holoprosencephalies are subdivided into alobar, semilobar and lobar holoprosencephalies. This article aims to describe the most important features of callosal agenesis and holoprosencephalies highlighting the respective imaging characteristics. (orig.) [German] Die Anlage des Balkens findet in der 7.-20. Woche nach Gestation statt. Stoerungen in dieser Entwicklungsphase koennen zu einer Balkenagenesie oder zu einer Balkenhypogenesie fuehren. Da in diesem Entwicklungsstadium grosse Anteile des Gross- und Kleinhirns angelegt werden, muss immer nach assoziierten Anlagestoerungen gesucht werden. Ebenso treten auch Kombinationen mit genetisch bedingten Syndromen auf. Die Entwicklung des Balkens folgt der sog. anterioren-posterioren Sequenz (''front-to-back rule''). Sekundaere Schaedigungen bei der Balkenentwicklung folgen dieser Regel nicht, und lassen

  4. CT manifestations of congenital cystic adenomatoid malformation of the lung%先天性肺囊性腺瘤样畸形的CT表现

    苏金亮; 周利民; 纪建松; 王祖飞; 赵中伟; 张文伟; 刘建平


    目的:探讨先天性肺囊性腺瘤样畸形的CT表现.方法:回顾性分析15例先天性肺囊性腺瘤样畸形的CT表现,并与手术、病理结果对照.结果:15例先天性肺囊性腺瘤样畸形CT表现为大囊型10例、小囊型5例.病理检查见囊腔为异常增生的管腔或腺样结构,壁内被覆假复层纤毛柱状上皮8例,纤毛柱状及立方上皮7例;囊周可见平滑肌及弹性纤维环绕,15例囊壁内均未见软骨成分及腺体.结论:CT检查是诊断先天性肺囊性腺瘤样畸形的可靠方法,根据CT表现可推测其病理分型.%Objective:To study the CT manifestations of congenital cystic adenomatoid malformation (CCAM) of the lung. Methods:CT findings in 15 patients with CCAM were retrospectively reviewed,and correlated with the surgical and pathological reaults. Results :CT manifestations of 15 cases with CCAM included large cystic type in 10 cases and small cystic type in 5 cases. The pathologic findings showed that the cyst was paraplasmic glandular or bronchiolar structures, cyst wall was lined with ciliated pseudostratified columnar epithelium in 8 cases and lined by cuboid to columnar epithelium in 7 cases. The cyst wall contained smooth muscle and elastic tissue. Cartilage plates were not present in all cases. Conclusion:CT is a reliable method in diagnosing CCAM. Based on imaging manifestations observed on CT, the pathologic type of CCAM might be predicted.

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

    Haugan, Birgitte M; Halberg, Kenneth Agerlin; Jespersen, Åse;


    whether the duct is involved in urine modification using larvae of the freshwater amphibian Ambystoma mexicanum (axolotl) as model. Results We investigated structural as well as physiological properties of the pronephric duct. The key elements of our methodology were: using histology, light...... duct system, which provides a model of cell structure and basic mechanisms for ion transport. Such information may be important in understanding the evolution of vertebrate kidney systems and human diseases associated with congenital malformations....

  6. 先天性消化道畸形影响因素的病例对照研究%Influential factors on congenital gastrointestinal malformation: a hospital-based case-control study

    姜雪锦; 许光; 申丽君; 吴静; 陈辉; 王友洁


    Objective To investigate the influential factors on congenital gastrointestinal malformation and to provide evidences for prevention.Methods A hospital-based case-control study was conducted among infants with or without congenital gastrointestinal malformation at Children's hospital of Hunan province,from April 2011 to August 2012.Parents of 120 cases with congenital gastrointestinal malformation and another 170 controls were asked to fill in a questionnaire.Data was analyzed using SPSS 18.0 software.Results Congenital gastrointestinal malformation was associated with intakes of maternal medication (OR=3.35,95%CI:1.51-7.41) and folic acid (OR=0.28,95%CI:0.15-0.52),exposure to paints (OR=5.05,95%CI:1.32-19.29) and pesticides (OR=15.20,95%CI:1.55-148.99) prior to or during pregnancy,and also associated with medication intake of the father (OR=3.70,95%CI:1.13-12.10),smoking (OR=2.39,95%CI:1.24-4.62),drinking alcohol (OR=2.47,95%CI:1.20-5.07),exposure to the agents for indoor cleaning (OR=16.42,95% CI:1.71-157.92) and exposure to paints (OR=9.92,95% CI:2.66-36.98) before conception.Conclusion Congenital gastrointestinal malformation was affected by multiple factors.Potential risk factors for congenital gastrointestinal malformation would include intakes of medication by the pregnant mother,exposure to paints exposure and pesticide exposure before or during pregnancy,and medication intake by the father,smoking,drinking alcohol,exposure to indoor cleaning agents/paint before conception.The amount of folic acid intake by mother before or during pregnancy was likely to reduce the risk for congenital gastrointestinal malformation.%目的 探讨先天性消化道畸形发病的影响因素,为预防先天性消化道畸形发病提供参考.方法 采用以医院为基础的病例对照研究方法,对2011年4月至2012年8月在湖南省儿童医院住院的120例先天性消化道畸形患儿及同期同科室住院的170例非先天性消化道畸形

  7. Congenitally corrected transposition

    Debich-Spicer Diane


    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

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

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


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

  9. 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

    Cláudia Maria da Silva Costa


    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

  10. Grynfelt lumbar hernias. Presentation of a congenital case.

    Cleopatra Cabrera Cuellar


    Full Text Available Lumbar hernias are uncommon and are reported rarely, they are informed only few more than 300 in literature and of them only 10 cases are congenital. The hernias that are produced through the superior lumbar space or Grynfelt-Lesshalf´s hernia, are due to the fact that they are more constant and larger they are usually more frequent than the Petit triangle. We are reporting a Newborn infant with the diagnosis of bilateral lumbar hernias and malformation of the vertebral column.

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

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


    Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development. (orig.) [German] Entwicklungsstoerungen des Kortex werden in der Regel eingeteilt in Stoerungen der zellulaeren Proliferation und Apoptose, der neuronalen Migration und der kortikalen Organisation. Basierend auf neueren molekularbiologischen und histopathologischen Erkenntnissen wurde vor kurzem eine modifizierte Klassifikation eingefuehrt. Zu den Stoerungen der neuronalen und glialen Proliferation und Apoptose werden nun die Mikrolissenzephalie und andere Formen der Mikrozephalie, die Megalenzephalien, die kortikalen Hamartome der tuberoesen Sklerose, die kortikalen Dysplasien mit Ballonzellen und die Hemimegalenzephalie gezaehlt. Zu den neuronalen Migrationsstoerungen rechnet man das Spektrum der Lissenzephalien, einschliesslich der bandfoermigen Heterotopien, die Pflastersteinlissenzephalien sowie die Gruppe der Heterotopien. Unter Organisationsstoerungen des Kortex subsumiert man den Komplex

  12. The expression and significance of TGF-β1 in congenital cystic adenomatoid malformation of the lung%先天性肺囊性腺瘤样畸形中TGF-β1的表达及意义

    王利群; 蔡凤梅; 周玲玲; 王宗敏; 王卉芳; 王亚楼


    目的:探讨转化生长因子-β1(transforming growth factor beta 1,TGF-β1)在儿童先天性肺囊性腺瘤样畸形(congenitalcystic adenomatoid malformation of lung,CCAM)中的表达及意义.方法:选择6月~15岁的儿童CCAM手术存档蜡块标本52例为病例组,同时以不同时期(12~39周)人胚胎肺组织15例和正常儿童(2月~15岁)肺组织9例作为对照组,用免疫组织化学EliVision法检测TGF-β1蛋白的表达,用原位杂交方法检测TGF-β1 mRNA的表达.结果:TGF-β1蛋白主要表达在上皮和间质细胞的细胞浆中,而TGF-β1 mRNA主要表达于支气管周围平滑肌、囊壁平滑肌及血管平滑肌中,上皮细胞未见表达.与对照组相比,TGF-β1蛋白和mRNA在CCAM病例组中的表达均明显增强,差异具有统计学意义(P<0.05或P<0.01); CCAM Ⅰ、Ⅱ、Ⅲ型之间两两比较,TGF-β1蛋白和mRNA的表达差异均无统计学意义(P>0.05).结论:TGF-β1在正常胚胎肺及儿童肺组织中表达较弱,而在CCAM中表达明显增强,提示TGF-β1的过表达参与CCAM的发生发展过程,可以作为进一步研究的目标.%OBJECTIVE: To investigate the expression of TGF-13 1 in congenital cystic adenomatoid malformation of the lung(CCAM) and its role in the formation of CCAM. METHODS: The diseased group included 52 cases of congenital cystoadenomatoid malformation of lung (6 m-15 y), 9 cases of normal lungs (2 m-15 y)and 15 fetal lungs at varying gestational ages (12-39 w) as the control group. Immunohistochemical staining (EliVision) was used to detect the proteins of TGF- β 1, hybridization in situ to detect the mRNA of TGF-β 1 in every tissue of CCAM, normal pediatric lungs and fetal lungs. RESULTS: The protein of TGF- β 1 was mainly expressed in celluar cytoplasm of pulmonary epithelial cells and mesenchymal cells. The expression of TGF-β 1 mRNA located in cytoplasm of smooth muscle cells surrounding the bronchus and cysts. The expression level of TGF- β 1 and TGF- (3

  13. Clinical Congenital Middle Ear Malformation and Its Relationship with Hearing Loss%先天性中耳畸形的临床分型及其与耳聋的相关性研究



    目的:探讨先天性中耳畸形的临床分型及其与耳聋的相关性。方法将我院入院治疗的42例(62耳)先天性中耳畸形患者纳入本研究,对本组患者均进行详细的手术检查,分析患者中耳畸形状态。结果经过记性检查,可能有听骨链畸形表现,还有面神经骨管暴露与面神经异常的表现。本组听力学检查结果显示本组患者主要为锤砧骨畸形(31例),11例未蜗窗畸形与前庭窗畸形,11例患者畸形程度相对复杂,伴随走形异常与面神经结构异常。结论先天性中耳畸形根据其组织的来源,可以分为不同的类型,在临床研究中需要分析高频与听阈问题,结合CT检查结果与骨导变化结果进行分析,这能够为合理手术提供合理的临床依据,提升治疗的安全性。%Objective To investigate the correlation between the clinical classification of congenital malformation of the middle ear and hearing loss.Methods In our hospital, 42 cases of hospitalized patients (62 ears) were included in the study of patients with congenital malformation of the middle ear, for this group of patients were examined with the operation, analysis of patients with middle ear malformation state.Results after a check, there may be the ossicular chain deformity, and facial nerve canal and facial nerve exposed to abnormal performance. Results Showed that the group of audiological examination were mainly for the hammer incus deformity (31 cases), 11 cases without cochlear window deformity and vestibular window deformity, 11 cases of patients with deformity complicated with abnormal shape, facial nerve and abnormal structure.Conclusion Congenital middle ear malformation according to the source of its organization, can be divided into different types, in clinical research needs analysis of high frequency and threshold problem, combined with the results of CT and bone changes were analyzed, which can provide the basis for

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



    Full Text Available La malformación congénita de la vía aérea pulmonar (MCVAP, llamada también malformación congénita adenomatoidea quística que compromete al pulmón es una anomalía embrionaria. La MCVAP es de rara presentación en la infancia y es excepcional en los adultos. En este artículo comunicamos el caso de un hombre adulto con MCVAP y presentamos una breve revisión sobre esta condición. Caso clínico: Hombre de 23 años de edad con varios episodios de neumonía y de síndrome bronquial obstructivo en su niñez. El paciente se quejaba de dolor torácico pleurítico, malestar general y fiebre. En el examen físico se encontró disminución del murmullo pulmonar en la parte inferior del hemitórax derecho, abundantes crepitaciones y matidez. La radiografía y la tomografia computada de tórax (TC revelaron múltiples imágenes hidro-aéreas complejas en el pulmón derecho. Debido a la falta de respuesta al tratamiento médico, se practicó una lobectomía inferior derecha. La histopatología demostró una MCVAP tipo 1. Después de ser dado de alta el paciente presentó una fístula broncopleural, la cual fue tratada exitosamente con una segunda intervención quirúrgica. Tres años después de la cirugía el paciente está asintomático. Discusión: La MCVAP es una malformación congénita hamartomatosa muy poco frecuente. En adultos es excepcional. La técnica diagnóstica de elección es la TC de tórax. Considerando el alto potencial neoplásico de esta malformación, su tratamiento debe ser la resección quirúrgica, incluso si el paciente está asintomático.Congenital pulmonary airway malformation or CPAM (congenital cystic adenomatoid malformation that involve the lung is an embryonic anomaly. CPAM is a rare condition in chilhood, and even more so in adulthood. In this article we report the case of a young adult man with CPAM and present a brief review about this condition. Case study: 23 years old man with several episodes of pneumonia

  15. 先天性主动脉缩窄合并心血管发育畸形的综合影像学诊断%Imaging diagnosis of congenital aortic coarctation accompanied with cardiovascular malformation

    赵宏亮; 宦怡; 郑敏文; 魏梦绮


    Objective To evaluate the value of dual-source CT(DSCT) , thransthoracic echocardiography (TTE) , magnetic resonance imaging(MRI) ,and angiocardiogarphy(ACG) in diagnosing congenital aortic coarctation.Methods All 60 patients with congenital aortic coarctation confirmed by operation underwent DSCT and TTE, 17 and 7 of 60 patients underwent ACG and MRI simultaneously, respectively.The imaging appearances of congenital aortic coarctation at imaging examinations were analyzed retrospectively.Results In comparison with the results of operation, the accurate rates in revealing coarctation of were 100% by DSCT and ACG, 4 6.6% by TTE and 57% by MRI, while aortic arch in revealing accompanied cardiovascular malformation were 89.6% and 85.9% respectively by DSCT and TTE, 100% by MRI and ACG.The accurate rate in diagnosing cardiac ventricular malformation by TTE was obviously high than DSCT,but in diagnosing extra-cardiac great vascular malformation was lower by TTE than DSCT and ACG.Conclusion Because the sensitivity of TTE combined with DSCT in diagnosing congenital aortic coarctation is 100% , it will be a po tential means to replace ACG.%目的 对比评价双源CT(DSCT)、经胸超声心动图(TTE)、磁共振成像(MRI)及心血管造影(ACG)检查在诊断先天性主动脉缩窄的价值.方法 经手术证实60例患有先天主动脉缩窄的患者,术前均做过DSCT、TTE检查,其中17例做过选择性造影检查,7例做过MRI检查,回顾性分析归纳其影像学特点.结果 DSCT及ACG显示弓部缩窄手术符合率为100%,TTE手术符合率仅为46.6%,MRI手术符合率为57%,DSCT诊断的手术符合率等同于ACG.合并畸形DSCT诊断的手术符合率为89.6%,TTE诊断的手术符合率为85.9%,MRI诊断手术符合率为100%,ACG诊断的手术符合率为100%.TTE诊断心室内畸形手术符合率明显高于DSCT检查,诊断心外大血管畸形手术符合率低于DSCT及ACG.结论 在主动脉缩窄及合并心室内畸形诊断上,TTE检查

  16. Skeletal malformations in fetuses with Meckel syndrome

    Kjaer, K W; Fischer Hansen, B; Keeling, J W;


    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...

  17. Brain Malformations

    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. Parts of the brain may be missing, ...

  18. Anorectal malformations in neonates

    Bilal Mirza


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

  19. Arteriovenous Malformation of the Pancreas

    Alexandros Charalabopoulos


    Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

  20. Surgical treatment of congenital thoracolumbar spondyloptosis in a 2-year-old child with vertebral column resection and posterior-only circumferential reconstruction of the spine column: case report.

    Gressot, Loyola V; Mata, Javier A; Luerssen, Thomas G; Jea, Andrew


    Spondyloptosis refers to complete dislocation of a vertebral body onto another. The L5-S1 level is frequently affected. As this condition is rare, few published reports describing its clinical features and surgical outcomes exist, especially in the pediatric patient population. The authors report the presentation, pathological findings, and radiographic studies of a 2-year-old girl who presented to Texas Children's Hospital with a history since birth of progressive spastic paraparesis. Preoperative CT and MRI showed severe spinal cord compression associated with T11-12 spondyloptosis. The patient underwent a single-stage posterior approach for complete resection of the dysplastic vertebral bodies at the apex of the spinal deformity with reconstruction and stabilization of the vertebral column using a titanium expandable cage and pedicle screws. At the 12-month follow-up, the patient remained neurologically stable without any radiographic evidence of instrumentation failure or loss of alignment. To the best of the authors' knowledge, there have been only 2 other children with congenital thoracolumbar spondyloptosis treated with the above-described strategy. The authors describe their case and review the literature to discuss the aggregate clinical features, surgical strategies, and operative outcomes for congenital thoracolumbar spondyloptosis.

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

    Amauri Batista da Silva


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

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

    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)


    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

  3. Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract

    U. D. Shrestha


    Full Text Available Craniofacial microsomia (CFM includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS. Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract. The peculiarity of this case is the presence of the bilateral total congenital cataract, in association with CFM. There is absence of epibulbar dermoid or lipodermoid in the eyes, although the child had features of GHS. In addition to it, anesthetic intubation was smooth in this case. Any case diagnosed with CFM and/or GHS needs treatment through multidisciplinary approach, consultation in ophthalmology department is one of them.

  4. Transvaginal Three-dimensional Ultrasound Uterine Angiography in the Diagnosis of Congenital Uterine Malformation%经阴道三维超声宫腔造影对先天性子宫畸形的诊断价值

    张忠德; 赖胜坤


    目的::对经阴道三维超声宫腔造影对先天性子宫畸形的诊断价值进行评价分析,为收治的疑似子宫畸形患者39例,进行宫腔内生理盐水灌注后行经阴道三维超声宫腔造影检查,为临床诊断工作提供有价值的参考信息。方法:选择2013年1月~2015年6月间某院收治的疑似子宫畸形患者39例,对其展开宫腔内生理盐水灌注后行经阴道三维超声宫腔造影检查,并以宫腔镜、腹腔镜检查结果为依据进行对照分析。结果:本组患者有7例患者确诊为完全纵膈子宫,有21例患者确诊为不完全纵膈子宫,9例患者确诊为双角子宫,2例患者确诊为单角子宫,经三维超声宫腔造影检对阴道查子宫畸形诊断的准确率为100%。结论:经阴道三维超声宫腔造影检查可准确判断子宫畸形及其类型,操作简单易行,临床价值显著值得关注并推广使用。%Objective:To analyze and evaluate transvaginal three-dimensional ultrasound uterine angiog-raphy in the diagnosis of congenital uterine malformation.Receive 39 patients with suspected uterine malfor-mation and then treat them with uterine cavity imaging of transvaginal three-dimensional ultrasound after imbuing with normal saline,aiming to offer to offer valuable reference for clinical diagnosis.Methods:Select 39 patients with suspected uterine malformation treated in a hospital from January 2013 to June 2015 and then treat them with uterine cavity imaging of transvaginal three-dimensional ultrasound after imbuing with normal saline.finally compare the resulats checked by hysteroscopy and laparoscopy.Results:Among the pa-tients,7 were diagnosed mediastinum uterus completely,21 patients diagnosed with incomplete mediastinum uterus,9 cases diagnosed with double angle of uterus,2 patients diagnosed with single angle uterus.Uterine cavity imaging by three-dimensional ultrasound screening for vaginal uterine malformation diagnostic accura-cy was 100

  5. Clinical value of echocardiography in diagnosing of congenital cardiovascular malformation fetus%超声心动图诊断胎儿先天性心血管畸形的临床价值



    目的:研究使用超声心动图对于诊断胎儿先天性心血管畸形的重要意义,总结概括出现误诊以及漏诊的原因,提高诊断准确率。方法本院通过对10981例进行产前胎儿超声心动图检查的孕妇研究总结,通过对产前超声诊断结果与孕妇产后的超声心动图诊断以及被认为是畸形胎儿的尸体解剖结果进行比对,确定超声心动图诊断的价值。结果2981例孕妇中有107例(3.60%)胎儿检出先天性心血管异常。在这107例胎儿中,单纯性三尖瓣反流胎儿有77例(72.57%),心腔内强回声光斑胎儿9例(8.73%),左室假腱索胎儿6例(5.60%),结构性心血管异常胎儿11例(10.28%),单纯性肺动脉瓣反流胎儿2例(1.87%),其中有11例孕妇选择引产。结论胎儿超声心动图是一种有效的胎儿先天性心脏病产前检查方法,有利于降低先天性心脏病患儿的出生率。%Objective To study significance of echocardiography in diagnosing congenital cardiovascular malformation fetus and sum up the reasons of misdiagnosis and missed diagnosis to improve the diagnostic accuracy. Methods There were 2981 cases of pregnant women for prenatal fetal echocardiography in our hospital for research summary, through to the prenatal ultrasound diagnosis of pregnant women with postpartum echocardiography diagnosis and is considered to be one of the malformation fetus compare the autopsy results, determine the value of echocardiography in the diagnosis. Results Out of 2981 cases of pregnant women, 107 patients (3.60%) of fetal congenital cardiovascular anomaly detection. In the 398 cases of fetus, simple tricuspid regurgitation in 77 patients (72.57%), fetal heart cavity the strong echo light fetal 9cases (8.73%), left ventricular false chordae tendineae6 cases (5.60%), fetal structural cardiovascular abnormalities fetus 11 cases (10.28%), idiopathic pulmonary valve regurgitation in fetal 2 cases (1.87%), including 11 cases of

  6. 北京地区荷斯坦牛脊椎畸形综合征的调查研究%Investigation on Complex Vertebral Malformation (CVM) in Holstein Cattle of Beijing

    李艳华; 乔绿; 张胜利; 郑维韬; 吕小青; 朱玉林; 薛建华; 孙凤俊


    Complex Vertebral Malformation(CVM) is an autosomal recessive disease caused by G→T mutation in the SLC35A3 gene. The recessive homozygous form(CV/CV) is lethal and since cartier animals have viability, CVM frequency can be increased by use of carrier bulls in Artificial Insemination(AI). In this study, DNA samples from Holstein bulls(n=242)and cows(n=403)in Beijing district were detected by PCR-SSCP. The results showed that CVM-carrier rates in Holstein bulls and cows were 8.82% and 5.71%,and their gene frequencies were 4.41% and 2.85%, respectively. Our pedigree studies of the carrier cattle in this experiment revealed that the mutation was inherited to him from Penstate lvanhoe Star bull(USA. 1441440, CV). Although the elimination of CVMcarrier bulls from the Holstein world would be the most efficient method to control this genetic disorder, many CVM-carrier bulls were still listed commercially for Al in China. Monitoring the prevalence of CVM-carriers in random selected herds may be helpful in judging the effectiveness of the CVM-control program.%脊椎畸形综合征(Complex Vertebral Malformation,CVM)是由常染色体上SLC35A3基因单碱基突变(G→T)引起的隐性遗传疾病,该基因隐性纯合(CV/CV)时奶牛致死,但CVM携带者表现正常,所以CVM携带者公牛可以通过人工授精技术传播CVM缺陷基因.本研究利用PCR-SSCP方法对北京地区242头公牛样品和403头母牛样品进行了检测分析,研究结果表明,在所检测的样本中,荷斯坦种公牛和母牛CVM携带率分别为8.82%和5.71%,CVM基因频率分别为4.41%和2.85%.通过系谱追踪发现,CVM遗传缺陷的共同祖先是美国名牛"Penstate Ivanhoe Star"(USA.1441440,CV).通过剔除CVM携带者公牛可以有效地控制CVM遗传缺陷的传播,但是,我国许多CVM携带者公牛冻精依然在商业化使用,所以有效地监控CVM携带者在奶牛群中的状况对CVM防控计划是有益的.

  7. Establishment and Application of Molecular Diagnosis of Complex Vertebral Malformation (CVM)in Holstein%荷斯坦牛脊椎畸形综合征分子诊断方法的建立与应用

    李艳华; 张胜利; 赵兴波; 李宁


    脊椎畸形综合征(Complex Vertebral Malformation, CVM)是由常染色体上SLC35A3基因单碱基突变(G→T)引起的隐性遗传疾病,该基因隐性纯合(CV/CV)时奶牛致死,但CVM携带者表现正常,所以CVM携带者公牛可以通过人工授精技术传播CVM缺陷基因.本研究自行设计检测CVM特异性PCR引物,扩增长度为173bp,然后利用PCR-SSCP方法对186个公牛样品和140个母牛样品进行了检测分析,该方法简便快捷、准确率高.使用样品宽泛,适合大样本筛选.研究结果表明,在所检测的样本中,荷斯坦种公牛和母牛CVM携带率分别为11.3%和12.1%,并通过系谱追踪发现,CVM遗传缺陷的共同祖先是美国名牛"Penstate Ivanhoe Star"(USA.1441440,CV).通过剔除CVM携带者公牛可以有效地控制CVM遗传缺陷,但是,我国许多CVM携带者公牛冻精依然在商业化使用,所以,有效地监控CVM携带者在奶牛群中的状况对CVM防控计划是有益的.

