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Sample records for congenital vertebral malformations

  1. Pediatric congenital vertebral artery arteriovenous malformation.

    Science.gov (United States)

    Shownkeen, Harish; Bova, Davide; Chenelle, Andrew G; Origitano, Thomas C

    2003-05-01

    Vertebral arteriovenous fistulas are rare in children and the congenital form has been seldom reported in the literature. Prior to using endovascular therapy techniques, only surgery was the main treatment. The most common endovascular treatment is through the use of detachable balloons. This report describes the clinical and radiological findings of a congenital vertebral artery fistula in a 20-month-old child. Balloons could not be safely employed; therefore, embolization was performed with Guglielmi detachable microcoils. We review the history and treatment of these lesions, their clinical presentation, and imaging features, including their outcome, with particular attention to the pediatric population. PMID:12695869

  2. Pediatric congenital vertebral artery arteriovenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shownkeen, Harish; Chenelle, Andrew G.; Origitano, Thomas C. [Department of Neurologcal Surgery, Loyola University Medical Center, 2160 S. First Avenue, Maywood, IL 60153 (United States); Bova, Davide [Department of Radiology, Loyola University Medical Center, 2160 S. First Avenue, Maywood, IL 60153 (United States)

    2003-05-01

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

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

    Science.gov (United States)

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

    2014-04-01

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

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

    Science.gov (United States)

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

    2014-02-01

    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. Congenital spinal malformations

    International Nuclear Information System (INIS)

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

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

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    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.

  7. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

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

    2007-01-01

    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

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    Akhavan Karbasi Sedighah

    2009-05-01

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

  9. Congenital pseudoarthrosis associated with venous malformation

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

    2007-06-15

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

  10. Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

    Science.gov (United States)

    Berger, S; Ziebell, P; OFFsler, M; Hofmann-von Kap-herr, S

    1998-09-01

    A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a persisting urachus were also found. Extra-abdominal malformations such as Down's syndrome, congenital diaphragmatic hernia, aortic stenosis, and malformations of vertebral bodies were seen. Twin siblings of children with IND were either healthy (n=3) or died in utero (n=1). Seventeen children with IND developed severe intra-abdominal complications during the perinatal period such as necrotizing enterocolitis (NEC), meconium ileus, or bowel perforations. NEC was frequently associated with preterm birth. Bowel perforations were seen in mature and preterm newborns with IND. Taken together, IND is found in a variety of obstructive bowel diseases. This may support the hypothesis that IND is a secondary phenomenon or that congenital atresias and stenoses of the digestive tract have a pathogenesis similar to that of intestinal innervation disturbances. IND may also be a part of complex malformation patterns since it occurs with a number of extraintestinal and non-obstructive intestinal malformations. PMID:9716673

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

    International Nuclear Information System (INIS)

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

  12. Characterization of Live Birth with Congenital Malformations

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    Carlos Acosta Batista

    2015-06-01

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

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

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

    2006-08-15

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

  14. MR findings of congenital anorectal malformation

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

    1995-05-15

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

  15. Congenital Chiari malformations: A review

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    Vannemreddy Prasad

    2010-01-01

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

  16. Virus-induced congenital malformations in cattle.

    Science.gov (United States)

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-01-01

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered. PMID:26399846

  17. Congenital spinal malformations; Kongenitale spinale Malformationen

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

    2001-12-01

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

  18. Congenital vascular malformations in scintigraphic evaluation

    International Nuclear Information System (INIS)

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

  19. Valproic acid monotherapy in pregnancy and major congenital malformations

    DEFF Research Database (Denmark)

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

    2010-01-01

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

  20. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

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

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    Ştefan I. ŢIGAN

    2009-12-01

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

  2. Congenital malformations in twins in England and Wales.

    OpenAIRE

    Doyle, P E; Beral, V.; Botting, B; Wale, C J

    1991-01-01

    STUDY OBJECTIVE--The aim was to compare congenital malformation rates in twin births with those in singleton births. DESIGN--The study was an analysis of malformation rates in singleton and twin births using data from the Office of Population Censuses and Survey's Congenital Malformation Notification Scheme. SETTING--This was a national survey of births in England and Wales in 1979-1980 and 1982-1985. PARTICIPANTS--The data comprised 95,510 reported malformations in 3.7 million singleton birt...

  3. Urogenital tract anomalies in children with congenital anorectal malformation

    NARCIS (Netherlands)

    J.W. Hoekstra

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find an e

  4. Socio- Cultural Variables Of Congenital Malformation In Newborns

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    Khan Zulfia

    1997-01-01

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

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

    Science.gov (United States)

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

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

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

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    Bengt Källén

    2014-01-01

    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.

  7. CORRECTIVE SURGERY OF CONGENITAL SCOLIOSIS WITH TYPE Ⅱ SPLIT SPINAL CORD MALFORMATION

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    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.

  8. Echography of congenital malformations of the central nervous system

    International Nuclear Information System (INIS)

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

  9. Antidepressant exposure during early pregnancy and congenital malformations

    DEFF Research Database (Denmark)

    Pedersen, Lars Henning

    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......Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss the...

  10. Urogenital tract anomalies in children with congenital anorectal malformation

    OpenAIRE

    Hoekstra, J.W.

    1991-01-01

    textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find an effective treatment. In the days of Assurbanipal, king of Assyria from 668 to 627 B.C., the library of Ninive contained a cuneiform tablet with a text about a child born without an anus (Scharli 197...

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

    Directory of Open Access Journals (Sweden)

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

    2015-01-01

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

  12. Lymphangiosarcoma complicating extensive congenital mixed vascular malformations.

    Science.gov (United States)

    Al Dhaybi, Rola; Agoumi, Mehdi; Powell, Julie; Dubois, Josée; Kokta, Victor

    2010-09-01

    Pediatric hepatic angiosarcoma is a very rare malignant vascular tumor. A few cases have shown pediatric hepatic angiosarcoma occurring on a background of preexisting vascular lesions. We report the case of a newborn girl who presented extensive limbs and upper trunk cutaneous mixed vascular malformations at birth. These malformations were associated with thrombocytopenia. Cutaneous biopsies revealed complex vascular malformations with a significant lymphatic component. Compressive body suit therapy led to regression of the limbs' cutaneous vascular malformations. At the age of 9 months, the patient presented multiple heterogeneous hepatosplenic nodules. Aggressive treatment with prednisone, vincristine, and hepatosplenic embolizations resulted in initial improvement of the hepatosplenic lesions for few months, followed by an increase of the lesions with failure of response to treatment despite adding alpha-interferon-2b to treatment. The patient died at the age of 19 months. The autopsy's pathological examination revealed a hepatic-based angiosarcoma with plurimetastatic dissemination to the spleen, lungs, peritoneum, pleura, mesenteric linings as well as the serosa of the stomach and small intestine. Multiple cutaneous and visceral complex capillaro-lymphatico-venous malformations were also identified. We hypothesize that these multiple extensive mixed vascular malformations were associated with chronic lymphedema which probably predisposed to the development of the angiosarcoma in our patient. PMID:20863270

  13. Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

    Science.gov (United States)

    Welshimer, K; Swift, M

    1982-09-01

    Heterozygous carriers of an ataxia-telangiectasia (A-T), Fanconi anemia (FA), or xeroderma pigmentosum (XP) gene may be predisposed to some of the same congenital malformations or developmental disabilities that are common among homozygotes. To test this hypothesis, medical records, death certificates, and questionnaires from 27 A-T families, 25 FA families, and 31 XP families were reviewed. Eleven XP blood relatives (out of 1,100) were found with moderate or severe unexplained mental retardation, a significant excess compared to the FA and A-T families (3/1,439). There were four microcephalic XP blood relatives and none in the FA or A-T families. In the A-T families, idiopathic scoliosis and vertebral anomalies were in excess, while genitourinary and distal limb malformations were found in the FA families. A-T, FA, or XP heterozygotes may constitute an important proportion of individuals at risk for specific malformations or developmental abnormalities. PMID:7124732

  14. Congenital malformations and maternal occupational exposure to glycol ethers

    NARCIS (Netherlands)

    Cordier, S; Bergeret, A; Goujard, J; Ha, MC; Ayme, S; Calzolari, E; DeWalle, HEK; KnillJones, R; Candela, S; Dale, [No Value; Dananche, B; deVigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-01-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during preg nanc

  15. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  16. Sex and congenital malformations: An international perspective

    NARCIS (Netherlands)

    Lisi, A.; Botto, L.D.; Rittler, M.; Castilla, E.; Botting, B.; De Walle, H.; Erickson, J.D.; Gatt, M.; De Vigan, C.; Irgens, L.; Johnson, W.; Lancaster, P.; Merlob, P.; Mutchinick, O.M.; Ritvanen, A.; Robert, 28033; Scarano, G.; Stoll, C.; Mastroiacovo, P.

    2005-01-01

    The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or synd

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

    Institute of Scientific and Technical Information of China (English)

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

    2007-01-01

    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

  18. Management of antenatally diagnosed pulmonary sequestration associated with congenital cystic adenomatoid malformation

    OpenAIRE

    Samuel, M; BURGE, D.

    1999-01-01

    BACKGROUND—Sequestration with associated cystic adenomatoid malformation is rare. A study was undertaken to determine whether pulmonary sequestration associated with congenital cystic adenomatoid malformation has a more favourable natural history than that of sequestration without associated cystic adenomatoid malformation.
METHODS—An outline of the postnatal work up leading to the management of extralobar or intralobar pulmonary sequestration with congenital cystic ad...

  19. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    Directory of Open Access Journals (Sweden)

    Boes Aaron D

    2011-12-01

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

  20. Electroencephalography in congenital malformations of the central nervous system

    Directory of Open Access Journals (Sweden)

    Patrícia Campos

    1994-12-01

    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.

  1. Prenatal diagnosis of congenital renal and urinary tract malformations

    OpenAIRE

    Hindryckx, A.; De Catte, L.

    2011-01-01

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

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

    Science.gov (United States)

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

    2016-08-01

    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. PMID:26561359

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

    Science.gov (United States)

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

    2016-08-01

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    OpenAIRE

    Moréh Zsuzsanna; Voicu Lucia Sanda

    2013-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Moréh Zsuzsanna

    2013-02-01

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

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

    Directory of Open Access Journals (Sweden)

    Saminathan

    2015-05-01

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

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

    Directory of Open Access Journals (Sweden)

    Chengming Fan

    2015-01-01

    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.

  9. Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

    Science.gov (United States)

    Pelizzo, Gloria; Costanzo, Federico; Andreatta, Erika; Calcaterra, Valeria

    2016-08-01

    Congenital pulmonary airway malformations (CPAMs) include cystic and non-cystic lung lesions. These represent about 30-40% of developmental lung bud anomaly lesions mainly diagnosed during pregnancy or in newborn infants; or sometimes they remain undetected until adult life. The malformation usually presents as a sporadic, non-hereditary lung abnormality, with no predilection for the right or left lung, sex or race. CPAMs vary in their histological features, epidemiological and clinical presentation, severity and prognosis, supporting the embryologic hypothesis of arrested lung growth during branching morphogenesis. The existence of "hybrid" forms underline the possible common pathogenic mechanism involved in the development of different lesion types; a genetic role has also been proposed in abnormal lung development. Influence of the natural history on pre and postnatal management is relevant. Surgical resection is the standard of therapy for symptomatic CPAMs, while the management of asymptomatic cases remains controversial. The potential risk of infection and malignancy in CPAMs justifies complete surgical resection in the first year of life; while long term follow-up is required in children who do not undergo surgery. A multidisciplinary team including gynecologists, neonatologists, radiologists, pediatricians and pediatric surgeons is recommended in pre, postnatal management and in the postsurgical follow-up of all children with CPAMs. PMID:26365821

  10. Mutations of connexin43 in fetuses with congenital heart malformations

    Institute of Scientific and Technical Information of China (English)

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

    2005-01-01

    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.

  11. Outcomes of Congenital Cystic Lung Malformations in Children and Their Management According to Clinical Progression

    Directory of Open Access Journals (Sweden)

    Galyagina N.А.

    2014-06-01

    Full Text Available The aim of the investigation was to analyze the outcomes of congenital cystic lung malformations in children in accordance with clinical manifestations in pre- and postnatal period, and justify the management of patients. Materials and Methods. We analyzed retrospectively 45 cases of congenital cystic lung malformations treated over a period from 2005 to 2012 in two main children hospitals in Nizhny Novgorod. Results. Congenital cystic adenomatoid malformation (CCAM is the most common congenital cystic lesion of the lung (60%. Nearly half children with this pathology have no respiratory signs in neonatal period, and in 22.2% cases there are no manifestations in early childhood either. Three cases were found to have spontaneous regression of CCAM. Cystic adenomatoid malformation and solitary congenital cysts have the most favorable prognosis if prenatal lung lesions are early detected and there are no associated congenital malformations. Only 13% children (28.8% required surgical resection of cystic lung malformations. The survival rate of children with cystic lung malformations after surgery was 92.3%. Conclusion. Favorable outcomes of pregnancies with cystic lung diseases constituted the majority (86.7% of cases. Operative treatment is indicated if there are respiratory failure signs or recurrent respiratory infections.

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

    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...

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

    NARCIS (Netherlands)

    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

    2004-01-01

    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

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

    OpenAIRE

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

    2000-01-01

    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 Tu...

  16. Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations

    NARCIS (Netherlands)

    Wijers, Charlotte H. W.; van Rooij, Iris A. L. M.; Rassouli, Roxana; Wijnen, Marc H.; Broens, Paul M. A.; Sloots, Cornelius E. J.; Brunner, Han G.; De Blaauw, Ivo; Roeleveld, Nel

    2015-01-01

    Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental subfertility, ovulation induction, or the treatment itself is involved. Therefore, we investigated the odds of anorectal malformations among c

  17. Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)

    OpenAIRE

    Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

    2014-01-01

    Patient: Female, 6 Final Diagnosis: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: — Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Congenital defects Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or...

  18. Profile of gross congenital malformations among live newborns and its associated risk factors from a tertiary care rural teaching institute

    OpenAIRE

    Ashish Marwah; Poonam Marwah

    2016-01-01

    Background: Congenital malformations are defects in morphogenesis during early fetal life. The objective was to study the profile of gross congenital malformations among live newborns and its associated risk factors from a tertiary care rural teaching hospital of north India. Methods: It is a cross- sectional, descriptive. All the babies born in the hospital (live births) during January 2014 to December 2014 formed the baseline population and those with gross congenital malformations were...