  8. 女性生殖管道发育异常225例临床分析%Clinical analysis of 225 women with congenital uterine malformation

    王世军; Mandakini Oli; 蒋励; 王建六; 魏丽惠


    目的 探讨子宫发育异常的发病情况、临床特征、诊治方法及其对生育的影响.方法 选取1990年3月-2005年1月北京大学人民医院收治的子宫发育异常患者225例的临床资料,进行回顾性分析,总结不同类型子宫发育异常的构成比、临床特征、诊治方法及对生育的影响.结果 (1)225例子宫发育异常患者中,中隔子宫125例,占55.6%,其中122例(97.6%,122/125)患者妊娠,但影响其妊娠结局,出现流产、胎位异常、早产、前置胎盘、胎膜早破等并发症.(2)双子宫51例,占22.7%(51/225);其中50例(98%,50/51)患者妊娠,对妊娠无明显影响;5例(10%,5/51)合并泌尿系统畸形.(3)残角子宫26例(11.6%,26/225),发生残角子宫妊娠4例(15%,4/26),残角子宫同侧输卵管妊娠1例(4%,1/26);2例(8%,2/26)合并泌尿系统畸形;合并不孕4例(15%,4/26).(4)双角子宫14例,占6.2%(14/225),无不孕患者,出现早产、胎膜早破等并发症;1例(7%,1/14)合并泌尿系统畸形.(5)其他类型:鞍状子宫4例(1.8%,4/225),无不孕患者;无子宫3例(1.3%,3/225),均以原发闭经就诊;单角子宫2例(0.9%,2/225),均合并不孕.结论 子宫发育异常中以中隔子宫最多见.中隔子宫、双子宫、双角子官、残角子宫、鞍状子宫对生育无明显影响,但在妊娠期可出现不同的并发症.子宫发育异常常合并泌尿系统畸形.无症状的子宫发育异常,可不予处理.%Objective To investigate the prevalence, clinical features, diagnosis, treatment and the influence on procreation of uterine malformation. Methods Totally 225 women with uterine malformation referred to our hospital from Mar 1990 to Jan 2005 were involved in this retrospective analysis.The constituent ratio, clinical feature, diagnosis, treatment and the influence on procreation were analyzed.Results (1) Among 225 cases of uterine malformation, 125 cases (55.6%) were septate uterus; 122(97.6%, 122/125 ) of these patients became pregnant, but

  9. [Congenital lumbar hernia and bilateral renal agenesis].

    Barrero Candau, R; Garrido Morales, M


    We report a new case of congenital lumbar hernia. This is first case reported of congenital lumbar hernia and bilateral renal agenesis. We review literature and describe associated malformations reported that would be role out in every case of congenital lumbar hernia.

  10. Schinzel-Giedion syndrome and congenital megacalyces.

    Herman, T E; Sweetser, D A; McAlister, W H; Dowton, S B


    The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome.

  11. Rare anorectal malformation with a non-terminal colovesical fistula


    We describe a unique case of anorectal malformation (ARM) with a non-terminal colovesical fistula. While some aspects are similar to the congenital pouch colon (CPC), the differences make it a distinct form.

  12. Rare anorectal malformation with a non-terminal colovesical fistula

    Sabine Vasseur Maurer


    Full Text Available We describe a unique case of anorectal malformation (ARM with a non-terminal colovesical fistula. While some aspects are similar to the congenital pouch colon (CPC, the differences make it a distinct form.

  13. NPHP4 variants are associated with pleiotropic heart malformations.

    French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.


    RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic m

  14. NPHP4 variants are associated with pleiotropic heart malformations

    V.M. French (Vanessa); I.M.B.H. van de Laar (Ingrid); M.W. Wessels (Marja); C.F. Rohe; J.W. Roos-Hesselink (Jolien); G. Wang (Guangliang); I.M.E. Frohn-Mulder (Ingrid); E.A.W.F.M. Severijnen (Lies-Anne); B.M. de Graaf (Bianca); R. Schot (Rachel); G.J. Breedveld (Guido); E.J. Mientjes (Edwin); M. van Tienhoven (Marianne); E. Jadot (Elodie); Z. Jiang (Zhengxin); A. Verkerk; S.M.A. Swagemakers (Sigrid); H. Venselaar (Hanka); Z. Rahimi (Zohreh); H. Najmabadi (Hossein); E.J. Meijers-Heijboer (Hanne); E. de Graaff (Esther); W.A. Helbing (Willem); R. Willemsen (Rob); K. Devriendt (Koenraad); J.W. Belmont (John); B.A. Oostra (Ben); J.D. Amack (Jeffrey); A.M. Bertoli Avella (Aida)


    textabstractRationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective: To identi

  15. [The progress of inner ear malformation in radiological research].

    Kong, Dehua; Fu, Kuang; Zhao, Hui


    Inner ear malformations are anomalies linking to development insults at different periods of embryogenesis,which are common causes of congenital sensorineural hearing loss. The evaluation of pediatric sensorineural hearing loss mostly depends on high-resolution computed tomography and magnetic resonance imaging, which can excellently depict the temporal bones and inner ear malformations.

  16. Otosclerosis associated with type B-1 inner ear malformation

    De Stefano, A.; DISPENZA, F.; Aggarwal, N.; Russo, A.


    Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossi...

  17. Operative strategy of congenital atlantoaxial dislocation-induced Chiari malformation and (or)syringomyelia%先天性寰枢椎脱位导致Chiari畸形和(或)脊髓空洞的手术策略

    段光明; 周定标; 余新光


    Objective To study the operative strategy of congenital atlantoaxial dislocation(CAAD)-induced Chiari malformation and (or) syringomyelia. Methods The operation in reported 23cases of CAAD-induced Chiari malformation and (or) syringomyelia was composed with the transoral resection of odontoid process to achieve anterior decompression at first stage and occipito-cervical bone grafting fusion at second stage. Results MRI examination revealed the tonsils ascent and (or) syrinx reduction in 19 cases after first-stage operation. Compared with their preoperative manifestations, 14cases were obviously improved and 5 improved to some extent after operation, while 4 were unchanged. Conclusions CAAD is the main cause of tonsils descent and (or) syringomyelia in the series of patients. After anterior decompression by transoral resection of odontoid process, most patients will get recovered in tonsils descent and (or) syringomyelia reduction. The main aim of posterior operation is to reconstruct the stability of craniovertebral junction.%目的 探讨先天性寰枢椎脱位(CAAD)导致Chiari畸形和(或)脊髓空洞的手术策略.方法 收集我科23例CAAD导致Chiari畸形和f或1脊髓空洞患者的手术情况.一期经口齿状突切除前路减压,二期主要行后路枕颈植骨融合术. 结果 一期手术后复查MRI,小脑扁桃体下疝还纳、脊髓空洞缩小19例,无变化4例.术后临床表现明显改善14例,改善5例,无变化4例. 结论 在该类患者中,CAAD是造成小脑扁桃体下疝和(或)脊髓空洞的主要原因.单纯经口齿状突切除前路减压,多可使扁桃体下疝还纳,空洞缩小.后路手术的主要目的是重建颅颈交界处的稳定.

  18. A rare association of rectal and genitourinary duplication and anorectal malformation

    王俊; 施诚仁; 余世耀; 吴燕; 徐长辉


    @@ It is very rare to see multiple malformations occurring in both the urogenital and digestive systems in a case of congenital anorectal malformation. In this particular care, an imperforated anus occurred with other multiple malformations, including a double kidney, urethral duplication and rectal duplication, etc.

  19. 感音神经性聋患儿中先天性内耳畸形的构成、影像学及临床听力学特征%Constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss

    李幼瑾; 杨军; 李蕴


    目的:分析婴幼儿、儿童先天性感音神经性聋(SNHL)中先天性内耳畸形的构成、影像学及临床听力学特征.方法:回顾性分析2005-02-2010-01上海交通大学医学院附属上海儿童医学中心耳鼻咽喉科诊治的860例先天性SNHL患儿中,经颞骨高分辨率CT及MRI发现有先天性内耳畸形的125例(225耳)患儿的听力学及影像学资料.结果:860例先天性SNHL患儿中有先天性内耳畸形者占14.5%;累及双侧98例(78.4%),单侧27例(21.6%).225耳中167耳(74.2%)为极重度聋,36耳(16%)为重度聋,22耳(9.8%)为中度聋.该组内耳畸形中,前庭水管扩大最多见(75.6%),其次为前庭畸形(32%),再次为耳蜗前庭畸形(23.1%).耳蜗前庭畸形中以Mondini畸形最常见(55.8%),其次为共同腔畸形(28.9%).累及耳蜗的内耳畸形中极重度聋者明显多于未累及耳蜗的内耳畸形中极重度聋者.结论:对了解中国婴幼儿、儿童先天性SNHL中先天性内耳畸形的构成,对先天性SNHL的病因诊断以及对包括助听器、耳蜗植入等在内的干预策略的制订及其预后有一定意义.%Objective:To analyze the constitute, imaging and auditory characteristics of pediatric patients with congenital malformations of inner ear in sensorineural hearing loss(SNHL). Method.. Imaging and auditory data of 125 cases(225 ears) in 860 pediatric patients with congenital SNHL who referred to ENT department of Shanghai Children Medical Center from February 2005 to January 2010 were retrospectively studied. Result:Congenital malformations of inner ear accounted for 14.5 % in 860 pediatric patients with congenital SNHL. Bilateral ear was involved in 98 cases(78. 4%), unilateral in 27cases(21.6%). One hundred and sixty-seven ears (74. 2%) were identified as profound deafness, 36 ears (16%) severe deafness and 22 ears (9.8%) moderate deafness in 225 ears,respectively. In present group, large vestibular aqueduct (75.6 %) was the most common and next

  20. Vitamin A deficiency induces congenital spinal deformities in rats.

    Zheng Li

    Full Text Available Most cases of congenital spinal deformities were sporadic and without strong evidence of heritability. The etiology of congenital spinal deformities is still elusive and assumed to be multi-factorial. The current study seeks to elucidate the effect of maternal vitamin A deficiency and the production of congenital spinal deformities in the offsping. Thirty two female rats were randomized into two groups: control group, which was fed a normal diet; vitamin A deficient group, which were given vitamin A-deficient diet from at least 2 weeks before mating till delivery. Three random neonatal rats from each group were killed the next day of parturition. Female rats were fed an AIN-93G diet sufficient in vitamin A to feed the rest of neonates for two weeks until euthanasia. Serum levels of vitamin A were assessed in the adult and filial rats. Anteroposterior (AP spine radiographs were obtained at week 2 after delivery to evaluate the presence of the skeletal abnormalities especially of spinal deformities. Liver and vertebral body expression of retinaldehyde dehydrogenase (RALDHs and RARs mRNA was assessed by reverse transcription-real time PCR. VAD neonates displayed many skeletal malformations in the cervical, thoracic, the pelvic and sacral and limbs regions. The incidence of congenital scoliosis was 13.79% (8/58 in the filial rats of vitamin A deficiency group and 0% in the control group. Furthermore, vitamin A deficiency negatively regulate the liver and verterbral body mRNA levels of RALDH1, RALDH2, RALDH3, RAR-α, RAR-β and RAR-γ. Vitamin A deficiency in pregnancy may induce congenital spinal deformities in the postnatal rats. The decreases of RALDHs and RARs mRNA expression induced by vitamin A deprivation suggest that vertebral birth defects may be caused by a defect in RA signaling pathway during somitogenesis.

  1. Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio


    We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts.

  2. 2010年至2013年新泰市新生儿先天畸形发生率及危险因素分析%The incidence rate of congenital malformations in Xintai City from 2010 to 2013 and their risk factors

    杨平; 陈晓云; 张明


    Objective To analyze the incidence rate of congenital malformations in Xintai City from January 2010 to December 2013,and to investigate the risk factors for neonatal malformations. Methods A total of 21 463 ca-ses of perinatal infants pregnant for 28 weeks later to postpartum 7 d in Xintai city from January 2010 to December 2013 were retrospectively analyzed. The congenital malformations detection data were analyzed. The risk factors were analyzed by univariate and Logistic analysis methods. Results There were 281 cases with congenital malformations were identi-fied out,and the congenital malformation rate was 1. 31%(281 / 21 463 cases). The incidence rates of multi - finger (toe)[0. 24%(52 / 21 463 cases)],cleft lip[0. 23%(49 / 21 463 cases)],and congenital heart disease[0. 22%(47 /21 463 cases)]were the main congenital malformations. Total malformation rates in the year of 2010,2011,2012,and 2013 were similar(1. 26% ,1. 25% ,1. 33% ,1. 26% ,Z = - 1. 826,P = 0. 068). Univariate and Logistic regression analysis results showed that birth weight,parity,births number,gestational age,educational level,residence,income,ill-ness history,exposure to pesticides,hepatitis,influenza,severe vomiting of pregnancy,threatened abortion,threatened premature,contraceptives,smoking history,drinking history,and father's chronic disease were the risk factors for neo-natal congenital malformations( χ2 = 10. 212,4. 299,5. 860,5. 278,10. 422,9. 327,15. 680,127. 395,245. 735, 74. 141,718. 876,96. 414,77. 770,11. 300,9. 126,74. 927,68. 283,5. 450,P = 0. 001,0. 038,0. 015,0. 022, 0. 001,0. 002,0. 000,0. 000,0. 000,0. 000,0. 000,0. 000,0. 001,0. 001,0. 003,0. 000,0. 000,0. 020 ). Conclusions Neonatal congenital malformation is mainly determined by genetic and environmental factors. For childbearing age and pregnant women,targeted health education should be strengthened to reduce the incidence rate of congenital malformations.%目的:分析新泰市2010年1月至2013年12月新生儿先

  3. Clinical analysis of relationship between urinary tract infection and congenital malformalities of urinary tract in children%小儿泌尿系统感染与先天性泌尿系统畸形关系的临床分析

    郑方芳; 刘晓红; 莫樱; 蒋小云; 宋洁; 周传新


    Objective To analyze the relationship between urinary tract infection (UTI)and congenital malformalities of urinary tract in children.Methods From January 2003 to December 2014,a total of 295 children with UTI in the First and the Fifth Affiliated Hospital of Sun Yat-sen University were included in the study.They were divided into malformalities group (n = 85,with congenital malformalities of urinary tract)and non-malformation group (n = 210,without congenital malformalities)according to their imageological examination results.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of First Affiliated Hospital of Sun Yat-sen University and Fifth Affiliated Hospital of Sun Yat-sen University.Informed consent was obtained from each participant′ parents.The clinical features were compared between two groups,including gender,age,fever,white blood cell count,erythrocyte sedimentation rate,frequency of infection, abnormal renal function and combination with other congenital malformalities. There were no significant differences between two groups in UTI severity and hospital stay (P >0.05). Results There were significant differences in gender,age≤30 days,frequency of infection (more than twice)and combination with other congenital malformalities(χ2 = 10.678,4.466,6.745,3.466;P 0.05)。结果两组 UTI 患儿在性别、发病年龄≤30 d、感染次数≥2次、合并其他先天性畸形方面比较,差异均有统计学意义(χ2=10.678、4.466、6.745、3.466,P <0.05)。畸形组患儿先天性泌尿系统畸形类型以膀胱输尿管返流为主(18.8%),其次为先天性肾积水(15.3%)和输尿管狭窄(11.8%)等。随访53例患儿中,10例(18.9%)接受手术治疗,其中,仅1例(1.89%)输尿管狭窄患儿于术后6个月复发 UTI。结论小儿UTI 与先天性泌尿系统畸形密切相关,反复 UTI、合并其他先天性畸形、发病年龄≤30 d的男性 UTI 患儿罹患先天性泌尿系统畸形的可能性较高。

  4. Eye malformations in Cameroonian children: a clinical survey

    Eballé AO


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

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

    Dinaldo de Lima Leite


    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.

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

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


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

  7. [Central nervous system malformations: neurosurgery correlates].

    Jiménez-León, Juan C; Betancourt-Fursow, Yaline M; Jiménez-Betancourt, Cristina S


    Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration, lissencephaly, pachygyria, schizencephaly, agenesis of the corpus callosum, heterotopia and cortical dysplasia, spinal malformations and spinal dysraphism. We expose the classification of different central nervous system malformations that can be corrected by surgery in the shortest possible time and involving genesis mechanisms of these injuries getting better studied from neurogenic and neuroembryological fields, this involves connecting innovative knowledge areas where alteration mechanisms in dorsal induction (neural tube) and ventral induction (telencephalization) with the current way of correction, as well as the anomalies of cell proliferation and differentiation of neuronal migration and finally the complex malformations affecting the posterior fossa and current possibilities of correcting them.

  8. Human malformations induced by environmental noxae

    Hecker, W.C.; Angerpointner, T.A.


    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.

  9. Dandy-Walker Malformation Presenting with Psychological Manifestations

    Yasodha Maheshi Rohanachandra


    Full Text Available Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment.

  10. Evaluation of the representativeness of a Dutch non-malformed control group for the general pregnant population : are these controls useful for EUROCAT?

    Jentink, J.; Zetstra-van der Woude, A.P.; Bos, Jens; De Jong-Van den Berg, L.T.


    Purpose A case-control study is the most powerful design to test the risk of specific congenital malformations associated with a specific drug. However, malformation registries often lack non-malformed controls. For the Dutch EUROCAT, we collected a non-malformed control group: the 'Healthy Pregnant

  11. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Alok Sachan


    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.

  12. 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

    Jazmín Arteaga-Vázquez


    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

  13. Contemporary diagnosis of venous malformation

    Lee BB


    Full Text Available BB Lee,1 I Baumgartner21Department of Surgery, George Washington University, Washington, DC, USA; 2Swiss Cardiovascular Center, University Hospital Bern, Bern, SwitzerlandAbstract: Venous malformation is a congenital vascular malformation resulting from defective development during various stages of embryogenesis and selectively affecting the venous system. Depending on the embryologic stage when the developmental arrest occurred, the clinical presentation of venous malformation is extremely variable in location, extent, severity, natural progression, and hemodynamic impact. Extratruncular lesions occur in the earlier stages of embryonic life, and retain characteristics unique to mesenchymal cells (angioblasts, growing and proliferating when stimulated internally (eg, by menarche, pregnancy, and hormones or externally (eg, by trauma or surgery. These lesions also have a significant hemodynamic impact on the venous system involved, in addition to the risk of localized intravascular coagulopathy. However, truncal lesions, as defective developments along the late stage, no longer carry the risk of proliferation and recurrence due to lack of mesenchymal characteristics. Although, they often have serious hemodynamic consequences due to direct involvement of the main vein trunk. Therefore, a thorough clinical history and careful physical examination should be followed by an appropriate combination of noninvasive and less invasive tests (eg, Doppler ultrasonography, magnetic resonance imaging, computed tomography to confirm the clinical impression as well as to define the extent and severity of the venous malformation. Invasive tests, eg, phlebography or angiography, are seldom needed for the diagnosis per se. Additional evaluation for coagulation abnormalities, eg, D-dimer and fibrinogen levels, is generally recommended, especially for the treatment of surgery and endovascular candidates with extensive lesions to assess the localized intravascular

  14. Cochlear Implantation in Children with Cochlear Malformation.

    Saikawa, Etsuko; Takano, Kenichi; Ogasawara, Noriko; Tsubomatsu, Chieko; Takahashi, Nozomi; Shirasaki, Hideaki; Himi, Tetsuo


    Cochlear implantation (CI) has proven to be an effective treatment for severe bilateral sensorineural hearing loss (SNHL). Inner ear malformation is a rare anomaly and occurs in approximately 20% of cases with congenital SNHL. In cases with cochlear malformation, CI can be successfully performed in nearly all patients, the exceptions being those with complete labyrinthine and cochlear aplasia. It is important to evaluate the severity of inner ear deformity and other associated anomalies during the preimplantation radiological assessment in order to identify any complication that may potentially occur during the surgery and subsequent patient management.

  15. Papilloedema due to Chiari I malformation.

    Zhang, Jason Chao; Bakir, Belal; Lee, Andrew; Yalamanchili, Sushma S


    The Chiari I malformation is a congenital abnormality characterised by downward displacement of the cerebellar tonsils through the foramen magnum into the cervical spine. It presents clinically most often in young adult women. Known ocular manifestations linked to Chiari I consist primarily of oculomotor paresis with cranial nerve VI palsy and convergence/divergence abnormalities. Papilloedema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To highlight this unusual complication, the authors report a 64-year-old female who developed papilloedema as the only presenting neurological symptom resulting from a Chiari I malformation.

  16. Congenital Pouch Colon

    Vivek Gharpure


    Full Text Available Face The Examiner:QUESTIONS1. What are the diagnostic features of congenital pouch colon (CPC?Ans: A male patient with CPC often have a wide colovesical fistula and present with anorectal malformation and meconuria; on plain abdominal film, a single large bowel loop occupying more than 50% of the abdominal cavity is also a diagnostic sign. Girls (persistent cloaca/vestibular fistula/anteriorly placed anus etc. often present late with intractable constipation or multiple episodes of enterocolitis and persistent abdominal distension with common cloaca or anterior ectopic anus/ rectovestibular fistula. The congenital pouch colon can be identified as replacement of a part or entire colon in the configuration of pouch that lacks taenia coli, haustrations, appendices epiploicae, abnormal blood supply and a wide fistula with genitourinary system in a patient of anorectal malformation.

  17. The expression of IGF-2 in tetrachlorodibenzodioxin-induced congenital skeleton malformation%IGF一2在四氯二苯并二恶英诱导的大鼠骨骼畸形中的表达

    郭磊; 赵玉岩; 张世亮; 朱世博; 刘魁


    目的 探讨骨骼发育畸形的大鼠软骨组织内胰岛素样生长因子(insulin-like growth factors,IGFs)家族成员IGF-2的表达规律.方法 应用环境类致畸因子二恶英中毒性最强的四氯二苯并二恶英,即2,3,7,8-四氯一二苯并-对-二恶英(2,3,7,8-tetrachlorodibenzo-p-dioxin,TCDD)构建先天性大鼠骨骼发育畸形动物模型.应用光镜和透射电镜观测骨骼畸形大鼠的足部软骨组织病理学改变.免疫组织化学染色分析大鼠软骨组织IGF-2蛋白的表达.应用TCDD干预体外培养的大鼠软骨细胞,采用RT-PCR及Western印迹杂交检测软骨细胞内的IGF-2 mRNA及蛋白质的表达水平.结果 TCDD(15 μg/kg)诱导实验组33.3%的胎鼠出现单一或多种畸形,包括:内翻足、小脑畸形、腭裂、无尾畸形等,在骨骼畸形胎鼠的足部软骨发生带缩小,软骨细胞数量减少,软骨细胞核内粗面内质网扩张,核基质降解,线粒体嵴紊乱.15 μg/kg剂量的TCDD使畸形胎鼠软骨细胞内IGF-2蛋白质的表达明显降低.TCDD(1 × 10-8 mol/L)作用体外培养的大鼠软骨细胞24 h,细胞内IGF-2的基因转录和翻译水平分别减少80%和60%,P<0.05.结论 IGF 2在大鼠软骨细胞内的低表达可能与TCDD对骨骼发育的致畸作用密切相关.%Objective To investigate the gene expression of insulin-like growth factors-2(IGF2)in fetal rat with congenital skeleton malformation.Methods The fetal rat models with congenital skeleton malformation were induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin(TCDD)to the pregnant Wistar rats(day 10).Histopathologic characteristics of cartilaginous tissue in fetal foot were detected with light microscope and transmission electron microscope.IGF-2 protein level in cartilaginous tissue was analyzed by immunocytochemical methods and image analysis.The IGF-2 mRNA and protein level in TCDD-treated chondrocytes in vitro were detected by reverse transcription polymerase chain reaction and western blotting

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

    Rosana Cardoso Manique Rosa


    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

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

    Rosana Cardoso Manique Rosa


    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

  20. Anorectal malformations

    Peña Alberto


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

  1. [Congenital hepatic fibrosis: apropos of 12 cases].

    Murga, M L; Jara, P; Díaz, M C; de la Rubia, L; Arroba, M L; Larrauri, J; Vázquez, C


    Twelve patients with congenital hepatic fibrosis have been retrospectively studied and followed for 1 to 14 years. Clinical features, hepatic function tests and biopsy have been analyzed. Presence of portal hypertension and congenital malformation have been investigated. Clinical presentations varies from newborn to nine years of age without male or female predominance. Most frequent clinical form has been hypertensive type. Cholangitic type has worse prognosis. Familiar recurrence rate is 20%. Congenital malformations are associated in 92% most frequently infantile polycystic kidney disease. Hepatic biopsy has confirmed diagnosis in all patients.