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

    Science.gov (United States)

    Istek, Seref

    2014-06-04

    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.

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

    Directory of Open Access Journals (Sweden)

    Saiyad SS

    2012-04-01

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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

    and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformations after first trimester in utero exposure to venlafaxine or duloxetine. We identified eight cohort...... studies reporting on the outcome upon in utero exposure to venlafaxine or duloxetine during the first trimester. The cumulated data for venlafaxine were 3186 exposed infants and 107 major malformations, resulting in a relative risk estimate and 95% confidence interval of 1.12 (0.......92-1.35). The corresponding data for duloxetine were 668 infants and 16 major malformations, resulting in a relative risk estimate and 95% confidence interval of 0.80 (0.46-1.29). First-trimester in utero exposure to venlafaxine is not associated with an increased risk of major congenital malformations. The amount of data...

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    pregnancy. In Denmark, women comprise half of those enrolled in vocational paint training. We investigated the association between maternal and paternal occupational painting, respectively, and the risk of congenital malformations among children. METHODS: National register data were used to link childbirths...... diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female......, 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...

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

    International Nuclear Information System (INIS)

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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

    . 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...

  5. Surveillance of congenital malformations in Belarus. Chernobyl aftermath

    International Nuclear Information System (INIS)

    Full text: In order to study possible genetic effects of the Chernobyl accident in human population a comparative analysis of the prevalence at birth of congenital malformations (CM) was performed on region and area administrative levels basing on the data of Belarus registry of CM permanently functioning since 1979. An attempt was made to evaluate dose dependence of the effects under study. We analyzed time trends of the prevalence at birth of 9 so called 'mandatory registered' nosologic units of CM. These group of CM could be easily diagnosed within the neonatal period and were assigned for registration at creation of the registry. Over 12 thousand cases registered within the period of 1981 to 2004 in 4 regions as well as about 3 thousand cases found in 47 rayons highly contrasting by radiation exposure were scrutinized. No long-term impact of the Chernobyl release on prevalence rates of surveyed CM was shown. Since the middle 80-s a similar steady increasing trend was observed as in contaminated, as in control areas with a tendency to stabilization after middle 90-s. We fail to reveal a dose dependence for CM prevalence rates calculated for the whole post-accidental period. Nonetheless, during the first years after the accident situation in contaminated areas was notably different from those in the control. Within the period of 1987 to 1989 a significant access of CM prevalence was registered in the strict radiological control area (Cs 137 soil contamination over 555 kBq/m2) as compared to non-contaminated zone. Relative risk was estimated as RR1987-1989 = 1.57 with 95% confidence interval being 95%CI = [1.29; 1.89]. Before the accident no difference in prevalence rates was marked (RR1981-1986 = 0.93; 95%CI = [0.80; 1.09]); nor it was evident in the farther post-accidental period (RR1990-2004 = 0.99; 95%CI = [0.80; 1.09]). Anomalies with high contribution of dominant de novo mutations (polydactyly, reduction defects of limbs and multiple CM) played principal

  6. Folic acid and congenital malformation: scientific evidence and public health strategies

    OpenAIRE

    Salerno, Paolo; Bianchi, Fabrizio; Pierini, Anna; Baldi, Francesca; Carbone, Pietro; Mantovani, Alberto; Taruscio,Domenica

    2008-01-01

    In Italy at least 3% of babies are born with some congenital malformation. The intake of folic acid (FA) prior to conception and during the early stages of pregnancy plays an important role in preventing neural tube defects, severe anomalies of brain embryogenesis, and other malformations such as cardiac and urinary tract anomalies, oro-facial clefts and limb reduction defects. The Italian Network for Folic Acid Promotion, coordinated by the National Center on Rare Diseases of the Italian Nat...

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

    DEFF Research Database (Denmark)

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

    2001-01-01

    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...

  8. Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

    Energy Technology Data Exchange (ETDEWEB)

    Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in; Mammen, Suraj, E-mail: surajmammen77@gmail.com [Christian Medical College, Department of Radiology (India); David, Sarada, E-mail: saradadavid@gmail.com [Christian Medical College, Department of Ophthalmology (India); Sen, Sudipta, E-mail: paedsur@cmcvellore.ac.in [Christian Medical College, Department of Pediatric Surgery (India)

    2015-04-15

    PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.

  9. Congenital malformations and assisted reproductive technique: Where is assisted reproductive technique taking us?

    Directory of Open Access Journals (Sweden)

    Sunita Tandulwadkar

    2012-01-01

    Full Text Available Development of ART has great benefit for millions of couples all over the world and with falling fertility rate there are a growing numbers of children born with the help of ART, it is important to investigate potential risks to these children. IVF-ICSI pregnancies are associated with higher risk for multiple gestation, preterm labor and low birth weight. It is an area of great conflict and interest that whether ART is associated with increased congenital malformations or not. So, this article reviews the data and evidences linking ART to congenital malformations.

  10. TYPE I CONGENITAL CYSTIC ADENOID MALFORMATION CAUSING RIGHT MEDIASTINAL SHIFT IN A TWO YEARS OLD CHILD

    Directory of Open Access Journals (Sweden)

    Mayuri A

    2014-07-01

    Full Text Available Congenital cystic adenomatoid malformations (CCAM of lung are rare, congenital, cystic, developmental hamartomatous malformation of lung, arising from excessive disorganized proliferation of tubular bronchial structures. Very few cases have been reported in literature. Although it is a disorder of infancy, majority of cases are being diagnosed within first two years of life. We describe CCAM in two years old girl who presented with recurrent lower respiratory tract infections, since infancy and had type I CCAM of upper and middle lobe causing mediastinal shift to right

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

    Directory of Open Access Journals (Sweden)

    İlyas Yolbaş

    2013-12-01

    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

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

    DEFF Research Database (Denmark)

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

    2014-01-01

    Cohort. POPULATION: A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. METHODS: Logistic regression analysis was used to calculate the odds of congenital malformations as a function of job......OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth...... strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression...

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

    International Nuclear Information System (INIS)

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

  14. Bisphenol A induces otolith malformations during vertebrate embryogenesis

    Directory of Open Access Journals (Sweden)

    Demeneix Barbara

    2011-01-01

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

  15. 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

    Directory of Open Access Journals (Sweden)

    Schmidt D

    2010-02-01

    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.

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

    Science.gov (United States)

    Al-Saleem, Afnan I; Al-Jobair, Asma M

    2016-01-01

    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. PMID:27143854

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

    Directory of Open Access Journals (Sweden)

    Al-Saleem AI

    2016-04-01

    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

  18. Multimodality imaging and interventional management of a complex congenital vascular malformation

    Directory of Open Access Journals (Sweden)

    Aadil Ahmed

    2010-06-01

    Full Text Available Hepatic vascular lesions are not an uncommon finding in children, and represent the most common benign liver tumours to present in infancy. We present a case of a complex vascular malformation with an intrahepatic component suggestive of a venous/arteriovenous malformation as well as a large extrahepatic lesion. The extrahepatic mass was present in both sub- and supra-diaphragmatic locations ,with features of a congenital haemangioma. In view of the clinical presentation and different imaging appearances, this case was felt to be interesting in its radiological workup, management and eventual unusual pathology.

  19. The Frequency of Giving Birth to Babies with Congenital Malformation and Affecting Factors

    Directory of Open Access Journals (Sweden)

    Binali Catak

    2014-12-01

    Full Text Available AIM : It has been aimed with this study to identify the level of delivering baby with congenital malformations and affecting factors at women who had given birth at least once in Burdur. METHODS: According to provincial health directorate, the number of women who was pregnant on 30 June 2010 is 1,532, and 958 of these women have experienced at least one pregnancy previously. The universe of this conducted cross-sectional type research has been comprised of 958 women who had experienced pregnancy once at least. A sample was not selected in the study; it was aimed to reach the whole of universe. The data have been gathered, after getting necessary permissions, between the dates of 15 March and ndash; 21 June 2010 with a questionnaire and face to face. The data were analyzed in SPSS 10,5 package program. RESULTS: Congenital malformation prevalence in Burdur is 4,2%. Delivering babies with congenital malformation is 2,5 times (OR:1,1 and ndash;5,4 more in mothers 35 years of age or older with reference to 34 years of age and younger mothers. Delivering babies with congenital malformation is 2,9 times greater (OR:1,4 and ndash;5,7 in fathers whose education level are primary and under with reference to fathers whose education level are secondary and higher; 8 times greater (OR:2,2 and ndash;21,3 in mothers who had stillbirths with reference to mothers who had not stillbirths; 3,4 times greater (OR:1,0 and ndash;11,5 in mothers whose children died before the age of 5 with reference to mothers whose children not died before the age of 5. CONCLUSiON: In conclusion, congenital malformation prevalence is similar with the data of Turkey. For prevention of congenital malformations prenatal care as sufficient number and quality should be provided to the mothers who were over 35 years and above, child death below 5 years or had stillbirths and had educatiol level as primary education or less. [TAF Prev Med Bull 2014; 13(6.000: 445-450

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-02-15

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

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

    LENUS (Irish Health Repository)

    Collins, Anne M

    2012-02-01

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

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

    DEFF Research Database (Denmark)

    Ennis, Zandra Nymand; Damkier, Per

    2015-01-01

    To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first....../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...... of congenital malformation. Data for quetiapine and risperidone do not suggest a substantially increased risk, while the risk estimate for aripiprazole remains imprecise owing to a low amount of data....

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

    CERN Document Server

    Overholt, A C; Atri, D

    2015-01-01

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

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

    International Nuclear Information System (INIS)

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

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

    Science.gov (United States)

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

    2016-09-01

    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.

  6. Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

    OpenAIRE

    Welshimer, K; Swift, M

    1982-01-01

    Heterozygous carriers of an ataxia-telangiectasia (A-T), Fanconi anemia (FA), or xeroderma pigmentosum (XP) gene may be predisposed to some of the same congenital malformations or developmental disabilities that are common among homozygotes. To test this hypothesis, medical records, death certificates, and questionnaires from 27 A-T families, 25 FA families, and 31 XP families were reviewed. Eleven XP blood relatives (out of 1,100) were found with moderate or severe unexplained mental retarda...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2005-12-01

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

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

    International Nuclear Information System (INIS)

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

  9. Prevalence and Factors Associated with Congenital Malformations in Tirana, Albania, During 2011-2013

    OpenAIRE

    Çanaku, Dorina; Toçi, Ervin; Roshi, Enver; Burazeri, Genc

    2014-01-01

    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 birth during 2011-2013 was retrieved from the National CM Surveillance System. For each CM case, three controls (babies born without CM) were retrieved as well. Overall, 831 cases and 2522 controls wer...

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

    OpenAIRE

    Al-Saleem AI; Al-Jobair AM

    2016-01-01

    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 epi...

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

    Science.gov (United States)

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

    1983-01-01

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

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

    Science.gov (United States)

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

    2011-12-01

    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.

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

    International Nuclear Information System (INIS)

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

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

    Directory of Open Access Journals (Sweden)

    Matthew P. Shupe

    2014-01-01

    Full Text Available Congenital pulmonary airway malformation (CPAM, previously referred to as congenital cystic adenomatoid malformation (CCAM, is a developmental malformation of the lower respiratory tract and the most commonly reported congenital lung lesion. Affected patients typically present with respiratory distress in the neonatal period from expanding cysts and resulting compression of surrounding lung parenchyma. However, some patients also remain asymptomatic until later in life. In this report, we present a case of CPAM requiring emergent left lower lobectomy at the first day of life that remained asymptomatic until the patient developed a spontaneous pneumothorax 18 years later. Our patient's presentation with an isolated spontaneous pneumothorax at age 18 does not appear to have been previously reported. In addition, there are several aspects of this case that represent atypical features of CPAM. After an extensive literature search, few reports exist describing any long-term complications of CPAM following neonatal lobectomy. Chest imaging in our patient demonstrated residual left basilar bullae and there was a moderate fixed obstructive/restrictive defect on pulmonary function testing. His risk for recurrent pneumothorax or infectious complications is unknown based on minimal published information on long-term outcomes or complications in patients with resected CPAM lesions. We conclude that follow up of all CPAM patients should include an evaluation for evidence of residual lung disease both with spirometric testing and chest imaging. Furthermore, concern for infectious complications or symptomatic obstructive lung disease should likewise be considered.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-07-15

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

  16. Congenital malformations and genetic diseases in comic books.

    Science.gov (United States)

    Mégarbané, A; Adib, S M

    2003-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-05-17

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

  18. Magnetic resonance and computed tomographic features of 4 cases of canine congenital thoracic vertebral anomalies.

    Science.gov (United States)

    Berlanda, Michele; Zotti, Alessandro; Brandazza, Giada; Poser, Helen; Calò, Pietro; Bernardini, Marco

    2011-12-01

    Magnetic resonance and computed tomography features of 4 cases of canine congenital vertebral anomalies (CVAs) are discussed. Two of the cases represent unusual presentations for such anomalies that commonly affect screw-tail or toy breeds. Moreover, the combination of CVAs and a congenital peritoneo-pericardial diaphragmatic hernia has never before been imaged. PMID:22654139

  19. Magnetic resonance and computed tomographic features of 4 cases of canine congenital thoracic vertebral anomalies

    OpenAIRE

    Berlanda, Michele; Zotti, Alessandro; Brandazza, Giada; Poser, Helen; Calò, Pietro; Bernardini, Marco

    2011-01-01

    Magnetic resonance and computed tomography features of 4 cases of canine congenital vertebral anomalies (CVAs) are discussed. Two of the cases represent unusual presentations for such anomalies that commonly affect screw-tail or toy breeds. Moreover, the combination of CVAs and a congenital peritoneo-pericardial diaphragmatic hernia has never before been imaged.

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

    Science.gov (United States)

    Brent, Robert L

    2011-10-01

    • 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

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

    Science.gov (United States)

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

    2015-01-01

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

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

    International Nuclear Information System (INIS)

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

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

    Directory of Open Access Journals (Sweden)

    Kumar Basant

    2008-01-01

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

  4. A congenital malformation of the systemic heart complex in Sepia officinalis L. (Cephalopoda)

    Science.gov (United States)

    Schipp, R.; von Boletzky, S.; Jakobs, P.; Labourg, P. J.