  2. The role of seasonal factor in congenital abnormality forming

    O. V. Antonov


    Full Text Available The results of prevalence, structure and timerisk study in children birth with malformations inOmskin the period of 1998—2008 are presented. Birth of children with congenital abnormality weight average index accounted for (47.72 ± 0.66%. Musculoskeletal and cardiovascular malformations prevailed in birth abnormality total number structure. Accor­ding to ICD-10 the congenital malformations were united in groups and seasonal variation indices nave been determined for them. Study results indicated the predominance of children conception cases with high risk malformations forming in August, November and December.

  3. The management of congenital malpositions of eyelids, eyes and orbits.

    Morax, S; Hurbli, T


    Congenital malformations of the eye and its adnexa which are multiple and varied can affect the whole eyeball or any part of it, as well as the orbit, eyelids, lacrimal ducts, extra-ocular muscles and conjunctiva. A classification of these malformations is presented together with the general principles of treatment, age of operating and surgical tactics. The authors give some examples of the anatomo-clinical forms, eyelid malformations such as entropion, ectropion, ptosis, levator eyelid retraction, medial canthus malposition, congenital eyelid colobomas, and congenital orbital abnormalities (Craniofacial stenosis, orbital plagiocephalies, hypertelorism, anophthalmos, microphthalmos and cryptophthalmos).

  4. Congenital scoliosis - Quo vadis?

    Debnath Ujjwal


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

  5. 产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值%Diagnostic Value of Prenatal Ultrasound Screening on Fetuses with Complex Congenital Heart Malformation in Second Trimester of Pregnancy

    夏曦; 周芬芳; 陈宏; 陈莉


    Objective To explore the diagnostic value of prenatal ultrasound screening on fetuses with complex con-genital heart malformation in second trimester of pregnancy. Methods From February 2012 to February 2014,the examination data of prenatal ultrasound screening of 9 300 pregnant women in second trimester of pregnancy in our hospital were retrospectively analyzed,the ultrasound findings and follow - up results were compared. Results The positive rate of complex congenital heart malformation was 0. 29% (27 / 9 300). There was no significant differences of detection rate of endocardial cushion defect, transposition of the great arteries,single atrium or ventricle,left or right heart dysplasia,persistent truncus arteriosus,inter-rupted aortic arch,left ventricular cardiac rhabdomyoma,Fallot's tetrad,outside heart malformations and ventricular septal de-fect between ultrasound findings and the fellow - up results(P > 0. 05). A total of 5 cases(0. 05% )got missed diagnosis,in-cluding one case of Fallot's tetrad,2 cases of pulmonary artery stenosis,2 cases of ventricular septal defect. Conclusion Pre-natal ultrasound screening has a higher accurate diagnosis rate on fetuses with complex congenital heart malformation in second tri-mester of pregnancy,is helpful in reducing the birth rate of fetuses with complex congenital heart malformation and to prenatal and postnatal care.%目的:探讨产前超声筛查对妊娠中期胎儿复杂先天性心脏畸形的诊断价值。方法回顾性分析2012年2月-2014年2月在我院进行产前超声筛查的9300例妊娠中期孕妇的超声检查资料,比较超声检查结果和产后随访结果。结果9300例孕妇共检出27例复杂先天性心脏畸形胎儿,检出率为0.29%。超声筛查对心内膜垫缺损、大动脉转位、单心房/单心室、左心/右心发育不良、永存动脉干、主动脉弓中断、左室横纹肌瘤、法洛四联征、合并心外畸形及室间隔缺损的检出率与随访结

  6. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    Patel, Tirth R.; Moberly, Aaron C.


    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient’s risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multi...


    A. Burgio


    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.




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

  9. 儿童先天性肺囊性腺瘤样畸形的影像学诊断%Diagnostic imaging of children’s congenital cystic adenomatoid lung malformation

    张建飞; 干芸根; 陈秋妍; 张龚巍


    目的:探讨儿童先天性肺囊性腺瘤样畸形的影像学表现,提高对本病的认识。方法搜集23例经病理证实的儿童先天性肺囊性腺瘤样畸形患者的X线和C T资料,分析影像学特点,并与组织病理学资料作对照分析。结果18例患儿胸片表现异常,其中气胸样改变9例,多囊状改变7例,肿块样实变1例,肺炎样改变1例,其中合并肺纵隔疝9例,出现患侧肺气肿16例;5例患儿胸片表现正常。C T表现为巨大囊腔7例,类圆形薄壁囊腔7例,蜂窝样小囊8例,肿块样改变1例,其中,3例可见液平面,右肺受累11例,左肺受累12例;Stocker分型I型15例,II型7例,III型I例。结论 CT检查可作为诊断儿童先天性肺囊性腺瘤样畸形的可靠方法。%Objective To investigate the imaging features of children’s congenital cystic adenomatoid lung malformation (CCAM ) ,and improve the recognition of the disease .Methods 23 children with pathological proved CCAM were re‐viewed rospectively and comparatively analysis between imaging and histopathology were made .Results Chest X‐ray (CXR) showed an abnormality in 18 children ,including pneumothoracic‐like change in 9 patients ,vesicles appearance in 7 patients ,tumor‐like change and pneumonia‐like change in 1 patient separately .9 patients incorporated with pulmonary me‐diastinal hernia ,and 16 patients with emphysema at the affected side ;CXR was unremarkable in 5 patients .On CT scan , 7 patients incorporated with large cysts ,7 patients had circular thin‐walled cystic lesion ,8 patients had honey combing‐like vesicles ,1 patient had tumor‐like change ,among in which 3 patients had a few liquid .Right lung was implicated in 11 pa‐tients ,left lung was implicated in 12 patients .According to Stocker classification ,15 patients were typy I ,7 patients were typy II and 1 patient was type III .Conclusion Imaging findings ,especially CT scan ,is a reliable

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

    Maryam Nik Nejadi


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

  11. A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma.

    Hill, S; Rademaker, M


    Glomuvenous malformations are a subtype of venous malformations, which present in infancy or childhood. We describe a teenage girl who presented with multiple digital glomuvenous malformations from birth. In addition, she had an epidermal naevus on the upper lip, an area of congenital alopecia of the scalp, heterochromia irides and an abdominal lipoblastoma. We are unaware of any reports of the association of multiple glomuvenous malformations with the other uncommon developmental anomalies seen in our patient, and a common link eludes us.

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

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


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

  13. Vein of Galen malformation: What to do when vascular access is not feasible?

    Zenteno Marco


    Full Text Available Background: The vein of Galen aneurysmal malformation (GVAM is a rare congenital vascular lesion, with high morbidity and mortality without treatment, endovascular management is the best alternative available today.

  14. Otosclerosis associated with type B-1 inner ear malformation.

    De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A


    Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis.

  15. Malformations of cortical development: genetic mechanisms and diagnostic approach


    Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development. PMID:28203254

  16. Ethanol sclerotherapy of peripheral venous malformations

    Rimon, U. E-mail:; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B


    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.

  17. Successful aortic root replacement and shunt closure in a case with rare coexistence of congenital cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale.

    Egashira, Toru; Shimizu, Hideyuki; Yamada, Yoshitake; Fukuda, Keiichi


    This is the first report of rare simultaneous complication of three cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale. We successfully operated to replace the aortic valve and ascending aorta, and to close the patent foramen ovale.

  18. Psychosexual Well-Being after Childhood Surgery for Anorectal Malformation or Hirschsprung's Disease

    Hondel, D. van den; Sloots, C.E.; Bolt, J.M.; Wijnen, R.M.H.; Blaauw, I. de; Ijsselstijn, H.


    INTRODUCTION: Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are congenital malformations requiring pelvic floor surgery in early childhood, with possible sequelae for psychosexual development. AIMS: To assess psychosexual well-being in adult ARM and HD patients related to health-rel

  19. Congenital Hypothyroidism

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  20. Changes of intestinal microflorae in infants with congenital anorectal malformation after the surgery :a prospective study%先天性肛门直肠畸形患儿术后肠道菌群变化的前瞻性研究

    安悦; 王佚; 李晓庆; 艾青; 余加林; 代英; 程茜


    Objective:To observe the changing trends of intestinal microflorae in the postoperative infants with congenital anorectal malformation(ARM).Methods:Real-time quantitative PCR was used to detect the numbers of three main intestinal microflorae in stools of 21 congenital ARM infants aged 10 d(the day before discharge),1 month and 3-4 months.The number of microflorae was compared between 21 congenital ARM infants and 21 normal infants.Results:(1)In congenital ARM 10 d group,the number of bifidobacteria versus the number of escherichia coli(B/E) was <1 ;the number of B/E was higher than that of bifidobacteria and lactobacilli in congenital ARM 10 d group(P=0.021,P=0.004) ;the number of lactobacilli was higher in congenital ARM 10 d group than in normal control group(P=-0.001).(2)B/E was increased in congenital ARM 1 month group(B/E>1) than in congenital ARM 10 d group (P=0.030).The number of bifidobacteria was increased significantly (P=0.001),higher than that of B/E or lactobacilliin congenital ARM 1 month group(P=-0.001 and P<0.001).The numbers of bifidobacteria and lactobacilli were higher in congenital ARM 1 month group than in normal control group(P=0.004 and P<0.001).(3)The number of lactobacilli was lower in congenital ARM 3-4 months group than in congenital ARM 1 month group(P=0.005) and there was no difference in the number of lactobacilli congenital ARM 3-4 months group and normal control group(P=0.571).The number of bifidobacteria was higher in congenital ARM 3-4 months group than in normal control group(P=0.004).(4)The number of bifidobacteria was higher in infants taking probiotics continuously in congenital ARM-4 months group than in infants in normal control group(P=0.013) whereas there was no significant difference in the number of bifidobacteria between infants taking probiotics discontinuously in congenital ARM 3-4 months group and infants in normal control group(P=0.032).Conclusion:(1)B/E is the predominant bacteria and the number of

  1. Cerebral malformations in Carpenter syndrome.

    Taravath, S; Tonsgard, J H


    The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.

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

    Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)


    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.)

  3. Concomitant malformations and chromosomal abnormalities in prenatally diagnosed congenital diaphragmatic hernia%胎儿先天性膈疝及其相关异常的产前诊断

    郑菊; 谢红宁; 李丽娟; 林美芳; 朱云晓


    Objective To analyze the concomitant malforrnations,chromosomal abnormalities and outcomes in prenatally diagnosed congenital diaphragmatic hernia (CDH) cases. Methods Cases of fetal CDH,prenatally identified in the First Affiliated Hospital of Sun Yat-sen University from January 2002 to November 2008,were recruited.The concomitant realformations,chromosomal abnormalities and outcomes of fetal CDlH were analyzed.Fisher's exact test was applied. Results During the study period,71 CDH cases were identified including 62(87.3%) left-sided CDH and 9 (12.7%) right-sided ones.Among the 71 CDH fetuses,38(53.5%)were isolated CDH.33 (46.5%)were complicated with other realformations(complex CDH),including 18(54.5 0A) cardiovascular defects,10 (30.3%)central nervous system abnormalities,9(27.2 0A)genitourinary abnormalities and others.Fetal karyotying was performed in 19 out of the 71 CDH fetuses.among which 12 were isolated CDH cases with normal karyotype,and 4 of the rest 7(4/7)complex CDH cases with chromosomal abnormalities showing a significant differenee compared to the isolated CDH (P.0.009).Sixty-five pregnancies were terminated including all complex CDH(n=33)and 32 isolated CDH.The rest 6 isolated CDH fetuses were term delivered and 5 of them survived after repair of diaphragmatic hernia and one died after birth. Conclusions Left-sided CDH are more common than right-sided ones. Approximately half of the CDH cases are complicated with other malformations,especially cardiovascular abnormalities.The risk of chromosomal abnormalities increases in complex CDH and is relatively low in isolated CDH.The influence of surgical procedure on the prognosis of CDH has not yet determined.%目的 分析胎儿先天性膈疝与合并其他畸形及染色体异常的相关性,探讨可能影响膈疝预后的因素. 方法 总结2002年1月至2008年11月在我院产前超声诊断的胎儿膈疝病例,分析其类型、合并畸形种类、与染色体异常的关系及临床结局.

  4. 先天性肺囊性腺瘤样畸形的超微结构与组织分型对照分析%Comparative analysis in ultrastructure and histological types for congenital cystic adenomatoid malformation

    洪淳; 俞钢; 张佳立; 郭雪贞


    目的 通过了解先天性肺囊性腺瘤样畸形(CCAM)的超微结构特征,探讨其影像分型与病理分型及电镜下超微结构之间的关系.方法 选取广东省妇幼保健院2014年5月至11月间的CCAM病例,应用增强肺部CT进行影像学分型;将手术标本进行HE染色,并利用电镜技术,对比观察各分型的组织结构.结果 选取8例CCAM作为研究对象,其中男5例,女3例;手术年龄(5.4±1.1)个月.影像学分型中,大囊型(Ⅰ型)(直径>2 cm)2例;小囊型(Ⅱ型)(直径≤2 cm)3例;微囊型(Ⅲ型)3例.病理分型Ⅰ型1例,Ⅱ型4例,Ⅲ型3例.其中1例CT分型为Ⅰ型,病理分型为Ⅱ型;其余均一致.电镜下普遍显示为肺泡腔扩大,肺泡细胞减少,板层小体少,不成熟;微绒毛减少.从电镜角度分析,Ⅰ、Ⅱ型之间,并非有着明显区别.Ⅰ、Ⅱ型共同的特点包括了肺泡腔多以扩大为主,在扩大的肺泡腔之间存在少数受压缩小的肺泡腔;肺泡细胞均出现数量少、不成熟的表现,纤维组织增生.结论 CCAM超微结构分析与临床病理分型存在差异,提示了电镜超微结构分析与病理的结合对于CCAM分型的重要性.需要进一步进行光镜-电镜的对照分型;并结合随访作出相关的预测模型.%Objective To explore relationship between imaging classification and pathological type,and the electron microscopic ultrastructure by observing the ultrastructural features of congenital cystic adenomatoid malformation (CCAM).Methods Children with CCAM in the Guangdong Women and Children Hospital from May 2014 to November 2014,were analyzed,imaging classification was performed according to enhanced Computed Tomography (CT) scanning,and the surgical specimens were stained by HE and scanning electron microscope was used to observe the tissue structures of various of CCAM.Results Eight cases were enrolled in this research (5 boys and 3 girls),and the mean age of surgery was (5.4 ± 1.1) month old.According to the




    Full Text Available Dandy Walker malformation is a rare congenital abnormality that affects the cerebellum and some of its components; particularly hypoplasia of cerebellar vermis, a cystic dilatation of fourth ventricle and is characterized by an enlarged posterior fossa. Here we present a case of classical DWM with antenatal and postnatal imaging

  6. Morning glory disc anomaly with Chiari type I malformation.

    Arlow, Tim; Arepalli, Sruthi; Flanders, Adam E; Shields, Carol L


    Morning glory disc anomaly is a rare optic nerve dysplasia associated with various neovascular abnormalities. Due to these associations, children with morning glory disc anomaly have brain imaging and angiography to detect other congenital defects. The authors report the case of an infant with morning glory disc anomaly and coexisting Chiari type I malformation.

  7. DNA methylation abnormalities in congenital heart disease.

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A


    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  8. Karyotyping analysis of 396 newborns with congenital malformations and chromosomal abnormalities and the associated phenotypes%新生儿先天畸形396例染色体异常核型及其表型临床特征分析

    王红英; 李海波; 何亚香; 杨乃超; 邵雪君; 薛永权


    目的 研究新生儿畸形的主要染色体核型及其临床表型.方法 对2006年1月至2012年5月在苏州大学附属儿童医院就诊的396例先天畸形新生儿按常规方法制备外周血淋巴细胞染色体,G显带并进行核型分析;对各型核型异常患儿的临床表型进行统计分析.结果 1.新生儿396例中检出外周血染色体异常核型159例,异常率为40.2%,其中国内外首次报道3例.2.异常核型中以21-三体(唐氏综合征)最为常见,共130例,占81.8%,其中119例为标准型,10例合并涉及D组或G组的罗伯逊易位,1例伴有性染色体异常.3.其他常见异常核型依次为del(5) (p12-14)4例、18-三体4例、45,XO 4例、inv(9) (p11q12-21)4例、X-三体1例、Rob(13;14)1例、8-三体1例、del(18) (q22)1例等.4.染色体病的临床表型有特殊面容147例(92.5%)、先天性心脏病97例(61.0%)、低出生体质量72例(45.3%)、先天性肛门闭锁13例(8.1%)、多发性畸形11例(6.8%)、肠畸形10例(6.2%)、外生殖器异常9例(5.7%)、猫叫样哭声4例(2.5%)、四肢水肿4例(2.5%)、指趾异常6例(3.6%)、先天性脑发育不良6例(3.6%)、颈蹼5例(3.1%)和唇腭裂3例(1.8%)等.结论 染色体核型异常是导致新生儿先天性疾病的重要因素;特殊面容、先天性心脏病、低出生体质量、多发性畸形是新生儿染色体病的主要临床体征.%Objective To reveal the chromosome abnormalities and their relationship with the clinical phenotype of neonates with congenital malformation.Methods Karyotype analysis of peripheral blood lymphocytes was performed on 396 newborns with congenital malformation,who were recruited at the Children's Hospital Affiliated to Soochow University from Jan.2006 to May 2012,chromosome karyotypes were prepared with neonatal peripheral lymphocytes by conventional G-banding technique.Results 1.Of 396 newborns,159 (40.2%) cases were detected to have chromosomal abnormalities

  9. The Diagnostic Value of Prenatal Ultrasound Screening for Complex Con-genital Cardiac Malformations During the Middle and Middle Pregnancy%中孕期胎儿产前超声筛查对复杂先天性心脏畸形的诊断价值探讨

    李佳; 黄文英; 孙格格


    目的 分析妊娠中期胎儿行产前超声筛查对复杂先天性心脏畸形的临床诊断价值. 方法 整群选取该院2014年4月-2015年4月收治的5 800例妊娠中期的孕妇作为研究对象, 对其超声结果与产后的随访记录进行进一步分析. 结果共检出32例胎儿患有复杂先天性心脏畸形,检出率为0.55%.彩色多普勒超声诊断仪对单心房或单心室、大动脉转位、心内膜垫缺损、主动脉弓中断、永存动脉千、左心或右心发育不良、合并心外畸形、法洛四联征、左室横纹肌瘤和室间隔缺损进行筛查时,其检出率和随访记录差异无统计学意义;漏诊率为0.05%,漏诊的患儿分别为肺动脉狭窄、法洛四联征和室间隔缺损各1例. 结论 妊娠中期对胎儿进行产前超声筛查对其复杂先天性心脏畸形的临床诊断准确率较高,可降低复杂先天性心脏崎形胎儿出生率.%Objective To analyze the clinical diagnostic value of prenatal ultrasound screening for complex congenital cardiac mal-formations in the middle trimester of pregnancy. Methods In our hospital in April 2014 to 2015 April of 58 cases of prenatal ul-trasound screening in the second trimester pregnant women as the object of study and analysis of the ultrasonic imaging data and clinical data were retrospectively. The ultrasonic results and postpartum follow-up records for further analysis. Results 5 800 cases of pregnant women were checked out in 32 fetuses with complex congenital heart malformation, the detection rate was 0.55%. Col-or Doppler ultrasonic diagnostic apparatus of single atrial or ventricular, great artery transposition, endocardial cushion defect, aor-tic arch interruption, persistent truncus arteriosus thousand, left right heart or heart development adverse, with extra cardiac malfor-mations, tetralogy of Fallot, left ventricular rhabdomyoma and ventricular septal defect screening, by comparing the detection rate and follow-up record, the

  10. Congenital Diaphragmatic Hernia

    Tovar Juan A


    Full Text Available Abstract Congenital Diaphragmatic Hernia (CDH is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is

  11. Congenital hemifacial hyperplasia

    S A Deshingkar


    Full Text Available Congenital hemifacial hyperplasia (CHH is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge.

  12. Congenital pachygyria

    Jing-xia HU


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

  13. Chiari-I malformation in two fighter pilots.

    Akin, Ahmet; Canakci, Zafer; Sen, Ahmet; Tore, Hasan F


    This report describes two cases of Chiari Malformation Type I (Chiari-I) in fighter pilots of the Turkish Air Force. Chiari-I is a congenital malformation characterized by herniation of cerebellar tonsils through the foramen magnum. Patients have symptoms and signs related to dysfunction of the brainstem, spinal cord, and cerebellum. They generally are symptomatic in the earlier years of life. However, asymptomatic cases can eventually become symptomatic in later years. Symptoms can be provoked by increasing intracranial pressure (Valsalva or straining). We report on two pilots with Chiari-I malformation who had no symptoms or signs in their daily activities. Furthermore, these pilots had successfully completed physiological training, including centrifuge training, without any symptoms. However, they suffered from headache, neck spasms, and/or disequilibrium under +Gz during flight training sorties. The clinical presentation, diagnosis, treatment, possibility of acquired cases, and aeromedical disposition of Chiari malformations are discussed.

  14. Case series: Congenital left ventricular diverticulum

    Shah Dharita


    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

  15. Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes

    Russell, Meaghan K; Longoni, Mauro; Wells, Julie


    Congenital diaphragmatic hernia (CDH) is a common (1 in 3,000 live births) major congenital malformation that results in significant morbidity and mortality. The discovery of CDH loci using standard genetic approaches has been hindered by its genetic heterogeneity. We hypothesized that gene expre...

  16. Congenital medium sternal cleft with partial ectopia cordis repair.

    Sousa, Paulo Rego; Antunes, Sónia; Couto, Alexandra; Santos, Gonçalo Cassiano; Leal, Luis Gagp; Magalhães, Manuel Pedro


    Congenital sternal malformation is a rare anomaly often diagnosed as an asymptomatic condition at birth. The authors report a clinical case of a full-term female neonate with congenital sternal cleft and partial ectopia cordis. Successful surgical repair was accomplished at 6 days of age. When surgery is performed shortly after birth, the procedure is easier and better results are achieved.

  17. Posterior vertebral column resection and release in treatment of congenital severe angular kyphosis%后路全脊椎切除与松解治疗先天性重度脊柱角状后凸

    李超; 付青松; 周宇; 于海洋; 赵刚; 崔西龙; 兰魁勇; 尹稳


    目的探讨后路全脊椎切除与松解治疗先天性重度脊柱角状后凸的临床效果及其安全性。方法2004年2月-2012年2月,采用后路全脊椎切除与松解治疗先天性重度脊柱角状后凸畸形患者14例。其中男5例,女9例;年龄6~42岁,平均20.6岁。先天性分节不全型3例,先天性半椎体型8例和混合型3例。术前脊柱后凸 Cobb 角91°~155°,平均109.4°;术前矢状面偏移-0.1~5.5 cm ,平均0.9 cm。13例合并脊柱侧凸,Cobb角11°~128°,平均67.5°;术前冠状面偏移0~6.5 cm,平均2.6 cm。8例半椎体畸形中有2例合并神经损害,Frankel分级C级和D级各1例。术前Oswestry功能障碍指数(ODI)评分0~45分,平均16.8分。结果手术时间为5.6~10.7 h,平均6.9 h;术中出血1400~5100 ml,平均3160 ml;脊髓短缩为1.9~2.9 cm,平均缩短2.4 cm。融合固定节段为6~14节椎体,平均10.4节。14例患者均得到随访,随访24~96个月,平均44.9个月。末次随访结果:脊柱后凸 Cobb 角9°~44°,平均26.4°,后凸矫正率75.8%;矢状面偏移矫正到-0.8~0.5 cm,平均0.09 cm,矫正率89.8%;脊柱侧凸Cobb角0°~55°,平均17.2°,侧凸矫正率74.6%;冠状位偏移矫正到0~2.7 cm,平均0.5 cm,冠状位不平衡矫正率81.3%。术前2例神经损害者,术后Frankel分级恢复到E级。术后ODI评分0~2分,平均0.2分,改善率为98.8%。所有患者获得良好的骨质愈合,无脊髓损伤。结论后路全脊椎切除与松解治疗先天性重度脊柱角状后凸能有效改善脊柱的柔韧性,可获得极好的畸形矫正,且安全有效。%Objective To examine the efficacy of posterior vertebral column resection and release in treatment of severe congenital angular kyphosis. Methods From February 2004 to February 2012, 14 patients with severe congenital angular kyphosis deformity were treated surgically by posterior vertebral column resection and release. There were 5 males and 9 females with an average age of 20. 6 years ( range


    Amrish Tiwari


    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.