    1998-03-01

    In semi-adult Sepia officinalis L. (Cephalopoda) from the Bay of Arcachon (France) a congenital malformation of the systemic heart is described by macro-and microscopical methods. It concerns an atypical doubling of the site of insertion at the cephalic aorta at the apical ventricle. Its comparison with the paired anlagen of the systemic heart complex in normal embryogenesis and the central circulatory system of Nautilus gives rise to interpret it as a form of atavism. The possible causal role of mutagenic antifoulings is discussed.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-05-01

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

  6. [Folic acid and congenital malformation: scientific evidence and public health strategies].

    Science.gov (United States)

    Salerno, P; Bianchi, F; Pierini, A; Baldi, F; Carbone, P; Mantovani, A; Taruscio, D

    2008-01-01

    In Italy at least 3% of babies are born with some congenital malformation. The intake of folic acid (FA) prior to conception and during the early stages of pregnancy plays an important role in preventing neural tube defects, severe anomalies of brain embryogenesis, and other malformations such as cardiac and urinary tract anomalies, oro-facial clefts and limb reduction defects. The Italian Network for Folic Acid Promotion, coordinated by the National Center on Rare Diseases of the Italian National Institute of Health, has elaborated and diffused a recommendation for the periconceptional FA supplementation: "Women of child-bearing age, are recommended to consume 0,4 mg/day of FA, to reduce the risk of congenital defects. The intake of folic acid should start at least one month before the conception and should continue for the first quarter of pregnancy". This paper discusses various strategies in order to promote FA intake during periconceptional period. Food fortification, adopted in several countries such as USA, has raised concerns about the risk of an excessive FA intake which may lead to adverse effect such as tumour promotion. Currently, periconceptional supplementation and healthy dietary habits promotion appear to be the most effective strategies. PMID:19238877

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

    Science.gov (United States)

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

    2015-11-01

    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.

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

    Science.gov (United States)

    Simán, M

    1997-01-01

    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

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

    International Nuclear Information System (INIS)

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

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

    NARCIS (Netherlands)

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

    2014-01-01

    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

  11. Congenital Malformations: Report of 5 Rare Cases Seen in 20 Years (1994-2014 in Cameroon and Review of Literature

    Directory of Open Access Journals (Sweden)

    Enow Orock GE

    2016-03-01

    Full Text Available We report 5 rare congenital malformations found in 20 years of practice (1994-2014 in our service amongst 3 females and 2 males. Multisystem malformations involve more than one system and are rare. We found a case of amelia (lower limb associated with gastroschisis, congenital bilateral polycystic kidneys, unilateral uterine adnexal agenesis fortuitously discovered in an adult and a congenital huge haemangioma of the nasal tip and dorsum giving a ‘clown nose deformity’. Most spectacularly, we describe a foetus born with extra oral location of all organs of the gastrointestinal tract enclosed in a thin transparent membrane. To the best of our knowledge this condition has not been described before and so we decided to call it ‘entero-oro exogenesis’ and ascribe to it the eponym ‘Enow Orock syndrome’ in reference to the pathologist who first described it. In all our cases, no etiological factor could be attributed to any of the conditions due largely to lack of collaboration from the affected families and logistic challenges. The only recurring risk factor that was common to all our cases was a low socioeconomic status of parents of the patients. Malformations are not rare in our community. The absence of a congenital malformation registry makes data on the disease difficult to obtain in Cameroon. We recommend that a national registry for the condition be created and public education intensified on birth defects in our community.

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

    Directory of Open Access Journals (Sweden)

    C.B. Santos

    2000-12-01

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

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

    Directory of Open Access Journals (Sweden)

    Lucky Gupta

    2014-02-01

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

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

    Science.gov (United States)

    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

    2016-09-01

    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.

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

    Science.gov (United States)

    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

    2016-09-01

    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. PMID:27545676

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

    Directory of Open Access Journals (Sweden)

    İsmail Yılmaz

    2015-06-01

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

  17. The problem of vaginismus with congenital malformation of the genital tract.

    Science.gov (United States)

    Jarząbek-Bielecka, Grażyna; Pisarska-Krawczyk, Magdalena; Kędzia, Witold; Mizgier, Małgorzata; Friebe, Zbigniew

    2016-01-01

    The persistent or recurrent difficulties of the woman to allow vaginal entry of a penis, a finger, and/or any object, despite the woman's expressed wish to do so" is vaginismus. Early traumatic sexual experiences (e.g. sexual abuse), religious orthodoxy, low self-esteem and body image, negative attitudes about sexuality, lack of knowledge about sex and fear responses are some of the traditional etiological correlates of vaginismus. Vaginismus is largely a diagnosis of exclusion. An interview is crucial in differentiating the causes of this disease and it should involve the following key questions: -whether the contraction of the vaginal muscles was recorded from the first sexual contact and still remains a need for sexual satisfaction is achieved without relations vaginal or -symptom occurs for some time and what circumstances it bound or -contraction of the muscles is independent of the will, reflex and is at the very idea of sexual intercourse, and -that the contraction of the vaginal muscles occurs when you try to enter the member into the vagina which is very painful. The physical, gynecological and sexuological examinations exclude local causes of the disease. The mainstay of treatment in the majority of cases is psychosexual support. The cause of organic vaginismus is congenital malformation of the genital tract. It results from abnormal development of genital paramesonephric (Müllerian) ducts and the urogenital sinus, which are structures involved in the process of oviduct, uterus, and vagina organogenesis. This has strong implications in the practices of gynecology and sexuology in general, not only in adolescent gynecology and sexuology. Vaginismus with congenital malformation is an important problem in these fields. PMID:27333925

  18. Maternal psychological distress and placental circulation in pregnancies after a previous offspring with congenital malformation.

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    Anne Helbig

    Full Text Available INTRODUCTION: Antenatal maternal psychological distress may be associated with reduced placental circulation, which could lead to lower birthweight. Studies investigating this in humans show mixed results, which may be partially due to type, strength and timing of distress. In addition, the arterial vascular resistance measures often used as outcome measures do not detect smaller changes in placental volume blood flow. We aimed to investigate the effect of a specific stressor, with increased levels of stress early in pregnancy, on the fetoplacental volume blood flow in third trimester. METHODS: This was a prospective observational study of 74 pregnant women with a congenital malformation in a previous fetus or child. Psychological distress was assessed twice, around 16 and 30 weeks' gestation. Psychometric measures were the General Health Questionnaire-28 (subscales anxiety and depression, Edinburgh Postnatal Depression Scale, and Impact of Event Scale-22 (subscales intrusion, avoidance, and arousal. Placental circulation was examined at 30 weeks, using Doppler ultrasonography, primarily as fetoplacental volume blood flow in the umbilical vein, normalized for abdominal circumference; secondarily as vascular resistance measures, obtained from the umbilical and the uterine arteries. RESULTS: Maternal distress in second but not third trimester was associated with increased normalized fetoplacental blood flow (P-values 0.006 and 0.013 for score > mean for depression and intrusion, respectively. Post-hoc explorations suggested that a reduced birthweight/placental weight ratio may mediate this association. Psychological distress did not affect vascular resistance measures in the umbilical and uterine arteries, regardless of adjustment for confounders. CONCLUSIONS: In pregnant women with a previous fetus or child with a congenital malformation, higher distress levels in second trimester were associated with third trimester fetoplacental blood flow that

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

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    Kruse Alexandra Y

    2012-12-01

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

  20. Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs.

    Science.gov (United States)

    Ji, Yongchang; Buel, Sharleen M; Amack, Jeffrey D

    2016-08-01

    Pitx2 is a conserved homeodomain transcription factor that has multiple functions during embryonic development. Mutations in human PITX2 cause autosomal dominant Axenfeld-Rieger syndrome (ARS), characterized by congenital eye and tooth malformations. Pitx2(-/-) knockout mouse models recapitulate aspects of ARS, but are embryonic lethal. To date, ARS treatments remain limited to managing individual symptoms due to an incomplete understanding of PITX2 function. In addition to regulating eye and tooth development, Pitx2 is a target of a conserved Nodal (TGFβ) signaling pathway that mediates left-right (LR) asymmetry of visceral organs. Based on its highly conserved asymmetric expression domain, the Nodal-Pitx2 axis has long been considered a common denominator of LR development in vertebrate embryos. However, functions of Pitx2 during asymmetric organ morphogenesis are not well understood. To gain new insight into Pitx2 function we used genome editing to create mutations in the zebrafish pitx2 gene. Mutations in the pitx2 homeodomain caused phenotypes reminiscent of ARS, including aberrant development of the cornea and anterior chamber of the eye and reduced or absent teeth. Intriguingly, LR asymmetric looping of the heart and gut was normal in pitx2 mutants. These results suggest conserved roles for Pitx2 in eye and tooth development and indicate Pitx2 is not required for asymmetric looping of zebrafish visceral organs. This work establishes zebrafish pitx2 mutants as a new animal model for investigating mechanisms underlying congenital malformations in ARS and high-throughput drug screening for ARS therapeutics. Additionally, pitx2 mutants present a unique opportunity to identify new genes involved in vertebrate LR patterning. We show Nodal signaling-independent of Pitx2-controls asymmetric expression of the fatty acid elongase elovl6 in zebrafish, pointing to a potential novel pathway during LR organogenesis. PMID:27297886

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

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    Fabricio González-Andrade

    2010-04-01

    Full Text Available Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class.Methods: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry.Results: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9% and 7053 were female (42.1%. BPR in males was 40.45 and in

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

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    S. W. Siswanti

    2014-12-01

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

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

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    D. V. Dmitrenko

    2014-01-01

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

  4. A population-based study relevant to seasonal variations in causes of death in children undergoing surgery for congenital cardiac malformations

    OpenAIRE

    Eskedal, Leif T.; Hagemo, Petter S.; Eskild, Anne; Frøslie, Kathrine F; Seiler, Stephen; Thaulow, Erik

    2007-01-01

    Aims: Our objectives were, first, to study seasonal distribution of perioperative deaths within 30 days after surgery, and late death, in children undergoing surgery for congenitally malformed hearts, and second, to study the causes of late death. Methods: We analysed a retrospective cohort of 1,753 children with congenital cardiac malformations born and undergoing surgery in the period from 1990 through 2002 with a special focus on the causes of late death. The data was obtained from the...

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

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    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.

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

    International Nuclear Information System (INIS)

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

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

    Institute of Scientific and Technical Information of China (English)

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

    2007-01-01

    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.

  8. Vertebral and Intraspinal Anomalies in Indian Population with Congenital Scoliosis: A Study of 119 Consecutive Patients

    Science.gov (United States)

    S, Rajasekaran; G, Balamurali; Shetty, Ajoy

    2016-01-01

    Study Design Retrospective case study by clinical and radiological data analysis. Purpose To analyze different types of vertebral anomalies and the incidence of associated intraspinal anomalies in the Indian population. Overview of Literature This is the largest study of congenital scoliosis and associated intraspinal anomalies in Indian population. Incidence of intraspinal anomaly in this series is 47% which is higher than previous literature. Hemivertebra was the most common anomaly as seen in previous studies. Methods A total of 119 patients with congenital scoliosis who underwent surgery between December 2006 and December 2012 were studied. Data was reviewed with medical records, plain radiographs, and magnetic resonance imaging (MRI) scans. Results Thoracolumbar curve was most common, seen in 43.6% of patients. In addition to scoliotic deformity, kyphosis was seen in 26% of patients. Failure of formation, the most common vertebral anomaly, was seen in 51.2% of patients, failure of segmentation was seen in 19.3% of patients, and there were 29.4% patients having both formation and segmentation anomalies. Hemivertebra was the most common vertebral anomaly seen in 66.3% of patients and for whom 63.2% were in thoracic spine. Intraspinal anomalies were associated with 47% of patients with congenital scoliosis. Tethered cord was the most common intraspinal abnormality and was found in 48.2% patients with intraspinal anomalies. The patients with failure of segmentation and mixed deformities were found to have a significantly higher incidence of intraspinal anomalies (65% and 57%, respectively) than those with failure of formation (34%). Out of 31 patients with kyphotic deformity 29% had intraspinal anomalies, and amongst them tethered cord was the most common anomaly seen in 66% patients. Out of 12 patients with neurocutaneous markers, 83% patients had intraspinal anomaly. Conclusions Intraspinal anomalies were seen in 47% of patients with congenital scoliosis in the

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

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    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

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

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    Peter Agergaard

    2011-02-01

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

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

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    Rajeshwari C

    2014-04-01

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

  12. 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.

    Science.gov (United States)

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

    2014-01-01

    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.

  13. Fetal diastematomyelia associated with vertebral malformation: ultrasound, MRI, and pathomorphological findings.

    Science.gov (United States)

    Korostyshevskaya, Aleksandra; Makogon, Arkadiy; Savelov, Andrey; Avdeeva, Darya; Tulupov, Andrey

    2015-10-01

    Using a specific clinical example, we demonstrate the ability of prenatal magnetic resonance imaging (MRI) to diagnose associated spine and spinal cord malformations in the group of spinal dysraphisms. Thus, the original ultrasound (US) and MRI results for the affected fetus at week 21 are illustrated and described in detail. The paucity of reports of prenatal MR-semiotic findings of split cord malformation comparing US and pathomorphological findings at a relatively early gestational age makes the present case unique and instructive. The outstanding capability of MRI to diagnose spinal pathologies indicates the necessity of including prenatal MRI in the diagnostic algorithm to determine the severity of the lesions and the appropriate management during pregnancy, childbirth, and the early postnatal period. PMID:26576982

  14. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

    NARCIS (Netherlands)

    Dworschak, G.C.; Draaken, M.; Marcelis, C.; Blaauw, I. de; Pfundt, R.P.; Rooij, I.A.L.M. van; Bartels, E.; Hilger, A.; Jenetzky, E.; Schmiedeke, E.; Grasshoff-Derr, S.; Schmidt, D.; Marzheuser, S.; Hosie, S.; Weih, S.; Holland-Cunz, S.; Palta, M.; Leonhardt, J.; Schafer, M.; Kujath, C.; Rissmann, A.; Nothen, M.M.; Zwink, N.; Ludwig, M.; Reutter, H.

    2013-01-01

    Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects

  15. 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.

    Science.gov (United States)

    Watson, A G; Bonde, R K

    1986-01-01

    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.

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

    Science.gov (United States)

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

    2015-04-01

    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.