  19. Clinical Features of Children with Congenital Malformations of Inner Ear in Sensorineural Hearing Loss%儿童感音神经性耳聋中先天性内耳畸形的临床特征

    李幼瑾; 杨军; 李蕴


    目的:分析在儿童感音神经性耳聋(sensorineural hearing loss,SNHL)中先天性内耳畸形患儿的影像学及临床特征.方法:回顾分析860例SNHL患儿中因听力障碍(109例) 、外耳畸形(3例)、面部异常(13例)来就诊的125例(225耳)患儿的临床资料.结果:109例(87.2%)患儿因听力障碍就诊,母亲妊娠早期有感冒史52例(41.6%).166耳(73.8%)极重度耳聋,累及双侧100例(80%).颞骨高分辨率CT或磁共振成像(MRI)显示其中同时合并外耳及中耳畸形3耳,合并中耳畸形13耳.Michel 畸形2例(4耳),耳蜗不发育1例(1耳),共同腔畸形10例(14耳),不完全分隔-I型2例(2耳),耳蜗前庭发育不良2例(2耳),不完全分隔-II型(Mondini 畸形)19例(29耳).累及前庭导水管扩大91例(170耳)(75.6%),半规管畸形30例(46耳)(20.6%),内听道畸形35例(49耳)(21.7%).结论:前庭导水管扩大是儿童SNHL中最常见的内耳影像学异常.患儿多为双侧重度听力损失或全聋.对于先天性内耳畸形的患儿行高分辨率CT检查非常重要.%Objective: To study the clinical features of inner ear malformations with sensorineural hearing loss(SNHL)in children Methods: Retrospective chart review, 860 patients with SNHL,of which 125 children(225 ears) with inner ear malformations diagnosed with temporal bone computed tomography (CT) scans who referred to the Ear, Nose and Throat (ENT) Department of Children Medical Center from February 2005 to January 2010,109 cases due to hearing loss and other 3 cases due to external ear malformations, 13 cases due to face abnormality, were retrospectively studied. Results: A total of 109(87.2%) cases were found hearing loss, 52 cases (41.6%)mothers were noted to have caught a cold in first trimester of pregnancy. Hearing loss was typically bilateral in 100 ears(80% ) ,and profound sensorineural hearing loss in 166 ears (73.8%). Of the total, 3 ears were accompanied by outer and middle ear malformations, 13 ears accompanied by

  20. Cochlear implant in patients with congenital malformation of the inner ear%先天性内耳畸形患者人工耳蜗植入的临床体会

    万良财; 郭梦和; 钱宇虹; 刘双秀; 张宏征; 陈帅君; 陈浩; 龚剑


    Objective To summarize the clinical experience with multi-channel cochlear implantation in patients with inner ear malformations and evaluate and the outcomes of speech rehabilitation. Methods A retrospective study was conducted in 295 patients receiving cochlear implantation from 1998 to 2007, including 25 patients with large vestibular aqueduct syndrome (LVAS), 9 with Modini malformation, and 5 with common cavity deformity. All the patients received the Nucleus24 cochlear implants. In LVAS cases, 4 had Nucleus 24R (ST) implants, 8 had Contuor implants, 10 had Contuor Advance, and the remaining cases used Nucleus24(M) straight-electrode implants. Results Severe gusher appeared in 3 cases of LVAS, and perilymph fluctuation were seen in aother 15 cases. Four patients with Mondini malformation and 2 with common cavity malformation also experienced severe gusher, but the electrodes were inserted smoothly in all the patients without postoperative facial paralysis or cerebrospinal fluid leakage. The hearing threshold in these patients was similar to that in patients with normal cochlear structure. After speech rehabilitation for over 6 months, the abilities of speech discrimination and spoken language improved in all the cases in comparison with the preoperative lingual functions. Conclusion Multi-channel cochlear implantation can be performed in patients with inner ear malformation, but should not be attempted in patients with poor cochlear and cochlear nerve development. A comprehensive pre-operative radiographic and audiological evaluation is essential.%目的 探讨先天性内耳畸形重度或极重度感音神经性聋患者人工耳蜗植入方法及术后言语康复效果.方法 回顾性分析1998-2007年于我科行人工耳蜗植入295例患者的临床资料,其中前庭水管扩大25例,Modini畸形9例,共同腔畸形5例.所有患者均采用澳大利亚Nucleus24型人工耳蜗.对大前庭水管综合症患者,4例采用Nucleus 24R(ST)型植入体.8

  1. A Histological Study of the Plexuses and Ganglionic Cells in the Distal Rectal Wall in Congenital Anorectal Malformations%先天性肛门直肠畸形直肠远端肠肌丛及肌间神经节细胞的观察

    王常林; 李正


    A postmortal histological study of the enteric plexuses and ganglionic cells in the distal rectal wall was made on 22 infants with congenital anorectal malformation,and 5 normal died newborns as controls.The rectal wall under study was 2 cm in length:12 from patients of supralevafor type deformity,6 from intermediate.and 4 from infralevator type deformity(3 out of these 4 having been operated).Normal plexuses and ganglionic cells are found in the distal segment of the rectum of all patients.The number of the plexuses and ganglionic cells does not vary as the types of the malformation,but does vary as the birthweight of the babies and the thickness of the rectal wall.The number of plexuses and ganglionic cells in 3 patients with vestibular fistula is same as that in normal infants. but they a re absent in the distal rectal wall of 1 to 2 cm in length in the postoperated patients.%22例肛门直肠畸形儿直肠远端2 cm肠壁做了肌间神经丛、神经节细胞组织学观察.结果,直肠远端有神经丛、神经节细胞分布.神经节细胞发育程度,与直肠盲端位置无关,与出生体重有关;而神经丛、神经节细胞数量,与肠壁薄厚有关.术后有一部分肠壁有坏死灶,神经丛、神经节细胞消失.

  2. Shh/Bmp4信号在直肠末端的表达与先天性肛门直肠畸形发生的关系%Down-regulation of Shh/Bmp4 signaling pathway in congenital ano- rectal malformations

    张娟; 张志波; 高红; 王维林


    Objective To assess the relationship between the expression of Shh/Bmp4 signaling pathway and congenital anorectal malformations (CAM). Methods The posterior wall of terminal rectum of 40 anorectal malformation patients (15 high and 25 low) and 10 normal controls were sampled. The Shh、Gli2 and Bmp4 mRNA were extracted, assayed by RT-PCR and the difference between the two groups was compared. Results The expression levels of Shh、 Gli2 and Bmp4 mRNA were significantly lower in high CAM than those in low CAM and in control group. There was no significant difference between the low CAM and control group except the Gli2 gene. Conclusions Down-regulation of Shh/Bmp4 signaling pathway may be one of the factors contributing to the pathogenesis of CAM. There may be other mechanisms involved in low CAM.%目的 研究先天性肛门直肠畸形(CAM)直肠末端Shh/Bmp4信号表达水平,探讨其与畸形发生的关系.方法 采用RT-PCR方法检测15例高位CAM、25例低位CAM和10例正常对照组直肠后壁末端Shh、Gli2和Bmp4表达水平,比较正常组与CAM组、CAM组不同类型之间表达水平的差异.结果 高位CAM的Shh、Gli2和Bmp4表达水平明显低于正常及低位CAM(P0.05).结论 高位CAM的发生可能与Shh/Bmp4信号表达下调有关,低位CAM可能涉及其他机制.

  3. [Recurrent meningitis in inner ear malformations].

    Claros, Pedro; Matusialk, Monika


    Authors present two cases of children with reccurent meningitis and unilateral deafness. Implemented diagnostics (CT, NMR, ABR) revealed one side inner ear congenital malformation in one case and anterior fossa bony defect accompanied by labirynthine deformation in the other case. The presence of perilymphatic fistulae in oval and round windows and cerebrospinal fluid leakage has been confirmed in both cases during surgery. Carefull obliteration of the Eustachian tube and both windows has been performed. Non- complicated postoperative course (2 months and 6 years - respectively) has prooved the effectiveness of applied treatment.

  4. Congenital Portosystemic Shunt: Our Experience

    Tiziana Timpanaro


    Full Text Available 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.

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

    Edilberto de Araújo Filho


    types of major congenital malformations (MCM in liveborn children conceived by intracytoplasmic sperm injection (ICSI. METHODS: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 680 liveborn, 520 had been evaluated, 250 of them (48.1% through questionnaire and 270 (51.9% through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the c² test (level of significance p0.05, which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated, corresponding to 40% of the total. The other types of MCM were: renal (three, neural tube (two, skull (one, cleft lip (one, genital (one, Down syndrome (associated with cardiac malformations (two, and musculoskeletal (one. Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. CONCLUSION: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9% near to the expected for the general population (2.6%. However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.

  6. Vascular malformations in the maxillofacial region

    M. Jafari


    Full Text Available Congenital vascular lesions occur most often in children. Parents of these children take them to maxillofacial surgeons directly or during the treatment of other complications such as infection or jaw bone disorders. Various terms now used are unable to describe the pathogenesis and mechanism of the effect of vascular lesions on growth and development of facial bone.  Term of hemangioma is used in almost all cases of congenital and acquired vascular lesions, while fibrosis or shrinkage occurs in some of these lesions over the time. There is also some confusion in describing the vascular lesions which primarily affected bones and soft tissue vascular malformations associated with changes in hard tissues.

  7. Vertebral Pnomocyst

    Elif Karadeli


    Full Text Available The pneumatocyst in the spine is a rare condition and is usually discovered incidentally in patients being examined for unrelated problems. Intraosseous gas collection is occured in different pathologic conditions, containing osteomyelitis with gas-forming organisms, vertebral collapse due to osteonecrosis, and postoperative and posttraumatic conditions.  

  8. Congenital Hypothyroidism

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Pediatric Endocrine Society MedlinePlus (NIH) What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  9. Persistent congenital milia with naevus spilus

    Mishra Dharmendra


    Full Text Available We are reporting a case of solitary persistent left-sided endoareolar congenital milia in association with no serious malformation or abnormality of any structure except the presence of naevus spilus, on the back of the ipsilateral forearm.

  10. Congenital spine anomalies: the closed spinal dysraphisms

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


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

  11. Congenital anomalies after assisted reproductive technology

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


    Worldwide, more than 5 million children have been born after assisted reproductive technology (ART), and in many developed countries ART infants represent more than 1% of the birth cohorts. It is well known that ART children are at increased risk of congenital malformations even after adjustment ...

  12. Right congenital pleuro-peritoneal hiatus hernia

    Sankar DK


    Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.

  13. Perpetual dilemma: Pleural or parenchymal/congenital or acquired solitary cystic lesion with fluid level.

    Talwar, Deepak; Jha, Onkar; Sharma, Rahul Kumar; Saxena, Rajat


    Congenital cystic adenomatoid malformations (CCAMs) are rare congenital, nonhereditary developmental anomalies of the lung with unknown etiology. CCAM is predominantly a disorder of infancy with the majority of the cases being diagnosed within the first 2 years of life. When CCAM presents in adults, it represents a diagnostic dilemma and requires careful evaluation. We here report a case of large solitary congenital pulmonary cystic adenomatoid malformation with infection and hemorrhage, which was diagnosed as encysted hydropneumothorax on computerized tomography scans but turned out to be infected pulmonary cystic adenomatoid malformation after surgical excision.

  14. Congenital pouch colon: is it really a rare pathology?

    Atabek, Cüneyt; Demirbağ, Suzi; Sürer, Ilhami; Kocaoğlu, Murat; Ongürü, Onder; Calişkan, Bahadir; Oztürk, Haluk


    Congenital pouch colon is a condition of a shortened and pouch-like dilated colon and it is usually associated with an anorectal malformation. The pathogenesis and embryology of congenital pouch colon are not well understood, but dietary, environmental factors and familial inheritance may be contributing factors in this pathology. Most of the cases in the literature have been reported from India. This increased regional incidence may be attributed to the lack of awareness of this pathology or its mislabeling rather than regional distribution. Congenital pouch colon is classified into four types based on the length of the abnormal colon. A variable dilatation of the rectum and sigmoid is always present in anorectal malformation. However, there is no clear definition of a limit for the dilatation of the rectum and sigmoid observed in anorectal malformation. Furthermore, many surgeons do not routinely take a biopsy from a dilated rectum or sigmoid during a colostomy procedure in anorectal malformation cases. For these reasons, type IV congenital pouch colon can be easily underdiagnosed. Surgical treatment options in type IV congenital pouch colon include resection of the affected sites of the colon or excisional tapering coloplasty. In the undiagnosed cases, congenital pouch colon results in severe constipation and overflow incontinence. We herein report two additional new cases of type IV congenital pouch colon.

  15. Imaging features of ductal plate malformations in adults

    Venkatanarasimha, N., E-mail: [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)


    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.

  16. NMR imaging of the vertebral column and the spinal canal. 2. rev. and enl. ed.; MRT der Wirbelsaeule und des Spinalkanals

    Forsting, Michael [Universitaetsklinikum Essen (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie und Neuroradiologie; Uhlenbrock, Detlev [St.-Josefs-Hospital, Dortmund (Germany). MVZ Radiologie, Nuklearmedizin und Strahlentherapie; Wanke, Isabel [Privatklinikengruppe Hirslanden, Zurich (Switzerland); Universitaetsklinikum Essen (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie und Neuroradiologie


    The book on the MRT (magnetic resonance tomography) of the vertebral cord and spinal canal covers the following topics: physics fundamentals and application; malformation of the spinal canal; degenerative vertebral column diseases; vertebral column and spinal canal carcinomas; inflammatory diseases of the vertebral column and the spinal canal; applicability of MRT in case of acute spinal cord traumata; vascular diseases of the spinal canal.

  17. Development and Congenital Anomalies of the Pancreas

    Hiroyuki Tadokoro


    Full Text Available Understanding how the pancreas develops is essential to understand the pathogenesis of congenital pancreatic anomalies. Recent studies have shown the advantages of investigating the development of frogs, mice, and chickens for understanding early embryonic development of the pancreas and congenital anomalies, such as choledochal cysts, anomalous pancreaticobiliary junction, annular pancreas, and pancreas divisum. These anomalies arise from failure of complete rotation and fusion during embryogenesis. There are many theories in the etiology of congenital anomalies of the pancreas. We review pancreas development in humans and other vertebrates. In addition, we attempt to clarify how developmental failure is related to congenital pancreatic anomalies.

  18. [Prevention of congenital malformations by means of folic acid - insurmountable problems due to the German penal code and German drug legislation when preparing a preconceptional model in Saxony-Anhalt].

    Rösch, C; Steinbicker, V; Robra, B P; Kolbe, M; Heinrich, C


    For the last 20 years the prophylactic effect of the vitamin folic acid against the occurrence of neural tube defects has been known but in Germany this fact has not been realized by the public. The recommendations by medical institutions fail, among other reasons, because a folic acid prescription by gynaecologists comes too late in the course of events, i.e., women go to the gynaecologist when pregnancy has already set in and it is too late for preventive measures. An effective folic acid prophylaxis must take place before the onset of pregnancy. Data from the regional surveillance of congenital anomalies of the German Federal State of Saxony-Anhalt and interviews with women in maternity, as well as gynaecologists, indicate that there is a substantial knowledge deficit concerning folic acid prophylaxis. In 1998, therefore, a working group was set up in Saxony-Anhalt. It comprises representatives from interested institutions and has the goal of rectifying the knowledge deficit of women of childbearing age by way of a broad-based campaign while making use of the results of regional congenital anomalies monitoring. A pharmaceutical company was enlisted for cost-free distribution of its folic acid product. Legal problems with the prescription drug laws, the law against unfair competitive practices, the advertising of medicaments law and the SGB V (social code) made it impossible to procure multivitamins containing folic acid free of charge for women wanting a child. A highly differentiated legislation has hitherto prevented an elementary improvement in prevention.

  19. Vertebral chondroblastoma

    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)


    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

  20. 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

    Iêda Maria Ávila Vargas Dias


    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.

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

    Elaine Cristina Moreto Paccola


    Full Text Available A deficiência auditiva é um dos achados clínicos mais comuns em sujeitos com malformações de orelha. O tratamento consiste em realizar a cirurgia e/ou adaptar o aparelho de amplificação sonora por via óssea (AASI VO. A intervenção precoce é fundamental para favorecer a estimulação auditiva e desenvolvimento da fala e linguagem. OBJETIVO: Caracterizar o perfil audiológico de sujeitos com malformação congênita de orelha externa e/ou média e avaliar o benefício e a satisfação destes com o uso de AASI VO. MÉTODO: Estudo descritivo, sujeitos com malformações congênitas bilaterais de orelha externa e/ou média, deficiência auditiva condutiva ou mista, moderada ou grave e usuários de AASI VO. Avaliação do benefício utilizando teste de reconhecimento de sentenças com ruído competitivo e medidas de ganho funcional e avaliação da satisfação utilizando questionário internacional QI - AASI. RESULTADOS: Foram avaliados 13 sujeitos, sendo 61% do sexo masculino e 80% com deficiência auditiva condutiva moderada ou grave. Houve melhor desempenho na avaliação proposta na condição com AASI, quando comparada à condição sem AASI. CONCLUSÃO: Os AASI VO retroauriculares apresentaram vantagens para a população estudada e devem ser considerados como uma opção para intervenção. A satisfação foi confirmada pelos escores elevados obtidos no QI - AASI.Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO. Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To characterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle

  2. Building the Vertebrate Spine

    Pourquié, Olivier


    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

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

    Harry Mauricio Pachajoa Londoño


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

    Tomson, Torbjörn; Battino, Dina; Bonizzoni, Erminio


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

  5. Anorectal malformations and pregnancy-related disorders : a registry-based case-control study in 17 European regions

    Wijers, C. H. W.; van Rooij, I. A. L. M.; Bakker, M. K.; Marcelis, C. L. M.; Addor, M. C.; Barisic, I.; Beres, J.; Bianca, S.; Bianchi, F.; Calzolari, E.; Greenlees, R.; Lelong, N.; Latos-Bielenska, A.; Dias, C. M.; McDonnell, R.; Mullaney, C.; Nelen, V.; O'Mahony, M.; Queisser-Luft, A.; Rankin, J.; Zymak-Zakutnia, N.; de Blaauw, I.; Roeleveld, N.; de Walle, H. E. K.


    Objective To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs). Design A population-based case-control study. Setting Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008. Population The study populati

  6. Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions

    Wijers, C.H.W.; Rooij, I.A.L.M. van; Bakker, M.K.; Marcelis, C.L.M.; Addor, M.C.; Barisic, I.; Beres, J.; Bianca, S.; Bianchi, F.; Calzolari, E.; Greenlees, R.; Lelong, N.; Latos-Bielenska, A.; Dias, C.M.; McDonnell, R.; Mullaney, C.; Nelen, V.; O'Mahony, M.; Queisser-Luft, A.; Rankin, J.; Zymak-Zakutnia, N.; Blaauw, I. de; Roeleveld, N.; Walle, H.E. de


    OBJECTIVE: To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs). DESIGN: A population-based case-control study. SETTING: Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008. POPULATION: The study popu

  7. Giant Arteriovenous Malformation of the Neck

    P. A. Dieng


    Full Text Available Arteriovenous malformations (AVM have a wide range of clinical presentations. Operative bleeding is one of the most hazardous complications in the surgical management of high-flow vascular malformations. In the cervical region, the presence of vital vascular structures, such as the carotid artery and jugular vein, may increase this risk. This is a case of massive arteriovenous malformation deforming the neck and the face aspect of this aged lady and growing for several years. A giant mass of the left neck occupied the carotid region and the subclavian region. The AVM was developed between the carotid arteries, jugular veins, and vertebral and subclavian vessels, with arterial and venous flux. The patient underwent surgery twice for the cure of that AVM. The first step was the ligation of the external carotid. Seven days later, the excision of the mass was done. In postoperative period the patient presented a peripheral facial paralysis which completely decreased within 10 days. The first ligation of the external carotid reduces significantly the blood flow into the AVM. It permitted secondarily the complete ablation of the AVM without major bleeding even though multiple ligations were done.

  8. Rare malformation of glans penis: arteriovenous malformation.

    Akin, Y; Sarac, M; Yucel, S


    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

  9. Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report

    Luis Rafael Moscote-Salazar; Nasly Zabaleta-Churio; Gabriel Alcala-Cerra; Andres M. Rubiano; Willem Guillermo Calderon-Miranda; Hernando Raphael Alvis-Miranda; Amit Agrawal


    Chiari malformation Type I (CM-I) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. The real cause behind this malformation is still unknown. Patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. The objective of this case report is to give a broad perspective on CM-I from the clinical findings obtained in a patient with asymptomatic non-communicating syringomy...

  10. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series

    Niwa, Tetsu; Linda S de Vries; Manten, GTR; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko


    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often accompanied with malformations of cortical development (MCD). We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and MCD...

  11. Relationship of Ghrelin gene polymorphism with congenital anorectal malformation and Hirschsprung disease%Ghrelin基因多态性与先天性肛门直肠畸形和先天性巨结肠的关系

    高红; 王大佳; 赵相轩; 弭杰; 白玉作; 王维林


    Objective To explore the relationship of Ghrelin gene polymorphism with the occurrence of human anorectal malformations (ARMs) and Hirschsprung disease (HSCR). Methods PCR and DNA sequencing were used to detect the single nucleotide polymorphism (SNPs) of 3 loci (rs139684563, rs149447194, rs186599567) genotype of Ghrelin gene in 100 children with ARMs, 100 children with HSCR, and 100 healthy children (normal group). Genovariation and gene mutation were analyzed with case-control method. Results Three loci SNPs were in accordance with Hardy-Weinberg genetic equilibrium. No significant differences were found in rs139684563 allele and genotype frequencies between the cases and the normal groups (P>0.05). The allele and genotype frequencies of rs149447194 and rs186599567 were significantly different between cases and normal group (P0.05)。ARM和HSCR患儿rs149447194和rs186599567位点基因型分布及等位基因频率与正常小儿比较,差异均有统计学意义(均P0.05)。 DNA测序结果显示,ARM和HSCR患儿rs149447194和rs186599567位点均可检出有野生型纯合子缺失(分别为第176和191位碱基A缺失)﹔ARM患儿还可在rs149447194位点检出有单碱基替换(第194位密码子核苷酸CCT寅CTC)。结论 Ghrelin基因rs149447194和rs186599567两个位点的多态性改变可能与ARMs和HSCR的发生有关。

  12. 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

    Hugo André de Lima Martins


    Full Text Available 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% and 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.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.

  13. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    Tirth R. Patel


    Full Text Available Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient’s risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis.

  14. Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

    Krone, Nils; Reisch, Nicole; Idkowiak, Jan; Dhir, Vivek; Ivison, Hannah E.; Hughes, Beverly A.; Rose, Ian T.; O'Neil, Donna M.; Vijzelaar, Raymon; Smith, Matthew J.; MacDonald, Fiona; Cole, Trevor R.; Adolphs, Nicolai; Barton, John S.; Blair, Edward M.; Braddock, Stephen R.; Collins, Felicity; Cragun, Deborah L.; Dattani, Mehul T.; Day, Ruth; Dougan, Shelley; Feist, Miriam; Gottschalk, Michael E.; Gregory, John W.; Haim, Michaela; Harrison, Rachel; Olney, Ann Haskins; Hauffa, Berthold P.; Hindmarsh, Peter C.; Hopkin, Robert J.; Jira, Petr E.; Kempers, Marlies; Kerstens, Michiel N.; Khalifa, Mohamed M.; Koehler, Birgit; Maiter, Dominique; Nielsen, Shelly; O'Riordan, Stephen M.; Roth, Christian L.; Shane, Kate P.; Silink, Martin; Stikkelbroeck, Nike M. M. L.; Sweeney, Elizabeth; Szarras-Czapnik, Maria; Waterson, John R.; Williamson, Lori; Hartmann, Michaela F.; Taylor, Norman F.; Wudy, Stefan A.; Malunowicz, Ewa M.; Shackleton, Cedric H. L.; Arlt, Wiebke; Smith, M.J.


    Context: P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.

  15. A case report of corgenotal cystic adenomatoid malformation

    Jun, Soon Ae; Cha, Kyung Sub; Chi, Je Geun [Cha Women' s Hospital, Seoul (Korea, Republic of)


    Congenital cystic adnomatoid malformation (CCAM) is rare pulmonary cystic disease. CCAM has been detected on prematurity, stillborn and respiratory distress infant or child by chest X-ray film and CT scan. One case of CCAM diagnosed in utero at gestational age 22 weeks is reported with sonographic findings and autopsy findings. Ultrasonographic findings are large cystic lesion in fetal thorax and fetal hydrops without hydramnios. The survival of these infants is very poor despite accurate prenatal diagnosis and maximal postnatal care.