  17. Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire.

    OpenAIRE

    David, T J; McCrae, F C; Bound, J. P.

    1983-01-01

    The necropsy reports of 174 cases of anencephaly, born in the Fylde peninsula of Lancashire between 1957 and 1980, have been analysed for the presence of other malformations. The results were compared with a similar previous series from Bristol, though the Bristol study differed both in time (1948 to 1975) and in the fact that it was hospital based and, unlike the present study, did not achieve near complete ascertainment. Of the Lancashire anencephalics, 24% had other malformations, a signif...

  18. 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

    Directory of Open Access Journals (Sweden)

    Lely A. Quina

    2012-11-01

    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

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

    NARCIS (Netherlands)

    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.

    2014-01-01

    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

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

    Science.gov (United States)

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

    1990-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Babita Ramani

    2014-08-01

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

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

    Directory of Open Access Journals (Sweden)

    Carlos Garrido-Allepuz

    2011-05-01

    Full Text Available Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA, and in mice that develop with reduced bone morphogenetic protein (Bmp signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

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

    OpenAIRE

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

    2009-01-01

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

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

    Science.gov (United States)

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

    2012-12-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-05-15

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

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

    International Nuclear Information System (INIS)

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

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

    Directory of Open Access Journals (Sweden)

    Sountoulides P

    2008-05-01

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

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

    Directory of Open Access Journals (Sweden)

    Zhang Yi

    2012-07-01

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

  9. 超声诊断胎儿先天性肾畸形的探讨%The study of diagnosing congenital renal malformations by ultrasound

    Institute of Scientific and Technical Information of China (English)

    周琦; Gardo.,J

    2000-01-01

    目的 探讨超声诊断胎儿先天性肾畸形的价值.方法 对美国加州-产前诊断中心10年中做产科超声的孕妇检查结果进行分析.结果 发现各种肾畸形占56例.分析各种畸形的声像图特点,不同类型肾畸形有不同声像图表现.结论 高分辨超声能准确地发现和诊断泌尿系畸形,在诊断胎儿先天性肾畸形中有重要价值.%Objective To study the value of ultrasound to diagnose congenital renal malformations.Methods The OB ultrasound examinations were analyzed in all Cases of the Alta Bates PerinataI Diagnostic center,Oakland,California,USA in 10 years.Results Fiftysix cases of different kinds of congenital renal malformations were analyzed.Different kinds of renal malformations had different images and were correlated to abnormality in embryonic developments.Conclusions Urinary tract abnormalities had a profound effect on pregnancy outcome and many urinary anomalies can be readily detected and diagnosed by ultrasound.Ultrasound is valuable in diagnosing fetal congenital renal malformations.

  10. Congenital stapes malformation: Rare conductive hearing loss in a patient with Waardenburg syndrome.

    Science.gov (United States)

    Melzer, Jonathan M; Eliason, Michael; Conley, George S

    2016-04-01

    Waardenburg syndrome is a known autosomal dominant cause of congenital hearing loss. It is characterized by a distinctive phenotypic appearance and often involves sensorineural hearing loss. Temporal bone abnormalities and inner ear dysmorphisms have been described in association with the disease. However, middle ear abnormalities as causes of conductive hearing loss are not typically seen in Waardenburg syndrome. We discuss a case of an 8-year-old female who meets diagnostic criteria for Waardenburg syndrome type 3 and who presented with a bilateral conductive hearing loss associated with congenital stapes fixation. We discuss management strategy in this previously unreported phenotype. PMID:26152551

  11. Congenital generalized hypertrichosis: The skin as a clue to complex malformation syndromes

    OpenAIRE

    PAVONE, P; Praticò, A.; Falsaperla, R.; Ruggieri, M.; Zollino, M; Corsello, G.; Neri, G

    2015-01-01

    Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution. Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whethe...

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

    Science.gov (United States)

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

    2015-11-01

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

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

    Institute of Scientific and Technical Information of China (English)

    沈杰; 田文; 赵俊会; 尹芳; 贺玉英

    2014-01-01

    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

  14. Interstitial 1q23.3q24.1 deletion in a patient with renal malformation, congenital heart disease, and mild intellectual disability.

    Science.gov (United States)

    Mackenroth, Luisa; Hackmann, Karl; Klink, Barbara; Weber, Julia Sara; Mayer, Brigitte; Schröck, Evelin; Tzschach, Andreas

    2016-09-01

    Interstitial deletions including chromosome region 1q23.3q24.1 are rare. Only eight patients with molecularly characterized deletions have been reported to date. Their phenotype included intellectual disability/developmental delay, growth retardation, microcephaly, congenital heart disease, and renal malformations. We report on a female patient with mild developmental delay, congenital heart disease, and bilateral renal hypoplasia in whom an interstitial de novo deletion of approximately 2.7 Mb in 1q23.3q24.1 was detected by array CGH. This is the smallest deletion described in this region so far. Genotype-phenotype comparison with previously published patients allowed us to propose LMX1A and RXRG as potential candidate genes for intellectual disability, PBX1 as a probable candidate gene for renal malformation, and enabled us to narrow down a chromosome region associated with microcephaly. © 2016 Wiley Periodicals, Inc. PMID:27255444

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-12-01

    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

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

    Directory of Open Access Journals (Sweden)

    Mohamed El Koumi

    2013-02-01

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

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

    Directory of Open Access Journals (Sweden)

    Ceylan Yavuz

    2005-04-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-07-01

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

  19. MRI对子宫先天发育畸形的诊断价值%The Value of MRI in Diagnosing Congenital Uterine Malformation

    Institute of Scientific and Technical Information of China (English)

    刘雨蒙; 马新星; 郭亮; 李勇刚

    2013-01-01

      目的探讨MRI对子宫先天发育畸形的诊断价值。方法回顾性分析20例子宫先天发育畸形的MRI和临床资料。结果双角子宫8例,完全型纵隔子宫6例,双角及纵隔子宫(部分型纵隔子宫)2例,双子宫1例,双子宫双阴道1例,单角子宫1例,幼稚子宫1例。结论 MRI能清楚地显示宫底外形轮廓和宫腔结构,可对子宫先天发育畸形进行准确的分型诊断,是子宫先天发育畸形的最佳无创性检查方法之一。%Objective To estimate the value of MRI in diagnosing congenital uterine malformation.Methods MRI and clinical data of 20 cases with diagnosis of congenital uterine malformation were retrospectively analyzed.Results There were 8 cases of bicornuate uterus,6 cases of complete septate uterus,2 cases of partial septate uterus(bicornuate uterus with lower uterine body septum extending through the cervix),1 case of uterus didelphys,1 case of uterus didelphys accompaniment longitudinal vaginal septum,1 case of unicornuate uteri and 1 case of uterine agenesis.Conclusion MRI can show stereoscopic view of uterine cavity configuration and fundus contour,and can distinguish different types of congenital uterine malformation accurately.Therefore,MRI is one of the best non-invasive methods in the diagnosis of congenital uterine anomalies.

  20. Gastrointestinal malformations

    DEFF Research Database (Denmark)

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

    2007-01-01

    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....