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

    Beslow, Lauren A.; Jordan, Lori C


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




    Full Text Available CONTEXT Anorectal malformation is a common congenital defect in children and its management has evolved over the years. Anterior sagittal approach is established as a popular technique for the correction of anovestibular fistula in children with anorectal malformations due to advancement of technology magnification, muscle stimulation and precise placement of the anal canal within the external sphincter complex. AIMS To study the outcome of anterior sagittal approach as single stage procedure for anorectal malformations in female children at tertiary care centre. SETTINGS AND DESIGN Paediatric Surgery Department, Gandhi Medical College, Bhopal. A retrospective analysis. METHODS 24 female patients with congenital anorectal malformation who underwent Anterior Sagittal Anorectoplasty (ASARP as a single stage procedure were reviewed. The surgical procedure and its outcome were evaluated. RESULTS There was no case that had significant haemorrhage during or after procedure; 4 cases had rent in the posterior vaginal wall which was managed adequately due to early detection. There were six cases with wound infection. One case had dehiscence; three cases developed constipation, which was managed with dilation and bowel training. CONCLUSION ASARP as a single stage procedure without colostomy cover should be considered as a preferable option for the management of anovestibular fistula in female children.

  18. Congenital Scoliosis (Mini-review).

    Weiss, Hans-Rudolf; Moramarco, Marc


    Congenital scoliosis is a lateral deformity of the spine with a disturbance of the sagittal profile caused by malformations of vertebra and ribs. Typically, early surgical intervention is the suggested treatment (before three-years-old) for young patients with congenital scoliosis. While a previous study was conducted in 2011 to investigate long-term studies supporting the necessity for this recommendation and no evidence was found, this current review, is an updated search for evidence published from 2011 through March 2015. This also failed to find any prospective or randomized controlled studies to support the hypothesis that spinal fusion surgery in patients with congenital scoliosis should be considered as evidence-based treatment. Contradictory results exist on the safety of hemivertebra resection and segmental fusion using pedicle screw fixation. When using the VEPTR (vertical expandable prosthetic titanium rib) device, studies show a high rate of complications exist. It is difficult to predict the final outcome for patients with congenital scoliosis. However, it is possible that many patients with congenital scoliosis may be able to avoid spinal surgery with the application of advanced bracing technology. Therefore, it is only prudent to advocate for conservative management first before spinal surgery is considered.


    Md. Khaleel


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

  20. Nursing care of congenital microtia malformation two stage auricular reconstruction%先天性小耳畸形二期法耳廓再造术的护理

    林美华; 王维; 王彪


    Objective To summarize the nursing experience of two-stage operation of auricular reconstruction in congenital microtia. Methods 103 cases of two-stage auricular reconstruction of microtia patientswith the assessment and care of the preoperative psychological status ,skin preparation and posture training.the postoperative observation and nursing of negative pressure drainage and local flap situations,the reconstructed ear and the rib cartilage donor. Results The surgical results were satisfactory to the patients and the irfa milies whose reconstructed ear had verisimilar shape. Conclusion The auricle reconstruction surgery is difficult.In addition to good prognosis is related with the technology level of the doctors,and the high quality nursing before and after operation,the coordination of the patients and their families have a close relationship.%目的:总结先天性小耳畸形二期法耳廓再造术的护理体会。方法:对103例行二期法耳廓再造术的小耳患者实施术前心理状况评估与护理,皮肤准备及体位训练等,术后做好负压引流及皮瓣的观察与护理,再造耳和肋软骨供区的局部护理。结果:再造耳解剖结构清晰,形态逼真,患者及家属对治疗效果满意。结论:耳廓再造手术难度大,良好的预后效果除与医生技术水平有关外,还与手术前后优质护理、患者及家属的高度配合密切相关。

  1. 新生儿先天性畸形伴染色体异常56例分析%Analysis of 56 congenital malformed neonates with Chromosomal abnormal

    李卓园; 李勇


    目的 研究新生儿先天性畸形的临床与染色体异常核型特征,为提高产前诊断提供依据.方法 采用常规外周血培养及制备染色体,G显带核型分析.结果 56例先天性畸形中,染色体异常以21-三体最为多见(40例占71.43%),其次有18-三体及13-三体,同时还发现一些罕见的染色体异常.临床上,常以特殊面容表现最为突出.同时先心、唇腭裂等较严重畸形在三体型中较为常见.结论 染色体异常所致胎儿特殊异常表现,重点心血管,唇腭裂检查是提高产前诊断检出染色体异常的重要依据.%Objective: To investigate the clinical manifestations of neonates and characteristics of its chromosomal abnormal so as to supply reference for prenatal diagnosis. Methods: Chromosome preparations were made from peripheral blood lymphocytes. Karyotypes were analyzed by G - banding technique. Results: Among 56 cases, 40 cases were found having trisomy 21 ( 71.43% ), others were trisomy 18, trisomy 13 and infrequent chromosomal abnormal. The patients mainly presented unusual appearance, congenital heart disease and cheilopalatognathus. Conclusion: Examination of cardiovascular diagnosis and cheilopalatognathus can enhance prenatal diagnosis for Chromosomal abnormal.

  2. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series.

    Niwa, Tetsu; de Vries, Linda S; Manten, Gwendolyn T R; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko


    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often accompanied with malformations of cortical development (MCD). We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and MCD: two infants with nodular interhemispheric lipoma, agenesis of the corpus callosum, and polymicrogyria, and one infant with interhemispheric curvilinear lipoma, hypoplasia of the corpus callosum, and heterotopias. An association was suggested regarding the occurrence of these malformations.

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

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


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

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

    Pandey Anand


    Full Text Available 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 relevant literature is included. Conclusion Delayed presentation of a patient with high anorectal malformation is rare. The appropriate treatment can be rewarding.

  5. Microtia and congenital aural atresia.

    Genc, Selahattin; Kahraman, Erkan; Ozel, Halil Erdem; Arslan, Ilker Burak; Demir, Ahmet; Selcuk, Adin


    The purpose of this study was to show the clinical characteristics of microtia and congenital aural atresia cases in Turkey and to make the classification. For this purpose, records of 28 patients with microtia who were admitted to the ENT Clinic of Eskisehir Military Hospital, Turkey, between 1995 and 2011 and 3 patients admitted to the ENT outpatient clinic of Kocaeli Derince Education and Research Hospital, Turkey, were analyzed retrospectively. Of the total 31 patients with microtia (35 microtic ears), involvement of the right ear of 20 patients (64.5%), the left ear of 7 patients (22.5%), and bilateral involvement in 4 patients (12.9%) were observed. There was a unilateral involvement in 27 patients (87.1%). According to the Marx grading, 2 patients (5.7%) had grade 1 malformation, 3 (8.6%) had grade 2 malformation, 29 (82.9%) had grade 3 malformation, and 1 (2.9%) had grade 4 malformation (anotia). Although the characteristics of microtia vary in different population, the results in Turkey are consistent with those in the literature.

  6. 内耳不完全分隔Ⅱ型畸形并自发性脑脊液耳漏的 CT、MRI 诊断价值%CT and MRI diagnostic value of the congenital inner ear malformation incomplete partition type Ⅱdeformity combined with spontaneous CSF otorrhea

    董燕; 董季平; 杨军乐; 杨想春; 党珊; 刘润


    目的:探讨先天性内耳不完全分隔Ⅱ型畸形(Mondini 畸形)并脑脊液耳漏的高分辨 CT(HRCT)及 MRI 诊断价值。方法回顾性分析本院3例先天性内耳不完全分隔Ⅱ型畸形合并脑脊液耳漏,同时并发反复发作脑膜炎患者的影像学资料,包括HRCT 多平面重组(MPR)、曲面重组(CPR)图像及 MR 内耳水成像图像,观察病变侧内、中耳各解剖结构的形态,总结分析本病的临床及影像学特征。结果1例患者双侧发病,伴半规管发育不全,蜗水管扩大。2例患者为单侧发病,其中1例合并同侧面神经管发育不良。3例患者均有镫骨底板菲薄,内听道底缺损。结论内耳不完全分隔Ⅱ型畸形合并脑脊液耳漏,并发脑膜炎时, HRCT 及后处理、MR 检查可显示内耳、中耳精细的解剖结构,并清晰显示瘘口情况,对该病的诊断具有重要价值。%Objective To discuss the diagnostic value of high resolution computed tomography (HRCT)and MRI in the congenital inner ear malformation incomplete partition type Ⅱ deformity(Mondini deformity)combined with spontaneous cerebrospinal fluid (CSF)otorrhea.Methods The imaging data including the multiplanar reformation(MPR)images of HRCT,curved planar reforma-tion(CPR)images and MR hydrography images in three patients complicated with recurrent meningitis were retrospectively ana-lyzed.The anatomic changes of the inner ear and middle ear on the affected side were observed,the clinical and imaging features of this disease were summarized.Results One patient had bilateral incidence of the incompletely separated inner ear,combined with semicircular canal dysplasia and cochlear pipe dilation.Two patients had unilateral onset,one of them had concurrent facial nerve ca-nal dysplasia.Humble stapes floor and the defect of the bottom of the internal auditory canal were seen in all the three patients.Con-clusion HRCT with post-processing technology,and MRI have great

  7. 京郊部分牛场荷斯坦母牛脊椎畸形综合征(CVM)遗传缺陷检测%Identiifcation of Complex Vertebral Malformation (CVM) Carriers in Holstein Cows from Suburban Farms in Beijing

    唐韶青; 梁若冰; 云鹏; 杨宇泽; 肖炜; 孙东晓


    Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the 4 extron in bovine solute carrier family 35, member 3 gene (SLC35A3). Homozygous recessive can cause early pregnancy abortion, stillbirth, or cow calf birth deformities, but carriers are normal. Polymerase chain reaction–primer introduced restriction analysis (PIRA-PCR) was used to detect CVM among 552 Holstein cows from Beijing. As a result, a total of 21 CVM carriers were identiifed. The frequency of carriers was 3.80% and the recessive allele frequency of CVM was 1.90%. Our pedigree studies of the carrier cattle in this experiment revealed that, out of 21 CVM carriers, 13 ones inherited mutation from those mothers and 15 ones were found to be the offspring of Carlin-M Ivanhoe Bell (USA1667366). Based on this, in our country, it is necessary to detect CVM among Holstein cows to prevent the CVM carriers mating and reduce economic losses.%牛脊椎畸形综合征(CVM)是由牛3号染色体上SLC35A3基因第4外显子上的G/T突变引起的隐性遗传疾病,其隐性纯合子可以造成母牛妊娠早期流产、死胎或出生犊牛畸形,而CVM携带者表型正常,无发病表现。本研究利用PIRA-PCR方法对北京地区552头母牛样本进行了检测分析。研究结果表明,所检测的样本中,荷斯坦母牛CVM携带者为21头,携带率为3.80%,有害基因频率为1.90%。通过系谱分析,其中13头携带者的致病基因来源于其母亲,15头CVM携带者为Carlin-MIvanhoeBell(USA1667366)的后代。因此,牛场应当开展母牛CVM筛查,防止CVM携带个体之间的交配,减少经济损失。

  8. Familial Chiari malformation: case series.

    Schanker, Benjamin D; Walcott, Brian P; Nahed, Brian V; Kahle, Kristopher T; Li, Yan Michael; Coumans, Jean-Valery C E


    Chiari malformations (Types I-IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%-0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.

  9. Thoracic skeletal defects and cardiac malformations: a common epigenetic link?

    Weston, Andrea D; Ozolins, Terence R S; Brown, Nigel A


    Congenital heart defects (CHDs) are the most common birth defects in humans. In addition, cardiac malformations represent the most frequently identified anomaly in teratogenicity experiments with laboratory animals. To explore the mechanisms of these drug-induced defects, we developed a model in which pregnant rats are treated with dimethadione, resulting in a high incidence of heart malformations. Interestingly, these heart defects were accompanied by thoracic skeletal malformations (cleft sternum, fused ribs, extra or missing ribs, and/or wavy ribs), which are characteristic of anterior-posterior (A/P) homeotic transformations and/or disruptions at one or more stages in somite development. A review of other teratogenicity studies suggests that the co-occurrence of these two disparate malformations is not unique to dimethadione, rather it may be a more general phenomenon caused by various structurally unrelated agents. The coexistence of cardiac and thoracic skeletal malformations has also presented clinically, suggesting a mechanistic link between cardiogenesis and skeletal development. Evidence from genetically modified mice reveals that several genes are common to heart development and to formation of the axial skeleton. Some of these genes are important in regulating chromatin architecture, while others are tightly controlled by chromatin-modifying proteins. This review focuses on the role of these epigenetic factors in development of the heart and axial skeleton, and examines the hypothesis that posttranslational modifications of core histones may be altered by some developmental toxicants.

  10. Endocrine disruptors and congenital anomalies

    Mônica Rittler


    Full Text Available The specialized literature was reviewed concerning the suspected increasing secular trends in the frequency of female births, male genital congenital anomalies, abnormal sperm counts, and testicular cancer. Although no risk factors could be identified yet, the observed sex ratio decline during the last decades has been considered to be an effect of certain pollutants on normal hormone activity, and human reproductive development. Reported increasing trends in the frequencies of hypospadias and cryptorchidism are very difficult to be interpreted due to the large variability in the registered frequency of these malformations due to operational as well as biological reasons.

  11. [Genetics of congenital deafness].

    Faundes, Víctor; Pardo, Rosa Andrea; Castillo Taucher, Silvia


    Congenital deafness is defined as the hearing loss which is present at birth and, consequently, before speech development. It is the most prevalent sensor neural disorder in developed countries, and its incidence is estimated between 1-3 children per 1,000 newborns, of which more than 50% are attributable to genetics causes. Deafness can be classified as syndromic or non-syndromic. In the first case, it is associated with outer ear malformations and/or systemic findings. More than 400 syndromes accompanied of deafness have been described, which represent about 30% of cases of congenital hearing loss. The remaining percentage corresponds to non-syndromic cases: 75-85% are autosomal recessive, 15-24% are autosomal dominant, and 1-2% are X-linked. The evaluation of a child with deafness requires a multidisciplinary collaboration among specialists, who must coordinate themselves and give information to the affected family. The aims of establishing a diagnosis are to predict other manifestations that may suggest some syndrome and to anticipate their management, as well as to perform genetic counseling to parents and affected individuals.

  12. Congenital peritoneal encapsulation

    Diana; Teixeira; Vítor; Costa; Paula; Costa; Carlos; Alpoim; Pinto; Correia


    Peritoneal encapsulation(PE) is a rare congenital malformation, characterized by a thin accessory peritoneal membrane which covers all or part of the small bowel, forming an accessory peritoneal sac. Most cases areasymptomatic and diagnosed incidentally during surgery and/or autopsy. Clinical presentation with intestinal obstruction is extremely rare and we report a case. A 25-year-old male, referred to emergency department with diffuse abdominal pain, crampy, with 8 h evolution, associated with nausea, vomiting and constipation in the last 48 h. The abdominal examination revealed an asymmetric and fixed distension, with hard consistency on palpation of lower abdominal quadrants. The abdominal radiography reveals a small bowel distension and fluid levels. Submitted to laparoscopic surgery that recourse to conversion because there is a total peritoneal encapsulation of the small bowel. After opening the peritoneal sac, we find a rotation of mesentery, at its root, conditioning twisting of small bowel and consequently occlusion. Uneventful postoperative with discharged at the 6th day. The PE is a very rare congenital anomaly characterized by abnormal bowel back into the abdominal cavity in the early stages of development. Your knowledge becomes important because, although rare, it might be diagnosis in patients with intestinal obstruction, in the absence of other etiologic factors.

  13. Congenital aplasia of the optic chiasm and esophageal atresia: a case report

    Madonia Maurizio


    Full Text Available Abstract Introduction The complete absence of the chiasm (chiasmal aplasia is a rare clinical condition. Hypoplasia of the optic nerve and congenital nystagmus are almost invariably associated characteristics. Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent. Esophageal atresia can be isolated or syndromic. In syndromic cases, it is frequently associated with cardiac, limb, renal or vertebral malformations and anal atresia. More rarely, esophageal atresia can be part of anophthalmia-esophageal-genital syndrome, which comprises anophthalmia or microphthalmia, genital abnormalities, vertebral defects and cerebral malformations. Here, a previously unreported case of chiasmal aplasia presenting without microphthalmos and associated with esophageal atresia is described. Case presentation Aplasia of the optic chiasm was identified in a Caucasian Italian 8-month-old boy with esophageal atresia. An ultrasound examination carried out at 21 weeks' gestation revealed polyhydramnios. Intrauterine growth retardation, esophageal atresia and a small atrial-septal defect were subsequently detected at 28 weeks' gestation. Repair of the esophageal atresia was carried out shortly after birth. A jejunostomy was carried out at four months to facilitate enteral feeding. The child was subsequently noted to be visually inattentive and to be neurodevelopmentally delayed. Magnetic resonance imaging revealed chiasmal aplasia. No other midline brain defects were found. His karyotype was normal. Conclusion If achiasmia is a spectrum, our patient seems to depict the most severe form, since he appears to have an extremely severe visual impairment. This is in contrast to most of the cases described in the literature, where patients maintain good--or at least useful-- visual function. To the best of our knowledge, the association of optic nerve hypoplasia, complete chiasmal aplasia, esophageal

  14. Congenital syphilis

    Congenital syphilis is caused by the bacteria Treponema pallidum , which is passed from mother to child during fetal development or at birth. Nearly half of all children infected with syphilis while they ...

  15. [Congenital thrombophilia].

    Kojima, Tetsuhito


    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin.

  16. Congenital Palatal Fistula Associated with Submucous Cleft Palate

    Eshete, Mekonen; Camison, Liliana; Abate, Fikre; Hailu, Taye; Demissie, Yohannes; Mohammed, Ibrahim; Butali, Azeez; Losken, H. Wolfgang; Spiess, Alexander M.


    Background: Although cleft lip and cleft palate are among the most common congenital malformations, the presence of an isolated congenital palatal fistula along with a submucous cleft is very rare. This appears as an oval-shaped, full-thickness fenestration in the palatal midline that does not fully extend anteriorly or posteriorly, accompanied by the findings of a submucous cleft. Because of the uncommon nature of this entity, there is controversy about its etiology, diagnosis, and managemen...

  17. Homocysteine related Nutritional and Genetic Risk Factors for Human Congenital Heart Defects

    A.C. Verkleij-Hagoort (Anna)


    textabstractCongenital heart defects (CHDs) belong to the most common group of major congenital malformations in newborns. Most CHDs are considered complex diseases with a multifactorial aetiology, which are thought to result from interactions between genetic and environmental factors. This thesis p

  18. The origin of congenital heart defects and the epigenetic programming of the healthy child

    S.A. Obermann-Borst (Sylvia)


    textabstractBirth defects are a global burden affecting 7% of births worldwide. Congenital heart defects (CHD) are the most common congenital malformation with approximately 1 million children born each year. It is not only the most frequent group of birth defects in human, but also the leading caus

  19. Cochlear implantation in congenital cochlear abnormalities.

    Ahmad, R L; Lokman, S


    Many children have benefited from cochlear implant device including those with congenital malformation of the inner ear. The results reported in children with malformed cochlea are very encouraging. We describe 2 cases of Mondini's malformation with severe sensorineural hearing loss. Cochlear implantation was performed and both of them underwent post-implantation speech rehabilitation. Post-implantation, both of them were noted to respond to external sound. But the second case developed facial twitching a few months after the device was switched on. It is important to evaluate the severity of the inner ear deformity and the other associated anomalies in pre-implantation radiological assessment in order to identify the problem that may complicate the surgery and subsequent patient management.

  20. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series

    Niwa, Tetsu; de Vries, Linda S.; Manten, GTR; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko


    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often acco

  1. Is there an association between maternal carbamazepine use during pregnancy and eye malformations in the child?

    Kroes, HY; Reefhuis, J; Cornel, MC


    Purpose: To check for an association between carbamazepme (CBZ) use by the mother during pregnancy and congenital eye malformations (i.e., anophthalmia, microphthalmia, and coloboma) in the child, as suggested by Sutcliffe et al. (1998), who reported four cases. Methods: We checked all the cases wit


    马水清; 边旭明; 郎景和


    Objective. To analyze the clinical characteristics of fertility and pregnancy in women with congenital uterine malformations and explore optimal treatments to improve the prognosis.Methods. A retrospective study was conducted on the fertility and obstetric outcome in 153 patients with uterine malformations treated in our hospital from January 1984 to December 1998. Twenty - seven cases with other kinds of genital and/or urinary anomalies but with normal uterus during the same period were enrolled as the control group.Results. The infertility rate was 26.6% (34/128), the miscarriage rate 44.3% (86/194), premature birth rate 9.3% (18/194), abnormal fetal presentation rate 28.4% (29/102), the cesarean section rate 61.8% (63/102), and the perinatal mortality rate 11.8% (12/102).Conclusion. Women with congenital uterine malformation usually have higher incidence of infertility and complications during pregnancy and delivery. Bicornuate and septate uterus can be associated with poor obstetric outcome.

  3. Congenital tumors of the central nervous system

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


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

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

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


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

    Daniel Krebs


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

  6. Classification and diagnosis of ear malformations

    Bartel-Friedrich, Sylva; Wulke, Cornelia


    In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90%) and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations) or acquired in nature. Malformations can affect the outer ear (pinna and externa...

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

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


    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.

  8. Anorectal malformations : A multidisciplinary approach

    D. van den Hondel (Desiree)


    markdownabstractAbstract The research described in this thesis was performed with the aim to evaluate and improve multidisciplinary treatment of anorectal malformation patients. An overview of current literature on treatment of anorectal malformations is given in the Preface section, which also inc

  9. Variations of Developing Conduction System in Bis-diamine Induced Malformed Rat Heart Recognized by HNK-1 Immunohistochemistry

    Ohtani, Hiroshi


    To clarify the abnormal development of the cardiac conduction system in congenital heart anomalies, HNK-1 distribution of bis-diamine induced malformed hearts was studied in rat embryos. All the embryos showed not only conotruncal anomalies, such as persistent truncus arteriosus (PTA) and pulmonary hypoplasia with overriding aorta (comparable to tetralogy of Fallot), but also incomplete absorption of sinus venosus. In the malformed hearts, the middle internodal tract passing through the dorsa...

  10. Congenital varicella syndrome in a monochorionic diamniotic twin pregnancy

    Vania A Villota


    Full Text Available Congenital varicella syndrome encompasses a broad spectrum of malformations present in children of mothers who developed chickenpox during the first 20 weeks of gestation. We report a case of a monochorionic diamniotic twin pregnancy, with maternal exposure to chickenpox during the thirteenth week of gestation, which produced one symptomatic and one healthy child.

  11. Congenital monomelic muscular hypertrophy of the upper extremity.

    Gilhuis, H.J.; Zophel, O.T.; Lammens, M.M.Y.; Zwarts, M.J.


    Pathological muscular hypertrophy results from either muscular or neurogenic damage. Rarely, it is caused by a congenital malformation consisting of a unilateral muscular hyperplasia of the upper extremity. We report on a young woman with an enlargement of the right upper extremity. Electromyography

  12. Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark

    Roos, Laura; Jensen, Hanne; Grønskov, Karen;


    PURPOSE: This study aims to quantify the occurrence of the congenital eye malformations anophthalmia (AO), microphthalmia (MO) and coloboma among liveborn infants in Denmark, and to estimate the rate of chromosomal abnormalities in this group of patients. METHODS: A cohort of patients born in 1995...

  13. Cochlear implantation in inner ear malformations--a review article.

    Sennaroglu, Levent


    Inner ear malformations constitute about 20% of congenital sensorineural hearing loss. In this review article an updated classification of cochlear malformations is provided. Incomplete partition and cochlear hypoplasia cases are each divided further into three groups. There are two main difficulties in the surgery of inner ear malformations; gusher and facial nerve abnormalities. Radiological features of malformations necessary to identify these problems preoperatively are discussed. Facial nerve abnormalities that may occur are described. Two different types of cerebrospinal fluid leakage are defined and necessary measures to prevent leakage are described. Standard and modified surgical approaches to overcome the described problems are described with literature findings. Finally meningitis which may occur with and without cochlear implantation in this special group of patients is emphasized. This is common in incomplete partition type I patients and is usually due to a fistula in one of the windows (usually oval window) which occurs as a result of cerebrospinal fluid pressure. This is a medical emergency leading to potential meningitis and measures that should be taken to stop the leak as soon as possible are described.

  14. Temperament profiles of children with vein of Galen malformations.

    Nass, R; Melnick, J; Berenstein, A


    Unlike many brain injured children who are often rather difficult, toddlers and school-aged children with congenital vein of Galen malformations (n = 20; age range, 4 months to 12 years with a mean of 4 years) evidence a relatively positive temperament profile (based on the Temperament Scales of Carey, McDevitt, Fullard, Hegvik, Medoff-Cooper). They do not, however, differ from normal children with regard to the frequency of easy, difficult, slow to warm up, and intermediate temperament clusters. The temperament profile of children with vein of Galen malformations appears unaffected by additional neurologic abnormalities (hydrocephalus, abnormal developmental quotient, seizure disorder, focal cortical lesions) or other factors including age at testing, sex, or socioeconomic status. Contrary to the findings in adults of right hemisphere dominance for attention, presence of additional right-sided focal cortical pathology was not associated with greater activity level, distractibility, or impersistence. In contrast to the findings in adults and children of right hemisphere dominance for emotions in general, children with vein of Galen malformations and additional right hemisphere cortical damage are not more difficult than those with additional left cortical pathology or no additional focal cortical pathology. The fact that the pathology in vein of Galen malformations is subcortical may explain their relatively easier temperament and the absence of lateralization effects.

  15. [Congenital epulis].

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P


    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  16. Congenital amusias.

    Tillmann, B; Albouy, P; Caclin, A


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

  17. Bilateral s-shaped kidneys: A rare congenital malformation

    Nikhil Ranjan


    Full Text Available A bilateral S-shaped kidney is a rare anomaly in which both the kidneys are in their normal position, in contrast to the commonly reported S-shaped fusion anomaly, in which the contralateral kidney crosses the midline to fuse with opposite kidney leaving the ipsilateral renal fossa empty. Here we present the diagnosis and management of a case of bilateral S-shaped renal anomaly with associated left pelviureteric junction obstruction and nonfunctioning kidney and right renal stones. Left kidney was managed by open nephrectomy and right kidney by PNL.

  18. Prenatal diagnosis of congenital malformations in 500 pregnancies

    Leschot, N.J.; Treffers, P.E.; Verjaal, M.; Weduwen, J.J. der; Bennebroek Gravenhorst, J.; Coelingh Bennink, H.J.T.


    The organization, techniques used and diagnostic findings of 500 prenatal diagnoses are reported in detail. In 15 cases the pregnancy was terminated because of abnormal laboratory findings. Follow-up of the remaining pregnancies revealed a perinatal mortality of 1.7%, and the risk of an abortion ind

  19. Acquired Chiari malformation secondary to atlantoaxial vertical subluxation in a patient with rheumatoid arthritis combined with atlanto-occipital assimilation.

    Kimura, Yuiko; Seichi, Atsushi; Gomi, Akira; Kojima, Masahiro; Inoue, Hirokazu; Kimura, Atsushi


    A 65-year-old woman with a history of rheumatoid arthritis presented with a rare case of acquired Chiari malformation secondary to atlantoaxial vertical subluxation, associated with congenital atlanto-occipital assimilation. Syringomyelia and tetraparesis improved immediately after posterior fossa decompression and simultaneous occipito-cervical junction fusion. The progression of acquired Chiari malformation is not well known. We concluded that coexisting assimilation accelerated crowded foramen magnum following atlantoaxial vertical subluxation and induced acquired Chiari malformation over the course of a few years.

  20. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

    Gripp, Karen W; Adam, Margaret P; Hudgins, Louanne; Carey, John C


    The 36th Annual David W Smith Workshop on Malformations and Morphogenesis was held on August 14-19, 2015 at the Harbourtowne Conference Center in St. Michaels Maryland. The Workshop, which honors the legacy of David W Smith, brought together over 120 clinicians and researchers interested in congenital malformations and their underlying mechanisms of morphogenesis. As is the tradition of the meeting, the Workshop highlighted five themes besides mechanisms of morphogenesis: Rasopathies, Eye Malformations, Therapeutics, Prenatal Diagnosis, and Disorders of Sex Development. This Conference Report includes the abstracts presented at the 2015 Workshop. © 2016 Wiley Periodicals, Inc.

  1. [Aftereffects of congenital infections in infants].

    Burdzenidze, E; Zhvania, M


    Congenital infections are among the most pressing health care problems. Congenital infections are not reason of congenital malformation and perinatal mortality only, but also pathologies that can be revealed during first year of life. Frequency for congenital viral infection displayed from birth varies between 23% and 92%. The aim of the study was the investigation of inherent infection consequences (citomegaloviral infection, herpes infection and chlamidia) in children in different age groups. Under our observation were 81 children with congenital infections. Among them 29 were with citomegaloviral infection, 17 with herpes infection; 15 chlamidia infection and 22 infections mix (citomegalovirus + herpes, citomegalovirus + chlamidia and chlamidia + herpes). In all observed children neurological simptomatic such as neuro-reflectory hyperexcitability syndrom, hypertension-hydrocephalic syndrom, musculary dystonia syndrom, hydrocephaly, retardation of psychomotor development etc. were present. After birth the worst prevalent are pathologies of cardiovascular system: functional cardiopathy, carditis, congenital heart disease (among them multivalvular disease), affection of hepatobilliar system, organs of vision and hearing etc are present also.

  2. Eruption of blood: Arteriovenous malformation of the penile urethra

    White, Joshua T.; Baverstock, Richard J.


    While arteriovenous malformations (AVMs) are a common congenital or post-traumatic abnormality, male genital AVMs are rare and have been described in the scrotum or penis in pediatric patients.1,2 We describe a 34-year-old male presenting with recurrent spontaneous penile urethral bleeding found to have an AVM of the penile urethra. While angiography has traditionally been helpful, magnetic resonance imaging (MRI) can aid in the diagnosis and characterization of these lesions.3 Each case of male genital AVM provides a unique challenge to manage depending on the presenting complaint, as there are no guidelines to direct treatment.4 PMID:28163810

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

    Hikmet Tekin Nacaroğlu


    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

  4. Evaluation of congenital heart disease by magnetic resonance imaging

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


    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.)

  5. Congenital Hydrocephalus.

    Estey, Chelsie M


    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure.

  6. [Congenital aniridia].

    Chiruţa, Daria; Stan, Cristina


    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  7. Congenital Thrombocytopenia



    @@ Platelets are essential for normal hemostasis.Platelets adhere to damaged blood vessels, and then aggregate and promote activation of coagulation factors, resulting to ceasing bleeding.Both quantitative and qualitative abnormalities of platelets can cause bleeding problems.Among them, immune thrombocytopenias are the most common conditions.However, congenital thrombocytopenias are often neglected because of their relative rarity and complex laboratory tests.That causes misdiagnosis and unnecessary and potentially harmful treatments for many patients.

  8. [Congenital ranula].

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel


    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  9. Congenital Diaphragmatic Hernia


    Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is < 5 in 10,000 live-births. The etiology is unknown although clinical, genetic and experimental evidence points to disturbances in the retinoid-signaling pathway during organogenesis. Antenatal diagnosis is often made and this allows prenatal management (open correction of the hernia in the past and reversible fetoscopic tracheal obstruction nowadays) that may be indicated in cases with severe lung hypoplasia and grim prognosis. Treatment after birth requires all the refinements of critical care including extracorporeal membrane oxygenation prior to surgical correction. The best hospital series report 80% survival but it remains around 50% in population-based studies. Chronic respiratory tract disease, neurodevelopmental problems, neurosensorial hearing loss and gastroesophageal reflux are common problems in survivors. Much more research on several aspects of this severe condition is warranted. PMID:22214468

  10. Imaging of vertebral fractures

    Ananya Panda


    Full Text Available 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 fracture increases the chance of fracture in another vertebra and also increases the risk of subsequent hip fracture. Early detection can lead to immediate therapeutic intervention improving further the quality of life. So, in this review, we wish to present a comprehensive overview of vertebral fracture imaging along with an algorithm of evaluation of vertebral fractures.

  11. MRI of cardiovascular malformations

    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


    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.)

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

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


    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.

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

    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)


    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.

  14. High resolution computed tomography for malformations of the cochlear and vestibular organs

    Koester, O.; Straehler-Pohl, H.J.; Kim, K.H.


    Twenty-one patients with congenital deformities of the petrous bones were examined by high resolution computed tomography. This allows an accurate description of the extent of the malformation in all parts of the cochlear and vestibular organs; only localised changes in the auditory ossicles, such as fixation of the stapes and changes in the soft tissue portions of the labyrinth, cannot be shown. Improved demonstration of soft tissues while using less radiation makes high resolution CT preferable to conventional polytomography. It is also easier to perform and provides axial projections which are essential for the elucidation of malformations of the middle and inner ear.

  15. Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report.

    Moscote-Salazar, Luis Rafael; Zabaleta-Churio, Nasly; Alcala-Cerra, Gabriel; M Rubiano, Andres; Calderon-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Agrawal, Amit


    Chiari malformation Type I (CM-I) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. The real cause behind this malformation is still unknown. Patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. The objective of this case report is to give a broad perspective on CM-I from the clinical findings obtained in a patient with asymptomatic non-communicating syringomyelia associated with a CM-I exacerbated within 2 years of a TBI, and to discuss issues related to that condition.

  16. Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report

    Luis Rafael Moscote-Salazar


    Full Text Available Chiari malformation Type I (CM-I is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm below the foramen magnum with or without syringomyelia. The real cause behind this malformation is still unknown. Patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. The objective of this case report is to give a broad perspective on CM-I from the clinical findings obtained in a patient with asymptomatic non-communicating syringomyelia associated with a CM-I exacerbated within 2 years of a TBI, and to discuss issues related to that condition.

  17. CT and MR imaging of congenital abnormalities of the inner ear and internal auditory canal

    Casselman, Jan W. E-mail:; Offeciers, Erwin F.; Foer, Bert de; Govaerts, Paul; Kuhweide, Rudy; Somers, Thomas


    The embryology of the inner ear must be known as many of the inner ear malformations present as a result of the arrest during the various stages of embryology. These malformations are described in this 'embryologic' perspective and specific names for certain malformations are no longer used. Both CT and MR can be used to look at inner ear malformations but often both techniques are complementary. However, CT is preferred when associated middle- or external ear malformations must be excluded. Magnetic resonance is preferred when subtle changes in the membranous labyrinth or abnormalities of the nerves in the internal auditory canal must be visualised. The CT and MR technique must however be adapted as more and more subtle congenital malformations can only be seen when the right technique is used. The heavily T2-weighted gradient-echo or fast spin-echo MR techniques are mandatory if malformations of the inner ear must be excluded. The purpose of this paper is to describe the techniques used to study these patients and to give an overview of the most frequent and important congenital malformations which can be found in the inner ear and internal auditory canal/cerebellopontine angle.

  18. A unique de novo interstitial deletion of chromosome 17, del(17)(q23.2q24.3) in a female newborn with multiple congenital anomalies

    Levin, M.L.; Shaffer, L.G.; Lewis, R.A. [Baylor College of Medicine, Houston, TX (United States)] [and others


    Contiguous gene or microdeletion syndromes occurring on chromosome 17p include the Smith-Magenis and Miller-Dieker syndromes associated with interstitial deletions of 17p11.2 and 17p13.3, respectively. Other cytogenetically visible interstitial deletions on chromosome 17 are quite rare or unique. We describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del(17)(q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. We have compared our patient`s phenotype and karyotype to two reported patients with deletion 17q with minor clinical overlap. The most striking clinical features of this patient were severe intrauterine growth retardation, widespread skeletal malformations (split sutures, hypoplastic acetabulae and scapulae, vertebral anomalies, and digital hypoplasia), cutis verticis gyrata, dysmorphic facial features, and oropharyngeal malformations (absent uvula and submucous cleft palate). Mild congenital heart disease and anomalous optic nerves were also present. Parental karyotyps were normal. DNA from parents and patient has been collected and cell lines established on both parents. Genes which have been previously mapped to the region that is apparently deleted in this patient include: chorionic somatomammotropin A, growth hormone (normal), acid alpha-glucosidase, apolipoprotein H, and the alpha peptide of type 4 voltage gated sodium channel. As in other clinical cytogenetic syndromes, further descriptions of patients with similar or overlapping rearrangements in this region will be necessary to delineate genotype/phenotype correlations for chromosome 17.

  19. Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography

    Deniz, Engin; Jonas, Stephan; Hooper, Michael; N. Griffin, John; Choma, Michael A.; Khokha, Mustafa K.


    Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease. Here, we coupled the frog Xenopus tropicalis with Optical Coherence Tomography (OCT) to create a fast and efficient system for testing craniocardiac candidate genes. OCT can image cross-sections of microscopic structures in vivo at resolutions approaching histology. Here, we identify optimal OCT imaging planes to visualize and quantitate Xenopus heart and facial structures establishing normative data. Next we evaluate known human congenital heart diseases: cardiomyopathy and heterotaxy. Finally, we examine craniofacial defects by a known human teratogen, cyclopamine. We recapitulate human phenotypes readily and quantify the functional and structural defects. Using this approach, we can quickly test human craniocardiac candidate genes for phenocopy as a critical first step towards understanding disease mechanisms of the candidate genes. PMID:28195132

  20. Congenital scoliosis: an up-to-date.

    Burnei, G; Gavriliu, S; Vlad, C; Georgescu, I; Ghita, R A; Dughilă, C; Japie, E M; Onilă, A


    Congenital scoliosis represents a spinal malformation due to defects of formation, segmentation or mixed ones. It is characterized by a longitudinal and rotational imbalance. 54 patients were analyzed and 39 out of them were operated by various approaches with anterior and posterior instrumentations during 2000 and 2012. The impossibility to appoint some patients encountered in the daily practice into the known classifications, allowed us to purpose two categories of congenital scoliosis related to the predominance of spinal deviances in the coronal and transversal views. No certain etiology of congenital scoliosis has been identified until today. The susceptibility of some polygenic defects is obvious due to the presence of a sum of defects associated to most of the congenital scoliosis cases and the rarity of the presence of a unique defect. The diagnosis requires a thorough clinical and imaging examination in order to establish an individualized therapeutic strategy. The treatment of congenital scoliosis is different from the adolescent idiopathic one. Therapeutic criteria are significantly different. It is essential to assess the difference in growth of the concavity related to the convexity when choosing a particular procedure. The magnitude of the curve and the progressive rate are fundamental issues to the surgeon.

  1. Predictive value of nuchal translucency thickness and blood flow spectrum of ductus venous for fetal congenital cardiac malformation in early pregnancy%孕早期胎儿颈项透明层厚度联合静脉导管频谱对先天性心脏畸形的预测价值

    朱银娣; 顾欣贤; 郭亮; 夏飞


    Objective To investigate the clinical application value of increased nuchal translucency (NT) thick-ness and abnormal blood flow spectrum of ductus venosus (DV) in predicting congenital heart disease (CHD) in early pregnancy. Methods From January 2012 to June 2015, fetal regular DV and NT measurements were performed on 1 996 pregnant women within 11~13+6 gestational weeks. The fetuses were followed up, and the relationship between DV, NT and CHD was analyzed. Results The incidence of CHD in fetuses with increased NT thickness was 12.9%(18/140), which was significantly higher than 0.2%(4/1 856) of fetuses with normal NT (P<0.01). The diagnostic sensitivity and specificity were 81.8%, 93.8%, and the positive predictive rate and negative predictive rate were 12.8%, 99.8%. The inci-dence of CHD in fetuses with abnormal DV was 12.3%(19/154), which was significantly higher than 0.2%(3/1 842) of fetuses with normal DV (P<0.01). The diagnostic sensitivity and specificity were 86.4%, 93.2%, and the positive pre-dictive rate and negative predictive rate were 12.3%, 99.8%. The incidence of CHD in fetuses with increased NT thickness and abnormal DV was 26.4%(14/53), which was significantly higher than 0.1% (2/1 894) of fetuses with normal NT and DV (P<0.01). The diagnostic sensitivity and specificity were 87.5%, 98.0%, and the positive predic-tive rate and negative predictive rate were 26.4%, 88.9%. Conclusion Increased NT thickness and abnormal blood flow spectrum of DV can be used as early screening indexes for fetal congenital cardiac malformation in early pregnancy.%目的:探讨孕早期胎儿颈项透明层厚度(NT)及胎儿静脉导管血流频谱(DV)对胎儿先天性心脏畸形(CHD)的临床预测价值。方法筛查对象为1996例于2012年1月至2015年6月间就诊于我院的孕妇,在孕11~13+6周测量NT值及DV频谱,并对胎儿进行随访,分析NT和DV与胎儿先天性心脏畸形之间的关系。结果 NT增厚的胎儿CHD的发生率为12

  2. 不同方法修复先天性外中耳畸形新建耳道的皮肤缺损的临床研究%Clinical study of different methods to repair the skin defect of the new ear canal of the congenital external middle ear malformation

    简洁君; 何超; 田磊; 李妮


    Objective To investigate the effect of repairing the skin defect of the new ear canal of the new ear canal with the acellular dermal matrix and the free thin layer of the skin.Methods 40 cases of January 2015 2013 to January 2009 in our hospital were congenital ear canal stenosis or deformity were included. All the patients underwent skeletal reconstruction of external auditory canal treatment. According to the random number table method is divided into two groups with 20 cases in each: in view of the new ear canal skin lesions, the observation group be dissimilar de cellular dermis matrix membrane repair treatment, control group was treated with autologous free thin skin graft treatment, comparative analysis the therapeutic effect of two groups.Results Patients were followed up for 6 months, patients in the two groups there were no graft rejection appeared and shedding phenomenon, the success rate of the two groups of patients transplanted reached 100%; were observed compared with control group, the group of complete epithelization time was significantly shortened (P<0.05); observation group transplantation 3 months and 6 months of Vancouver Scar score were lower than those in the control group decreased signiifcantly (P<0.05). The two groups had no serious abnormal reaction; observation group cosmetic satisfaction reached 95%, compared to the control group 85.00% increased significantly (P<0.05). ConclusionXenogenic deproteinization acellular dermal matrix membrane repair for congenital external and middle ear malformation new ear canal skin defect, as a dermal substitute, can effectively promote the skin defect of healing, reduce scar hyperplasia after the wound healing, good aesthetic effect, is worthy of clinical application.%目的:探讨异种脱细胞真皮基质修复膜与自体游离薄层皮片在先天性外中耳畸形新建耳道的皮肤缺损中的修复作用。方法:纳入2013年1月-2015年1月收治的先天性耳道狭窄或畸形患者40

  3. Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature


    Abstract Introduction Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not previously ...

  4. Preliminary report on the international conference for the development of standards for the treatment of anorectal malformations

    Holschneider, A; Hutson, J; Pena, A; Bekhit, E; Chatterjee, S; Coran, A; Davies, M; Georgeson, K; Grosfeld, J; Gupta, D; Iwai, N; Kluth, D; Martucciello, G; Moore, S; Rintala, R; Smith, ED; Sripathi, DV; Stephens, D; Sen, S; Ure, B; Grasshoff, S; Boemers, T; Murphy, F; Soylet, Y; Dubbers, M; Kunst, M


    Background: Anorectal malformations (ARM) are common congenital anomalies seen throughout the world. Comparison of outcome data has been hindered because of confusion related to classification and asssessment systems. Methods: The goals of the Krinkenbeck Conference on ARM was to develop standards f

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

    Campbell, E


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

  6. Congenital syphilis

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)


    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 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%)

  7. Congenital hypoaldosteronism.

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R


    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

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

    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


    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.

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

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


    The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery.

  10. Psychosocial adjustment and craniofacial malformations in childhood.

    Pertschuk, M J; Whitaker, L A


    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk.

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

    Clarke Kieran


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

  12. Pediatric central nervous system vascular malformations

    Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)


    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

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

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


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

  14. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

    Laura A. Runck


    Full Text Available Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations

  15. Testing Skills in Vertebrates

    Funk, Mildred Sears; Tosto, Pat


    In this article, the authors present a project that gives students examples of basic skills that many vertebrate species develop as they grow and function in their ecosystem. These activities involve information gathering about surroundings, learning how to use objects, and tracking and searching skills. Different vertebrate species may acquire…

  16. Spontaneous intracranial hemorrhage in children – ruptured lobar arteriovenous malformations: report of two cases

    Tascu A.


    Full Text Available Brain arteriovenous malformations (AVMs are lesions thought to be primarily congenital in origin, consisting of fistulous connections of abnormal arteries and veins, without normal intervening capillary beds and no cerebral parenchyma between vessels. In the pediatric population, AVMs represent the most common cause of spontaneous intracranial hemorrhage (ICH, with a high recurrent bleeding risk. The aim of this paper is to report 2 cases of ruptured lobar AVMs in children, presenting with spontaneous ICH. Due to the patients’ neurological status, the only imaging examination performed preoperatively was a CT scan, showing intraparenchymal hemorrhage. Thus, there was no MRI/angiographic examination to prove the existence of a brain AVM prior to the surgical interventions. Also, the cerebral angiography performed after the surgery showed, in both patients, no signs of residual vascular malformations. Therefore, the diagnosis of AVM was certified by macroscopic and microscopic pathological findings, with no brain imaging suggestive of a vascular malformation.

  17. Intradiploic occipital pseudomeningocele in a patient with remote history of surgical treatment of Chiari malformation.

    Mahaney, Kelly B; Menezes, Arnold H


    An intradiploic CSF pseudocyst is a rare entity that has been described in association with trauma, as a sequela of untreated hydrocephalus, or occasionally as a congenital finding in older adults. The authors present the case of a woman with a remote history of a posterior fossa intradural procedure, in which she underwent Chiari malformation decompression, Silastic substitute-assisted duraplasty, and occipitocervical fusion; she presented 19 years later with recurrent symptoms of Chiari malformation. She was found to have an occipital intradiploic pseudomeningocele, arising within her dorsal occipitocervical fusion mass and resulting in dorsal hindbrain compression. She underwent a posterior fossa decompression and revision of her failed duraplasty, and she had a good recovery. This case demonstrates intradiploic CSF pseudomeningocele as a rare potential delayed complication of an intradural procedure for the treatment of Chiari malformation with occipitocervical fusion.

  18. Intraparenchymal brain hemorrhage and remote soft tissue arteriovenous malformation in a newborn infant.

    Jee, Sandra H; Grow, Jennifer L; Faix, Roger G


    Congenital arteriovenous malformations (AVMs) often present with congestive heart failure. Such pathologic vascular structures typically occur in cranial, hepatic, or pulmonary locations and are usually associated with overlying external visible, tactile, or audible abnormalities. These vascular anomalies may also be associated with such complications as thromboembolic events, coagulopathy, and localized hemorrhage. We present a newborn infant with an occult but hemodynamically significant parascapular AVM who presented with an intraparenchymal brain hemorrhage, which we suspect to be a remote complication of the AVM.

  19. A Rare Cardiac Malformation in a Patient Presenting with Transient Ischemic Attack: Isolated Left Ventricular Diverticulum

    Haldun Müderrisoğlu1


    Full Text Available Left ventricular diverticulum is a rare congenital malformation consisting of a localized protrusion of the endocardium and myocardium from the free wall of the left ventricle (LV. The prevalence of the disease is 0.26% in nonselected patients who underwent cardiac catheterization. It is believed that the etiology is an intrinsic abnormality developing during embryogenesis. It often does not cause any symptoms. We report a case of isolated left ventricular diverticulum with complaints of transient ischemic attack.

  20. Grynfelt lumbar hernias. Presentation of a congenital case. Hernias lumbares de Grynfelt. Presentación de un caso de origen congénito

    Sergio Elías Molina Lamothe


    Full Text Available Lumbar hernias are uncommon and are reported rarely, they are informed only few more than 300 in literature and of them only 10 cases are congenital. The hernias that are produced through the superior lumbar space or Grynfelt-Lesshalf´s hernia, are due to the fact that they are more constant and larger they are usually more frequent than the Petit triangle. We are reporting a Newborn infant with the diagnosis of bilateral lumbar hernias and malformation of the vertebral column.
    Las hernias lumbares son sumamente raras, y se reportan en muy pocas ocasiones. Solo se informan poco más de 300 casos en la literatura, y de ellas solo existen 10 casos que se han presentado de forma congénita, según reportes. Las hernias que se producen a través del espacio lumbar superior o de Grynfelt-Lesshaft por ser de más constantes y de mayor tamaño suelen aparecer con más frecuencia que las que se producen a través del triángulo de Petit. Se reporta un recién nacido con diagnóstico de hernias lumbares bilaterales y malformación de la columna vertebral.

  1. Bochdalek Congenital Diaphragmatic Hernia in an Adult Sheep.

    Williams, R D; Katz, M G; Fargnoli, A S; Kendle, A P; Mihalko, K L; Bridges, C R


    Congenital diaphragmatic hernia (CDH) is a rare condition. The aetiology of CDH is often unclear. In our case, a hollow mass was noted on MRI. Cardiac ejection fraction was diminished (47.0%) compared to 60.5% (average of 10 other normal animals, P congenital diaphragmatic hernia (Bochdalek type) was made when the sheep underwent surgery. The hernia was right-sided and contained the abomasum. Lung biopsy demonstrated incomplete development with a low number of bronchopulmonary segments and vessels. The likely cause of this hernia was genetic malformation.

  2. [Congenital broncho-biliary fistula: a case report].

    Pérez, Cinthia G; Reusmann, Aixa


    Congenital tracheo-or-bronchobiliary fistula or congenital he-patopulmonary fistula is a rare malformation with high morbidity and mortality if the diagnosis is not made early. The tracheo-or-bronchobiliary fistula is a communication between the respiratory (trachea or bronchus) and biliary tract. To date, only 35 cases have been published worldwide. We report a case of a neonate with right pneumonia and bilious fluid in the endotracheal tube. Diagnosis was made using bronchoscopy with fluoroscopy. Videothoracoscopy was used to remove the bronchobiliary fistula. Subsequently, a left he-patectomy with Roux-en-Y biliary-digestive anastomosis was performed as bile ductus hypoplasia was present.

  3. Bochdalek Congenital Diaphragmatic Hernia in an Adult Sheep

    Williams, R. D.; Katz, M. G.; Fargnoli, A. S.; Kendle, A. P.; Mihalko, K. L.; Bridges, C. R.


    Summary Congenital diaphragmatic hernia (CDH) is a rare condition. The aetiology of CDH is often unclear. In our case, a hollow mass was noted on MRI. Cardiac ejection fraction was diminished (47.0%) compared to 60.5% (average of 10 other normal animals, P < 0.05). The final diagnosis of congenital diaphragmatic hernia (Bochdalek type) was made when the sheep underwent surgery. The hernia was right-sided and contained the abomasum. Lung biopsy demonstrated incomplete development with a low number of bronchopulmonary segments and vessels. The likely cause of this hernia was genetic malformation. PMID:26293994

  4. Echocardiography for the Assessment of Congenital Heart Defects in Calves.

    Mitchell, Katharyn Jean; Schwarzwald, Colin Claudio


    Congenital heart disease should be considered when evaluating calves with chronic respiratory signs, failure to thrive, poor growth, or if a murmur is heard on physical examination. Echocardiography is currently the gold standard for diagnosing congenital heart defects. A wide variety of defects, either alone or in combination with a ventricular septal defect, are possible. A standardized approach using sequential segmental analysis is required to fully appreciate the nature and severity of more complex malformations. The prognosis for survival varies from guarded to poor and depends on the hemodynamic relevance of the defects and the degree of cardiac compensation.

  5. Management of congenital choanal atresia: A pedodontist′s role

    Fathima Niloofar


    Full Text Available Choanal atresia is a rare cryptic congenital anomaly with developmental failure of the nasal cavity to communicate with the nasophaynx, resulting in a significant physiological and anatomical alteration of the dento-facial complex. It is considered as a life-threatening or lethal congenital malformation in an obligatory nasal breathing neonate. Elective transnasal endoscopic repair is the most preferred and minimally invasive procedure to correct this anomaly. This case report describes the multi-disciplinary team approach that included pedodontists to manage the case of a 6-month-old infant with choanal atresia suffering from breathlessness, feeding difficulty, and disturbed sleep.

  6. Congenital Mirror Movements in Gorlin Syndrome: A Case Report With DTI and Functional MRI Features.

    Sag, Erdal; Gocmen, Rahsan; Yildiz, F Gokcem; Ozturk, Zeynelabidin; Temucin, Cagri; Teksam, Ozlem; Utine, Eda


    Congenital mirror movements are rare conditions that define the inability to perform unimanual movements. Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a genetic disorder with multiple nevi predisposing to basal cell carcinoma, odontogenic keratocysts, and skeletal malformations. Herein we report on an adolescent patient with Gorlin syndrome and coexisting congenital mirror movements. To our knowledge, this is the first patient in the literature who has both of these very rare conditions.

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

    Prehn Lea R


    the evolution of vertebrate kidney systems and human diseases associated with congenital malformations.

  8. Lung development in congenital diaphragmatic hernia : an experimental study in a rat model of pulmonary hypoplasia and congenital diaphragmatic hernia induced by Nitrofen

    A.E. Brandsma (Annelies)


    textabstractApproximately 3% of human neonates are born with one or multiple congenital malformations (Nadler 1986). The birth of a child with a physical or mental handicap presents considerable problems with which both parents and the child must cope and raises questions about the cause. Despite ou

  9. Congenital upper lip pit: A rare case report

    Leena James


    Full Text Available One of the rarest developmental malformations of the lip is congenital lip pits. They are usually seen as bilateral depressions in the vermilion zone of the lip and occur on the paramedian portion of the vermilion border of the lip. They are extremely rare in the upper lip. Lip pits are due to the failure of complete union of embryonic lateral sulci of the lip/notching of lip at an early stage of development with fixation of tissues of the base of the notch. Lip pits have also been associated with a variety of other congenital disorders and other malformations. The clinical and pathologic picture and the therapeutic aspects of this condition are discussed in this paper.

  10. Clinical manifestations,imaging findings and pathological features of 15 cases with congenital cystic adenoma-toid malformation in the lung%先天性肺囊性腺瘤样畸形15例临床、影像及病理特点

    潘知焕; 金微瑛; 翁翠叶; 朱婷婷; 贾霄霄; 张海邻; 李昌崇; 张维溪


    Objective To explore the clinical manifestations,imaging findings,pathological classification and treatment of congenital cystic adenomatoid malformation (CCAM)of the lung.Methods The clinical features,imaging findings,pathology information,diagnosis,treatment method and its prognosis of children with CCAMconfirmed by ope-ration and pathology were retrospectively analyzed in Yuying Children′s Hospital Affiliated to Wenzhou Medical Univer-sity from August 2006 to August 201 4.Results Eleven patients were boys and 4 patients were girls.One case had a-symptomatic clinical features,1 2 cases had pulmonary infection,1 case had recurrent chest pain,and 1 case had de-pressed deformity in sternum inferior segment.Chest CT scanning indicated that 9 cases had multiple gas cysts at unila-teral side of lung,among which 1 case was of funnel chest and pulmonary sequestration,1 case of huge cyst containing air and fluid at inferior lobe of left lung,and 4 cases of high density lung shadow;CT examination indicated that 1 case had recurrent chest pain and eventration of diaphragm of the right side combined with pulmonary sequestration.All ca-ses were treated by surgical resection,of whom 1 case was given cystectomy and sequestrectomy,diaphragmatic plication respectively,1 case complicated with funnel chest disease underwent lesion pulmonary lobectomy,sequestrectomy and minimally invasive corrective surgery in pectus excavatum (Nuss surgery),and the remaining 1 2 cases received lesion pulmonary lobectomy.All of 1 5 cases recovered well without complications.Pathological classification type of CCAMin-cluded 1 1 cases of type Ⅰ,3 cases of type Ⅱ and 1 case of type Ⅲ,among which 2 cases had pulmonary sequestration. Conclusions CCAMis a rare disease which can be discovered along with pulmonary infection.Multiple gas cysts are the most common imaging findings and the preoperative diagnosis of CCAM is mostly based on chest CT examination. Type Ⅰ and type Ⅱ are the most common

  11. Abnormal Congenital Location of Stapes' Superstructure: Clinical and Embryological Implications

    Teles, Rafaela; Sousa, Ana; Estevão, Roberto; Rodrigues, Jorge; Gomes, Alexandra; Silva, Francisco; Fernandes, Ângelo; Fernandes, Fausto


    Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes' superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes. PMID:27648330

  12. Abnormal Congenital Location of Stapes’ Superstructure: Clinical and Embryological Implications

    Vânia Henriques


    Full Text Available Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes’ superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes.

  13. Congenital heart disease in the newborn requiring early intervention

    Sin Weon Yun


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

  14. Congenital bicuspid aortic valve in an English bulldog.

    Visser, Lance C; Scansen, Brian A


    A bicuspid aortic valve (BAV) demonstrating moderate valvular stenosis and mild insufficiency was identified in an asymptomatic 1-year-old male cryptorchid English bulldog by transthoracic and transesophageal echocardiography. The BAV was most consistent with type 3 morphology, based upon human classification. Pulmonary valve dysplasia with mild pulmonary stenosis and a suspected persistent left cranial vena cava were also identified. Although BAV is the most common congenital cardiac malformation in humans, it is rare in the dog.

  15. Classification and diagnosis of ear malformations

    Bartel-Friedrich, Sylva


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

  16. Identifying osteoporotic vertebral fracture

    Griffith, James F.


    Osteoporosis per se is not a harmful disease. It is the sequela of osteoporosis and most particularly the occurrence of osteoporotic fracture that makes osteoporosis a serious medical condition. All of the preventative measures, investigations, treatment and research into osteoporosis have one primary goal and that is to prevent the occurrence of osteoporotic fracture. Vertebral fracture is by far and away the most prevalent osteoporotic fracture. The significance and diagnosis of vertebral f...

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

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


    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.

  18. Congenital Heart Disease in Adults

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  19. Vertebral osteomyelitis without disc involvement

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


    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.

  20. Congenital heart disease

    ... page: // Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  1. Congenital platelet function defects

    ... storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that ... function, even though there are normal platelet numbers. Most ...

  2. Conservative correction of uterine anomalies in cases of congenital and posttraumatic infertility.

    Danezis, J; Soumplis, A; Papathanassiou, Z


    Uterine anomalies are due either to primary congenital malformations, or to secondary traumatic lesions of the intrauterine cavity as well as to pathology of the endometrium. The latter two etiologic factors create difficulties in the correct diagnosis of a congenital malformation and despite the convincing hysterosalpingographic findings a false diagnosis of a congenital malformation and despite the convincing hysterosalpingographic findings a false diagnosis is frequent. On the other hand the various degrees of uterine anomalies cannot always convince the gynecologist to undertake a plastic operation where the results for future fertility are doubtful. In our experience the extensive beneficial use of a variety of selected IUDs for the correction of intrauterine lesions also resulted in the correction of the size and shape of the uteri, previously diagnosed as malformed. The preliminary results of treatment in 110 cases of uterine anomalies after the application of a selected IUD combined with the administration of high doses of gestagens, showed an overall satisfactory improvement or complete reconstruction to a normal uterus in 86 (78%) of the cases. Higher fertility rate, better pregnancy outcome, correct diagnosis of the existing malformation, and safer decisions for further correction have also been attributed to the beneficial effects of the above treatment.

  3. A rare cause of congenital adrenal hyperplasia : Antley-Bixler syndrome due to POR deficiency

    Herkert, J. C.; Blaauwwiekel, E. E.; Hoek, A.; Veenstra-Knol, H. E.; Kema, I. P.; Arlt, W.; Kerstens, M. N.


    Cytochrome P(450) oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those ob

  4. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    Sperling, Lene; Kiil, C; Larsen, L U;


    by assisted reproduction. The incidence of TTTS was 23% from 12 weeks until delivery, and all those monochorionic twin pregnancies that miscarried had signs of TTTS. CONCLUSION: Twin pregnancies have an increased risk of congenital malformations and one out of four monochorionic pregnancies develops TTTS...

  5. Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

    Dolk, Helen; Wang, Hao; Loane, Maria


    OBJECTIVE: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA). METHODS: This was a population-based case-malformed control study based on 21 EUROCAT CA registries coveri...

  6. Asymptomatic congenital intrapericardial diaphragmatic hernia and epigastric hernia in the adult.

    La Greca, Gaetano; Sofia, Maria; Randazzo, Valentina; Barbagallo, Francesco; Lombardo, Rosario; Soma, Pierfranco; Russello, Domenico


    The congenital intrapericardial hernia is a rare kind of diaphragmatic hernia. It is due to an embryologic defect of the central tendon of the diaphragm, often accompanied by other congenital malformations. This work presents a unique case report in the literature of the congenital association between intrapericardial diaphragmatic hernia and epigastric hernia in an adult woman. In spite of herniation of the colon and omentum the patient was completely asymptomatic, requesting surgery for an epigastric hernia for aesthetic reasons. The defect of the diaphragm was sutured and the abdominal wall was repaired with a prosthetic mesh.

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

    Wemakor, A.; Casson, K.; Garne, E.;


    Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy...

  8. Study of various congenital anomalies in fetal and neonatal autopsy

    V. Siva Sankara Naik


    Full Text Available Background: The study of dead is to save the livings. The growing awareness that still births and infant mortalities are unable to reduction has led to a wide spread desire for more information regarding the cause of these deaths. Congenital malformations have become important cause of fetal and neonatal (perinatal mortality in developed countries and would very soon be increasingly important determinants of fetal and neonatal mortality in developing countries like India. In spite of antenatal diagnostic modality still the fetal autopsy plays the vital role in the conformation as well as identification of congenital anomalies and also for the counseling of the parents, to prevent the fetal congenital anomalies in further pregnancies. This study was undertaken with the purpose of finding out cause of death during the perinatal period at government maternity hospital and pediatric department S.V.R.R.G.G.H. and S.V. medical college Tirupati, and to study the clinical and pathological findings (Gross and microscopic in fetal and neonatal death. Methods: The present study of congenital anomalies in fetal and neonatal deaths was done at S.V. medical college, Tirupati, over a time period of 2 years from September 2008 to 2010 August. Consent for autopsy in requested compassionately, respectfully and fully informed. The present study included dead fetus and neonates with gestational age above 20 weeks of intra uterine life and within 7 days of post natal life. All fetuses of gestational age <20 weeks and all neonates above 7 days of age were excluded from the study. The study also obtained clearance from the ethical committee of the institution. Autopsy was performed by standard technique adopted by Edith L. Potter. External and internal findings followed by histopathological examination, and autopsy findings were compared with available ultrasound findings. Results: A total of 46 Autopsies performed, 40 (87% were fetal deaths, 6 (13% were early

  9. Smooth ocular pursuit in Chiari type II malformation.

    Salman, Michael S; Sharpe, James A; Lillakas, Linda; Steinbach, Martin J; Dennis, Maureen


    Chiari type II malformation (CII) is a congenital anomaly of the cerebellum and brainstem, both important structures for processing smooth ocular pursuit. CII is associated with myelomeningocele and hydrocephalus. We investigated the effects of CII on smooth pursuit (SP) eye movements, and determined the effects of spinal lesion level, number of shunt revisions, nystagmus, and brain dysmorphology on SP. SP was recorded using an infrared eye tracker in 21 participants with CII (11 males, 10 females; age range 8-19y, mean 14y 3mo [SD 3y 2mo]). Thirty-eight healthy children (21 males, 17 females) constituted the comparison group. Participants followed a visual target moving sinusoidally at +/- 10 degrees amplitude, horizontally and vertically at 0.25 or 0.5Hz. SP gains, the ratio of eye to target velocities, were abnormal in the CII group with nystagmus (n= 8). The number of shunt revisions (range 0-10), brain dysmorphology, or spinal lesion level (n= 15 for lower and n= 6 for upper spinal lesion level) did not correlate with SP gains. SP is impaired in children with CII and nystagmus. Abnormal pursuit might be related to the CII dysgenesis or to effects of hydrocephalus. The lack of effect of shunt revisions and abnormal tracking in participants with nystagmus provide evidence that it is related primarily to the cerebellar and brainstem malformation.

  10. Spontaneous ileal perforation complicating low anorectal malformation

    TiJesuni Olatunji


    Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

  11. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    Longoni, Mauro; Hansen, Kasper Lage; Russell, Meaghan K.;


    Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high‐resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub‐band 8p23.1. We confirm a region...... involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing protein–protein interactions between products of genes in the 8p23.1 hotspot and products of previously known CDH causing genes, implicated GATA4, NEIL2, and SOX7 in diaphragmatic defects...

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

    Soler, R.; Rodriguez, E.; Requejo, I.; Fernandez, R. [Department of Radiology, Hospital Juan Canalejo, La Coruma (Spain); Raposo, I. [Department of Pediatric Cardiology, Hospital Juan Canalejo, La Coruna (Spain)


    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.) With 12 figs., 24 refs.

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

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


    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.

  14. Congenital heart disease and chromossomopathies detected by the karyotype

    Patrícia Trevisan


    Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

  15. Chiari II malformation. Pt. 4

    Naidich, T.P.; McLone, D.G.; Fulling, K.H.


    Computed tomography successfully delineates the multiple components of the Chiari II malformation at the craniocervical junction, the hindbrain, and the cervical spinal cord. These include wide foramen magnum and upper cervical spinal canal; incomplete fusions of the posterior arches of C1 and lower cervical vertebrae; cascading protrusions of vermis, fourth ventricle, medulla, and cervical cord into the spinal canal; cervicomedullary ''kinking''; anterior displacement and sequential sagittal compression of each protrusion by the protrusions posterior to it; compression of all protrusions by the posterior lip of foramen magnum and the posterior arch of C1; and associated cervical hydromyelia, cervical diastematomyelia, and cervical arachnoid cysts.

  16. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh


    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented.

  17. Four cases of trisomy 18 syndrome with limb reduction malformations.

    Christianson, A L; Nelson, M. M.


    Limb reduction malformations of the arms are well documented in the trisomy 18 syndrome. Four cases of trisomy 18 syndrome with limb reduction malformations of the legs are described and compared with the upper limb malformations.

  18. Vertebral Fracture Prediction


    Vertebral Fracture Prediction A method of processing data derived from an image of at least part of a spine is provided for estimating the risk of a future fracture in vertebraeof the spine. Position data relating to at least four neighbouring vertebrae of the spine is processed. The curvature...

  19. Subfascial involvement in glomuvenous malformation

    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)


    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.)

  20. Cerebellar arteriovenous malformations in children

    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)


    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

  1. Vascular tumors and malformations of the colon

    Israel Fernandez-Pineda


    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.

  2. Possible role of WT1 in a human fetus with evolving bronchial atresia, pulmonary malformation and renal agenesis.

    Loo, Christine K C; Algar, Elizabeth M; Payton, Diane J; Perry-Keene, Joanna; Pereira, Tamara N; Ramm, Grant A


    The association of peripheral bronchial atresia and congenital pulmonary airway malformation (CPAM) has recently been recognised, but the pathology of the lesions evolving together has not been described. We present autopsy findings in a 20 week fetus showing areas of peripheral bronchial destruction and airway malformation consistent with developing CPAM in the right lung supporting a causal relationship between these lesions. This fetus also had congenital heart defect, bilateral renal agenesis and syndactyly. We identified another fetus from our autopsy files, with bilateral renal agenesis, similar right sided pulmonary malformation and cardiac defects. Similar bilateral renal agenesis and defects of the heart and lungs are found in wt1(-/-) mice and we have investigated the expression of WT1 in these fetuses. We hypothesise that the cardiac, liver, renal and possibly lung lesions in these two cases may arise due to mesenchymal defects consequent to WT1 misexpression and discuss evidence for this from the scientific literature. We used immunoperoxidase stains to analyse WT1 expression in autopsy hepatic tissue in both fetuses. We also investigated the expression of α-smooth muscle actin (α-SMA), a marker of activated hepatic stellate cells/myofibroblasts, and desmin in hepatic mesenchyme and compare these findings with control fetuses, without congenital malformations. We found reduced WT1 expression in hepatic mesothelium in both fetuses with malformations. There was also increased expression of α-SMA in liver perisinusoidal cells, as seen in the wt1(-/-) mouse model. We therefore propose that abnormality of WT1 signalling may be an underlying factor, as WT1 is expressed in coelomic lining cells from which mesenchyme is derived in many organs.

  3. Congenital abnormalities in methylmercury poisoning

    Gilani, S.H.


    This study was undertaken to determine the teratogenic potential of methylmercury on chick embryogenesis. Methylmercuric chloride was dissolved in sodium bicarbonate (0.2%) and administered to the chick embryos at doses ranging from 0.0009 to 0.010 mg per egg. The injections were made at days 2 and 3 on incubation (Groups A and B). All the embryos including controls were examined on the 7th day of incubation. Methylmercury poisoning was observed to be both embryolethal and teratogenic. Within the two groups, embryolethality was higher in Group A. The following congenital abnormalities were observed: exencephaly, shortened and twisted limbs, microphthalmia, shortened and twisted neck, beak abnormalities, everted viscera, reduced body size and hemorrhage all over the body. Exencephaly and limb abnormalities were very common. No differences in the incidence and types of gross abnormalities within both the groups (A and B) were noted. The incidence of malformations among the controls was low. The results of present investigation show that methylmercury poisoning is both embryolethal and teratogenic to early chick embryogenesis. (auth)

  4. 后路全脊椎截骨治疗严重僵硬性先天性脊柱畸形神经系统并发症及其危险因素分析%Neurological complications of posterior vertebral column resection for severe rigid congenital spinal deformities

    张涛; 陶惠人; 黄景辉; 李涛; 沈超; 陈博; 陈向波; 杨卫周; 刘明


    目的 探讨后路全脊椎截骨治疗严重僵硬性先天性脊柱畸形的神经系统并发症及其危险因素.方法 收集2007年6月至2012年11月在第四军医大学西京医院接受后路全脊椎截骨治疗的88例严重僵硬性先天性脊柱畸形患者的临床资料,男性39例,女性49例,年龄6~46岁,平均16.9岁.测量患者术前、术后及随访时Cobb角、平衡情况,记录手术情况、神经系统并发症及随访情况等.对患者的年龄、Cobb角、手术时间、体重指数、肺功能、出血比、截骨部位、固定椎体数、切除椎体数、使用cage/钛网情况、术前神经功能状况、畸形类型、合并椎管内畸形情况进行单因素分析,对有意义的因素进行多因素Logistic回归分析.结果 所有患者平均随访42个月(19 ~ 83个月),平均切除椎体1.3个(1~3个),平均手术时间502 min(165 ~ 880 min),平均出血量2 238 ml(100 ~11 500 ml),平均出血比69.3%(9% ~299%).冠状位Cobb角由术前平均93.6°矫正至22.2°,末次随访22.9°,矫形率76.8%.冠状位失衡(绝对值)由术前平均2.5 cm减少至1.3 cm.矢状位Cobb角由术前平均88.2°矫正至28.7°,末次随访29.2°,矢状位Cobb角平均减少59.0°.矢状位失衡(绝对值)由术前平均3.1 cm减少至1.2 cm.发生神经系统并发症12例(13.6%).手术时间≥480 min、肺功能异常、出血比>50%、T7~T9截骨及术前神经功能异常患者神经系统并发症发生率较高(P=0.046,0.000,0.000,0.033,0.043).结论 后路全脊椎截骨治疗严重脊柱畸形疗效显著,肺功能异常、出血比>50%是发生神经系统并发症的高危因素.%Objective To analyze the risk factors of neurological complications of posterior vertebral column resection in the treatment of severe rigid congenital spinal deformities.Methods The clinical data of 88 patients with severe rigid congenital spinal deformities who underwent PVCR in Department Of Orthopaedics

  5. Comparative genomic analysis of slc39a12/ZIP12: insight into a zinc transporter required for vertebrate nervous system development.

    Winyoo Chowanadisai

    Full Text Available The zinc transporter ZIP12, which is encoded by the gene slc39a12, has previously been shown to be important for neuronal differentiation in mouse Neuro-2a neuroblastoma cells and primary mouse neurons and necessary for neurulation during Xenopus tropicalis embryogenesis. However, relatively little is known about the biochemical properties, cellular regulation, or the physiological role of this gene. The hypothesis that ZIP12 is a zinc transporter important for nervous system function and development guided a comparative genetics approach to uncover the presence of ZIP12 in various genomes and identify conserved sequences and expression patterns associated with ZIP12. Ortholog detection of slc39a12 was conducted with reciprocal BLAST hits with the amino acid sequence of human ZIP12 in comparison to the human paralog ZIP4 and conserved local synteny between genomes. ZIP12 is present in the genomes of almost all vertebrates examined, from humans and other mammals to most teleost fish. However, ZIP12 appears to be absent from the zebrafish genome. The discrimination of ZIP12 compared to ZIP4 was unsuccessful or inconclusive in other invertebrate chordates and deuterostomes. Splice variation, due to the inclusion or exclusion of a conserved exon, is present in humans, rats, and cows and likely has biological significance. ZIP12 also possesses many putative di-leucine and tyrosine motifs often associated with intracellular trafficking, which may control cellular zinc uptake activity through the localization of ZIP12 within the cell. These findings highlight multiple aspects of ZIP12 at the biochemical, cellular, and physiological levels with likely biological significance. ZIP12 appears to have conserved function as a zinc uptake transporter in vertebrate nervous system development. Consequently, the role of ZIP12 may be an important link to reported congenital malformations in numerous animal models and humans that are caused by zinc deficiency.

  6. Comparative genomic analysis of slc39a12/ZIP12: insight into a zinc transporter required for vertebrate nervous system development.

    Chowanadisai, Winyoo


    The zinc transporter ZIP12, which is encoded by the gene slc39a12, has previously been shown to be important for neuronal differentiation in mouse Neuro-2a neuroblastoma cells and primary mouse neurons and necessary for neurulation during Xenopus tropicalis embryogenesis. However, relatively little is known about the biochemical properties, cellular regulation, or the physiological role of this gene. The hypothesis that ZIP12 is a zinc transporter important for nervous system function and development guided a comparative genetics approach to uncover the presence of ZIP12 in various genomes and identify conserved sequences and expression patterns associated with ZIP12. Ortholog detection of slc39a12 was conducted with reciprocal BLAST hits with the amino acid sequence of human ZIP12 in comparison to the human paralog ZIP4 and conserved local synteny between genomes. ZIP12 is present in the genomes of almost all vertebrates examined, from humans and other mammals to most teleost fish. However, ZIP12 appears to be absent from the zebrafish genome. The discrimination of ZIP12 compared to ZIP4 was unsuccessful or inconclusive in other invertebrate chordates and deuterostomes. Splice variation, due to the inclusion or exclusion of a conserved exon, is present in humans, rats, and cows and likely has biological significance. ZIP12 also possesses many putative di-leucine and tyrosine motifs often associated with intracellular trafficking, which may control cellular zinc uptake activity through the localization of ZIP12 within the cell. These findings highlight multiple aspects of ZIP12 at the biochemical, cellular, and physiological levels with likely biological significance. ZIP12 appears to have conserved function as a zinc uptake transporter in vertebrate nervous system development. Consequently, the role of ZIP12 may be an important link to reported congenital malformations in numerous animal models and humans that are caused by zinc deficiency.

  7. Association of Chiari I malformation and cerebellar ectopia with sensorineural hearing loss.

    Haktanir, Alpay; Yücedağ, Fatih; Kaçar, Emre; Ulu, Sahin; Gültekin, Mehmet Ali; Ünlü, Ebru; Bucak, Abdülkadir; Ayçiçek, Abdullah


    We aimed to examine the prevalence of cerebellar tonsil ectopia and Chiari 1 malformation in sensorineural hearing loss (SHL) that has, to the best of our knowledge, not been studied previously. Magnetic resonance imaging records of 166 subjects with SHL and 50 controls without known otologic disturbances were included in the study. A tonsils descent more than 2 mm was assumed as cerebellar ectopia, and a descent equal to or more than 5 mm was assumed as Chiari 1 malformation. A tonsil descent group was also formed by summation of both groups. Transverse diameters of bilateral intracranial vertebral arteries and transverse sinuses were also measured, and all parameters were analyzed using appropriate statistics. A significant difference of frequencies of Chiari 1, ectopia, and tonsil descent was detected between patients and controls. In comparison of cerebellar ectopia and Chiari 1 groups, SHL did not show any significant difference. The left lateral sinus diameter showed positive correlation with tonsil descent. There was no significant correlation for the diameters of other vessels. A powerful correlation was detected between SHL and age. In addition, right and vertebral artery diameters showed positive correlations with age. Chiari 1 malformation and cerebellar ectopia showed an association with SHL. These patients should also be evaluated for otologic disturbances. Further high-resolution magnetic resonance imaging studies to explain the exact cause of this currently unknown association seems required.

  8. Congenital heart defects in children with oral clefts

    Nahvi H.


    Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

  9. 枕下减压枕颈融合在先天性颅颈交界畸形中的应用%Application of Occipital-Cervical Fusion and Sub-Occipital Decompression in Congenital Occipital-Vertebral Junction Malformation

    高永军; 张玉敏; 徐蔚; 方绍龙; 付国平; 赵宁辉


    目的 探讨后路枕下减压硬脑脊膜减张缝合和枕颈融合术对先天性颅颈交界畸形的治疗作用.方法 自2002年10月至2009年4月昆明医学院第二附属医院神经外科收治颅颈交界畸形患者53例,选择其中复杂畸形(指chiari畸形合并扁平颅底、环枢椎脱位或环枕融合等)且适于行后路减压枕颈融合的患者12例(男7例,女5例),后正中直切口完成后路枕骨大孔周围减压(约3.5 cm×2.5 cm)、环椎后弓中线两侧减压(约2.0 cm)、人工硬脑膜减张缝合硬脑脊膜、在C-形臂X线辅助下利用CerviFix-颈椎后路杆固定系统完成枕颈融合.分别于术后半年、1a及2 a完成随访.按Symon和Lavender临床标准,症状改善一级即为有效.结果 12例手术均获得成功,术中损伤椎动脉1例,以适中的力量加明胶海绵压迫后用骨蜡封闭,出血停止,术后颈托固定3~6个月,术后复查X线片,提示固定效果可靠,固定材料与枕颈部吻合良好.术后随访,除1例重症患者行走困难无明显改善外,其余所有患者症状均获得不同程度改善,临床总有效率为92%.结论 应用CerviFix-颈椎后路杆固定系统实现枕颈融合,同时使用枕下减压是治疗先天性颅颈交界畸形安全有效的方法.

  10. Genetics of congenital hypothyroidism

    Park, S.; Chatterjee, V


    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...

  11. Predicting vertebral bone strength by vertebral static histomorphometry

    Thomsen, Jesper Skovhus; Ebbesen, Ebbe Nils; Mosekilde, Lis


    The study investigates the relationship between static histomorphometry and bone strength of human lumbar vertebral bone. The ability of vertebral histomorphometry to predict vertebral bone strength was compared with that of vertebral densitometry, and also with histomorphometry and bone strength...... of the entire vertebral bodies (L-2) were used for histomorphometry. The other iliac crest biopsies and the L-3 were destructively tested by compression. High correlation was found between BV/TV or Tb.Sp and vertebral bone strength (absolute value of r = 0.86 in both cases). Addition of Tb.Th significantly...... of improving the prediction of bone strength of the vertebral body. The correlations between BV/TV of L-2 and bone strength of L-3 were comparable with the correlation obtained by quantitative computed tomography (QCT), peripheral QCT (pQCT), and dual-energy X-ray absorptrometry (DEXA) of L-3 and bone strength...

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

    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)


    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.)

  13. Turner syndrome with spinal hemorrhage due to vascular malformation.

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong


    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS.

  14. [Uterine Rupture at 18 Weeks of Pregnancy in the Context of Malformed Uterus].

    Vale-Fernandes, Emídio; Teixeira, Neusa; Cadilhe, Alexandra; Rocha, Maria José


    Birth defects of the female genital tract are relatively common and often asymptomatic. Despite the pregnancy outcome can be favorable, adverse obstetric outcomes are described in women with uterine malformations. The authors report the case of an obstetric emergency which enhances the possibility of a very adverse and rare outcome of uterine rupture in a left hemi-cavity of a bicornuate uterus away from the term, at 18 weeks of pregnancy, in a pregnant woman with history of caesarean in the right hemi-cavity and with placenta increta. A malformed uterus with a primitive type cavity has lower distensibility of the wall with the progression of the pregnancy and facilitates the development of abnormal placentation forms, increasing the risk of uterine rupture in the first and second trimesters. The knowledge of the existence of a congenital uterine anomaly in the preconceptional period is of primary importance.

  15. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series

    Arora, Nikhil; Meher, Ravi; Bhargava, Eishaan K.


    Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure. Chiari malformation is the one of the most common congenital central nervous system anomaly associated with bilateral vocal cord paralysis. However, the presentation is rare. This article, thus, emphasizes the significance of early diagnosis and immediate management of this condition. PMID:27790480

  16. Ontogeny of the vertebral column of Eleutherodactylus johnstonei (Anura: Eleutherodactylidae) reveals heterochronies relative to metamorphic frogs.

    Meza-Joya, Fabio Leonardo; Ramos-Pallares, Eliana Patricia; Ramírez-Pinilla, Martha Patricia


    Over the last century, the morphogenesis of the vertebral column has been considered as a highly conserved process among anurans. This statement is based on the study of few metamorphic taxa, ignoring the role of developmental mechanisms underlying the evolution of specialized life-histories. Direct development in anurans has been regarded as evolutionarily derived and involves developmental recapitulation and repatterning at different levels in all amphibian taxa studied so far. Herein, we analyze the vertebral column morphogenesis of the direct-developing frog Eleutherodactylus johnstonei, describing the sequence of chondrification and ossification, based on cleared and double-stained specimens from early stage embryos to adults. In general, our results show that the morphogenesis of the vertebral column in E. johnstonei recapitulates the ancestral tadpole-like pattern of development. However, the analysis of the sequence of events using heterochrony plots shows important heterocronies relative to metamorphic species, such as a delay in the chondrification of the vertebral centra and in osteogenesis. These ontogenetic peculiarities may represent derived traits in direct-developing frogs and are possibly correlated with its unusual life history. In addition, several features of the vertebral column of E. johnstonei are highly variable from its typical morphology. We report some malformations and small deviations, which do not seem to affect the survival of individuals. These anomalies have also been found in other frogs, and include many vertebral defects, such as vertebral fusion, and vertebral preclusion and/or induction.

  17. Genetics Home Reference: congenital hypothyroidism

    ... Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse boxes. Download PDF Open All Close All Description Congenital hypothyroidism is a partial or complete loss of function ...

  18. Adults with Congenital Heart Defects

    ... Thromboembolism Aortic Aneurysm More Web Booklet: Adults With Congenital Heart Defects Updated:Apr 24,2014 From the Committee on ... below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: Adults with Congenital Heart Defects Introduction: ...

  19. What Are Congenital Heart Defects?

    ... page from the NHLBI on Twitter. What Are Congenital Heart Defects? Congenital (kon-JEN-ih-tal) heart defects are problems ... carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the ...

  20. Medico-legal aspects of congenital heart diseases in buying and selling of pets

    Passantino, Annamaria; Pugliese, Michela; Quartarone, Valeria; Russo, Natalia; Bussadori, Roberto; Guercio, Bartolomeo


    Aim: The veterinarian should be able to assess congenital and inherited malformations such as heart defects because they may be object of legal disputes. In this study, the authors report some cases of congenital heart defects in pets (dogs and cats) to clarify whether or not they may be considered a redhibitory defect. Materials and Methods: A total of 28 medical records of pets referred with suspected congenital heart disease were examined. All patients aged between 3 and 24 months underwent clinical examination, chest X-ray examination, electrocardiogram, and echocardiography and angiocardiography when necessary. Results: Congenital heart diseases or associated cardiac malformations were confirmed. Considering the above congenital diseases as redhibitory defect and the rights of the owners from a strictly legal viewpoint, 9 owners demanded an estimatory action and 11 a redhibitory action; 1 owner decided to demand the reimbursement of veterinary expenses because the animal died; 7 owners took no legal action but requested surgical intervention. Conclusions: Until more appropriate and detailed legislation on the buying and selling of pet animals is put in place; the authors propose to include in the contract a temporal extension of the guarantee relating to congenital heart disease, which can often become evident later. PMID:28246457

  1. Medico-legal aspects of congenital heart diseases in buying and selling of pets

    Annamaria Passantino


    Full Text Available Aim: The veterinarian should be able to assess congenital and inherited malformations such as heart defects because they may be object of legal disputes. In this study, the authors report some cases of congenital heart defects in pets (dogs and cats to clarify whether or not they may be considered a redhibitory defect. Materials and Methods: A total of 28 medical records of pets referred with suspected congenital heart disease were examined. All patients aged between 3 and 24 months underwent clinical examination, chest X-ray examination, electrocardiogram, and echocardiography and angiocardiography when necessary. Results: Congenital heart diseases or associated cardiac malformations were confirmed. Considering the above congenital diseases as redhibitory defect and the rights of the owners from a strictly legal viewpoint, 9 owners demanded an estimatory action and 11 a redhibitory action; 1 owner decided to demand the reimbursement of veterinary expenses because the animal died; 7 owners took no legal action but requested surgical intervention. Conclusions: Until more appropriate and detailed legislation on the buying and selling of pet animals is put in place; the authors propose to include in the contract a temporal extension of the guarantee relating to congenital heart disease, which can often become evident later.

  2. Clinical analysis on 81 fetuses with fetal malformation%81例胎儿畸形临床分析

    陈蔚; 胡春霞; 金松


    目的:探讨超声在产前诊断胎儿缺陷中的临床价值.方法:对2008年1月~2010年12月在海南医学院附属医院就诊的6000例不同孕周孕妇采用实时彩色多普勒超声进行系统检查,对胎儿畸形进行筛查和诊断.结果:在6000例孕妇中,经引产或出生后证实的各种畸形81例,彩超筛查诊断胎儿畸形75例,漏诊6例,其中先天性小眼球畸形1例,先天性心脏畸形2例,多指畸形1例,颈部椎骨缺损1例,胸部巨大淋巴囊腺瘤1例.75例胎儿畸形的产前超声诊断、合并畸形与产后结果均经出生或引产后尸检证实.结论:妊娠各期进行彩超筛查,可以对胎儿形态结构方面的明显畸形进行产前诊断,对于降低出生缺陷发生率,提高人口素质具有重要意义.%Objective: To explore the clinical value of ultrasound in prenatal diagnosis of fetal malformation. Methods: 6 000 pregnant women of different gestational weeks from the hospital from January 2008 to December 2010 received systematical examination by color Doppler ultrasound, fetal malformation was screened and diagnosed. Results: Among 6 000 pregnant women, 81 fetuses were found with various malformations confirmed by induced labor and delivery, 75 fetuses with fetal malformation were screened out by color Doppler ultrasound, 6 fetuses escaped from recognition, including one fetus with congenital microphthalmia, 2 fetuses with congenital cardiac malformation, 1 fetus with polydactyly, 1 fetus with vertebrae defect of neck, 1 fetus with huge cystadenoma lymphomatosum of chest. The prenatal ultrasonic diagnosis, combined malformation and postnatal result of 75 fetuses with fetal malformation were confirmed by delivery or autopsy after induced labor. Conclusion: Ultrasonic screening during different periods of pregnancy can diagnose apparent fetal morphological malformation and structural malformation before delivery, which is of great significance for reducing the incidence of birth defect

  3. Hsp90 selectively modulates phenotype in vertebrate development.

    Patricia L Yeyati


    Full Text Available Compromised heat shock protein 90 (Hsp90 function reveals cryptic phenotypes in flies and plants. These observations were interpreted to suggest that this molecular stress-response chaperone has a capacity to buffer underlying genetic variation. Conversely, the protective role of Hsp90 could account for the variable penetrance or severity of some heritable developmental malformations in vertebrates. Using zebrafish as a model, we defined Hsp90 inhibitor levels that did not induce a heat shock response or perturb phenotype in wild-type strains. Under these conditions the severity of the recessive eye phenotype in sunrise, caused by a pax6b mutation, was increased, while in dreumes, caused by a sufu mutation, it was decreased. In another strain, a previously unobserved spectrum of severe structural eye malformations, reminiscent of anophthalmia, microphthalmia, and nanophthalmia complex in humans, was uncovered by this limited inhibition of Hsp90 function. Inbreeding of offspring from selected unaffected carrier parents led to significantly elevated malformation frequencies and revealed the oligogenic nature of this phenotype. Unlike in Drosophila, Hsp90 inhibition can decrease developmental stability in zebrafish, as indicated by increased asymmetric presentation of anophthalmia, microphthalmia, and nanophthalmia and sunrise phenotypes. Analysis of the sunrise pax6b mutation suggests a molecular mechanism for the buffering of mutations by Hsp90. The zebrafish studies imply that mild perturbation of Hsp90 function at critical developmental stages may underpin the variable penetrance and expressivity of many developmental anomalies where the interaction between genotype and environment plays a major role.

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

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


    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.

  5. Computerized tomography of the vertebral column and the vertebral canal. Computertomographie der Wirbelsaeule und des Spinalkanals

    Thurn, P.; Friedmann, G.


    Soon after the introduction of whole-body computerized tomography, it became apparent that this method is a valuable aid in many clinical problems as especially the paravertebral soft parts can be satisfactorily evaluated. The further technical improvement of the devices to permit sectoral and thin-layer scans, provided the possibility of scanning especially the intraspinal structures with an accuracy not so far known. Thus it became for the first time possible to demonstrate details of the spinal cord, the cauda and the surrounding spinal meninges directly, making for quite a substantial improvement of differential diagnosis and the restriction of myelography, which remains an invasive method despite the use of water-soluble contrast media. As the limitations and possibilities of the method have meanwhile been definitely established to some extent, the results in cases of intervertebral disk lesions, tumors, malformations, traumata and other diseases, which are based on the evaluation of some 3,000 examinations, were compiled in the hope of providing a manual to those concerned with computerized tomography of the vertebrate column and the vertebral canal, making them familiar with the normal anatomy and the interpretation of images of pathologic conditions, and pointing out the efficiency of computerized tomography in this particular sector of X-ray diagnostics.

  6. New Technologies for Surgery of the Congenital Cardiac Defect

    David Kalfa


    Full Text Available The surgical repair of complex congenital heart defects frequently requires additional tissue in various forms, such as patches, conduits, and valves. These devices often require replacement over a patient’s lifetime because of degeneration, calcification, or lack of growth. The main new technologies in congenital cardiac surgery aim at, on the one hand, avoiding such reoperations and, on the other hand, improving long-term outcomes of devices used to repair or replace diseased structural malformations. These technologies are: 1 new patches: CorMatrix® patches made of decellularized porcine small intestinal submucosa extracellular matrix; 2 new devices: the Melody® valve (for percutaneous pulmonary valve implantation and tissue-engineered valved conduits (either decellularized scaffolds or polymeric scaffolds; and 3 new emerging fields, such as antenatal corrective cardiac surgery or robotically assisted congenital cardiac surgical procedures. These new technologies for structural malformation surgery are still in their infancy but certainly present great promise for the future. But the translation of these emerging technologies to routine health care and public health policy will also largely depend on economic considerations, value judgments, and political factors.

  7. Pulmonary Arteriovenous Malformation in Cryptogenic Liver Cirrhosis Associated with Turner's Syndrome.

    Kim, Ji Hoon; Jung, Young Kul; Jeong, Eun Seok; Seo, Yeon Seok; Yim, Hyung Joon; Yeon, Jong Eun; Shim, Jae Jeong; Byun, Kwan Soo; Lee, Chang Hong


    Turner's syndrome is a genetic disorder of the sex chromosomes (e.g., 45,X or 45,X/46,XX) that manifests as various congenital anomalies. Despite its numerous extragonadal manifestations and frequent accompanying abnormalities in liver function tests, liver cirrhosis associated with Turner's syndrome has not been reported in Korea. Moreover, pulmonary arteriovenous malformations (PAVMs) have rarely been reported in association with liver cirrhosis, but there have been no reports of PAVMs occurring in cryptogenic liver cirrhosis associated with Turner's syndrome. We report a case of PAVM that occurred in cryptogenic liver cirrhosis associated with Turner's syndrome.

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

    McCarthy, Claire


    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.

  9. Visual mental imagery in congenital prosopagnosia.

    Grüter, Thomas; Grüter, Martina; Bell, Vaughan; Carbon, Claus-Christian


    Congenital prosopagnosia (cPA) is a selective impairment in the visual learning and recognition of faces without detectable brain damage or malformation. There is evidence that it can be inherited in an autosomal dominant mode of inheritance. We assessed the capacity for visual mental imagery in 53 people with cPA using an adapted Marks' VVIQ (Vividness of Visual Imaging Questionnaire). The mean score of the prosopagnosic group showed the lowest mental imagery scores ever published for a non-brain damaged group. In a subsample of 12 people with cPA, we demonstrated that the cPA is a deficit of configural face processing. We suggest that the 'VVIQ-PA' (VVIQ-Prosopagnosia) questionnaire can help to confirm the diagnosis of cPA. Poor mental imagery, a configural face processing impairment and clinical prosopagnosia should be considered as symptoms of a yet poorly understood hereditary cerebral dysfunction.

  10. Congenital Insensitivity to Pain

    Praveen Kumar B,


    Full Text Available Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN. It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

  11. Multifocal Congenital Hemangiopericytoma.

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad


    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

  12. Unilateral pulmonary artery stenosis and late-onset cataract in an adult: a case of suspected congenital rubella syndrome

    LIU Yang; GUO Jun; ZHAO Rui-fu; WANG Lin


    Congenital rubella syndrome (CRS) is characterized by the triad of deafness,cataract and cardiovascular malformations.1 The great majority of the cases in the literature have been usually diagnosed in infancy and childhood because of various defects at birth.However,we report a rare case of suspected CRS in an adult with unilateral pulmonary artery stenosis and late-onset cataract.

  13. Anterior commissure absence without callosal agenesis: a new brain malformation.

    Mitchell, T N; Stevens, J M; Free, S L; Sander, J W; Shorvon, S D; Sisodiya, S M


    The authors report a novel human brain malformation characterized by the absence of the anterior commissure without callosal agenesis, but associated with gross unilateral panhemispheric malformation incorporating subependymal heterotopia, subcortical heterotopia, and gyral abnormalities including temporal malformation and polymicrogyria. In contrast, a normal anterior commissure was found in 125 control subjects and in 113 other subjects with a range of brain malformations.

  14. Key aspects congenital infection

    Yu. V. Lobzin


    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  15. Congenital spine deformities: a new screening indication for blunt cerebrovascular injuries after cervical trauma?

    Capone, Christine; Burjonrappa, Sathyaprasad


    Blunt cerebrovascular injuries (BCVI) carry significant morbidity if not diagnosed and treated early. A high index of clinical suspicion is needed to recognize the injury patterns associated with this condition and to order the requisite imaging studies needed to diagnose it accurately. We report of BCVI associated with a congenital cervical spine malformation after blunt trauma. We recommend inclusion of cervical spine malformations to the current Eastern Association for the Surgery of Trauma screening criteria for BCVI and explain our rationale for the same.

  16. [Computed tomography and magnetic resonance imaging of congenital abnormalities of the temporal bone].

    Czerny, C; Gstöttner, W; Imhof, H


    Congenital abnormalities of the temporal bone are mostly accompanied by conductive or sensori-neural hearing loss. Before any therapeutic procedures are done high resolution CT (HRCT) and magnetic resonance imaging (MRI) should be performed to establish the correct diagnosis and to plan the potentially surgical intervention. HRCT best depicts osseous changes especially those of the external auditory canal and the middle ear containing the ossicles and the osseous structures of the temporal bone and the petrous bone containing the inner ear. MRI excellently shows soft tissue changes of the inner ear especially on the high resolution 3DT2-weighted sequences which give a superb contrast between the nerves and the cerebro-spinal fluid. Malformations of the external auditory canal consists of aplasia or hypoplasia and those of the middle ear range form extreme hypoplasia or aplasia to very mild deformations of the ossicles. Malformations of the inner ear also range form complete aplasia to very mild hypoplasia of the organs of the inner ear as well as malformations concerning the nerves in the internal auditory canal range from aplasia to hypoplasia. Malformations of the temporal bone can either occur isolated or in combination in which malformations of the external and middle ear may be accompanied by those of the inner ear. Furthermore, malformations of the temporal bone may also occur in otofacial, otocervical or otoskeletal syndromes. These syndromes may be accompanied by certain malformations of the temporal bone. HRCT and MRI are both excellent methods to depict congenital abnormalities of the temporal bone and of the inner ear and should be used as complementary methods because HRCT best depicts osseous changes and MRI superbly depicts soft tissue changes. Both methods are important to establish the correct diagnosis to plan the therapeutic procedures.

  17. Vein of Galen Malformation: Outcome after Embolization

    J Gordon Millichap


    Full Text Available The neurodevelopmental outcome after endovascular treatment of vein of Galen malformation (VOGM in 27 patients seen between 1983 and 2002 was assessed by chart review and parental questionnaires at the University of California, San Francisco.

  18. Inner ear malformations: a practical diagnostic approach.

    Mazón, M; Pont, E; Montoya-Filardi, A; Carreres-Polo, J; Más-Estellés, F


    Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20-40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach.

  19. What Is an Arteriovenous Malformation (AVM)?

    ... T. Quiz 5 Things to Know About Stroke What Is an Arteriovenous Malformation (AVM)? Updated:Nov 21, ... About AVMs Symptoms and Bleeding Diagnosis and Treatment What is a brain AVM? Normally, arteries carry blood ...

  20. Gamma knife radiosurgery for cerebral arteriovenous malformations.

    Kemeny, A A; Radatz, M W R; Rowe, J G; Walton, L; Hampshire, A


    Since its introduction, gamma knife radiosurgery has become an important treatment modality for cerebral arteriovenous malformations. This paper is a brief overview of the technique used, of the clinical results achieved and of the experience gained in Sheffield.