  1. METHANOL EXPOSURE DURING GASTRULATION CAUSES HOLOPROSENCEPHALY, FACIAL DYSGENESIS AND CERVICAL VERTEBRAL MALFORMATIONS IN C57BL/6J MICE

    Science.gov (United States)

    Exposure of pregnant CD-1 mice to methanol during the period of gastrulation results in exencephaly, cleft palate, and cervical vertebra malformations (Rogers and Mole, 1997, Teratology 55, 364). C57BL/6J mice are sensitive to the teratogenicity of ethanol; fetuses of this strai...

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

    Directory of Open Access Journals (Sweden)

    Antônio Flávio M Dantas

    2010-10-01

    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

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

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    Polyakov Marina

    2006-03-01

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

  4. QUALITY OF LIFE IN FAMILIES WITH CHILDREN UNDER 2 YEARS OLD AFFLICTED BY CONGENITAL MALFORMATIONS: PERSPECTIVE OF THE MAIN CARETAKER

    Directory of Open Access Journals (Sweden)

    BLANCA PATRICIA BALLESTEROS DE VALDERRAMA

    2006-10-01

    Full Text Available Some results of a larger research aimed to evaluate de quality of life of families with 0 to 2 years old children with genetic malformation are presented. Quality of life was analyzed related to the child’s age, other sociodemographic variables, the parent’s information about the malformation and the clinical characteristics of the diagnostic. A descriptive-correlational design was used, with group comparison by age and type of malformation. The ECLAMC instrument was used for the medical evaluation and a semi-structured interview was designed for the principal caregiver to evaluate the quality of life domains described by Rodríguez (1995, and the quality of the information about the malformation and its treatment. The final sample was constituted by 36 families, with 24 girls and 14 boys with diverse genetic malformations. Principal results showed no significant differences in the quality of life by the child’s gender or age, neither by the parents’ age. A significant relation was found between the type of malformation and the quality of life in the functional status domain, and between the mother’s occupation and the quality of information about the malformation and its treatment. Psychological functioning was the most affected domain. Results are discussed in the light of relevant information and the politics in health attention services.

  5. Aortic arch malformations

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-06-15

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

  6. Congenital Vascular Malformation

    Science.gov (United States)

    ... clots, obstruction of major vessels, causing progressive limb asymmetry by overgrowth, and for cosmetic indications or because ... t he Vascular Disease Foundation (VDF) develops educational information and initiatives for patients, their families and friends, ...

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

    Directory of Open Access Journals (Sweden)

    Hylas Paiva da Costa Ferreira

    2010-04-01

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

  8. Split Cord Malformations

    Directory of Open Access Journals (Sweden)

    Yurdal Gezercan

    2015-06-01

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

  9. 超声诊断胎儿先天性肾脏畸形的价值%Value of ultrasound in the diagnosis of congenital renal malformations

    Institute of Scientific and Technical Information of China (English)

    周琦; 纪宗正; Jim; Cardoza

    2005-01-01

    Objective To assess the value of ultrasound in diagnosis of congenital renal malformations. Methods The records of obstetric ultrasound examinations were reviewed in all the pregnant women admitted in Alta Bates Perinatal Diagnostic center (Oakland, California, USA) during 5 years. Results Ultrasound examination identified 58 cases of congenital renal malformations of different kinds, including 4 cases of renal agenesis, 8 multicystic dysplastic kidney, 5 cystic renal dysplasia with obstructions, 6 renal and ureteral duplications, 6 ectopic kidneys, 18 hydronephroses, 3 autosomal recessive polycystic kidney diseases, 2 autosomal dominant polycystic diseases, 1 Finnish-type congenital nephrosis, 3 Meckel-Gruber syndromes, and 2Beckwith-Wiedemann syndromes. Different renal malformations had different ultrasound findings that correlated to abnormalities in embryonic developments. Conclusions Urinary tract abnormalities have a profound effect on pregnancy outcome, especially when associated with oligohydramnios. Many urinary anomalies can be readily detected and diagnosed by ultrasound,which provides a useful modality in diagnosis of fetal congenital renal malformations. Clear understanding of the causes of these abnormalities facilitates prognostic evaluation and clinical decision on the treatment protocol.%目的探讨超声诊断胎儿先天性肾脏畸形的价值.方法对美国加州一产前诊断中心5年中做产科超声的孕妇检查结果进行分析.结果发现各种肾脏畸形占58例,其中肾发育不全者4例、多囊肾8例、梗阻引起的囊样肾畸型5例、肾与输尿管重复畸形6例、异位肾6例、肾积水18例、染色体隐性遗传的多囊肾疾病3例.染色体显性遗传的多囊肾疾病2例、先天性肾小球功能异常1例、Meckel-Gruber综合征3例、Beckwith-Wiedemann综合征2例.分析各种畸形的声像图特点,不同类型肾畸形有不同声像图表现,并与其胚胎发育过程异常相关.结论泌尿

  10. Refractory tension pneumothorax as a result of an internally displaced thoracoamniotic shunt in an infant with a congenital pulmonary airway malformation.

    Science.gov (United States)

    Law, Brenda Hiu Yan; Bratu, Ioana; Jain, Venu; Landry, Marc-Antoine

    2016-01-01

    Antenatally, congenital pulmonary airway malformation (CPAM) causing fetal hydrops can be palliated with thoracoamniotic shunts, which may become displaced in utero. We report a case of an infant born at 34 weeks gestational age with an antenatally diagnosed macrocystic lung lesion, fetal hydrops and an internally displaced thoracoamniotic shunt. The infant suffered refractory pneumothoraces despite multiple chest drains, and stabilised only after surgical resection of the lesion. Intraoperatively, the shunt was noted to form a connection between a type I CPAM and the pleural space. As the shunt was displaced internally, this complication was not immediately obvious during the initial resuscitation. In infants with large cystic lung lesions, clinicians should be aware that internally displaced thoracoamniotic shunts could contribute to refractory tension pneumothoraces and anticipate the need for advanced neonatal resuscitation, including early thoracocentesis or chest drain insertion. Furthermore, displaced shunts may require early surgical intervention. PMID:27469386

  11. 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

    Institute of Scientific and Technical Information of China (English)

    Feng Wang; Hong-Fei Wu; Jie Yang

    2009-01-01

    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.

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

    Science.gov (United States)

    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

    2016-11-01

    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. PMID:27342419

  13. Karyotype Analysis of 576 Cases of Congenital Malformations%576例先天畸形儿的染色体核型分析

    Institute of Scientific and Technical Information of China (English)

    黄红倩; 费冬梅; 欧阳鲁平; 刘天盛; 孙惟佳; 郑陈光

    2014-01-01

    Objective:By means of ultrasound diagnosis of congenital oaf fetal karyotype analysis ,we summarizes the relationship between the chromosomal abnormalities and deformed parts and number of deformity , providing the basis for prenatal diagnosis. Methods:From January 2009 to December 2013 in our hospital an amniocentest or cord blood puncture were performed byindications for prenatal diagnosis of congenital malformations ,576 cases of chromosome karyotype analysis of fetus, were investigate the relationship between the congenital oaf and chromosomal abnormalities. Results:The success rate of cell culture successfully are 551 cases (95.66%);chromosomal abnormalities in 90 cases (16.33%),with 63 cases often dyed anomaly of chromosome abnormality (70.00%);sex chromosome abnormality 25 cases(27.78%of chromosomal abnormality);triploid in 1 case;marker chromosomes in 1 case. Freak of chromosome abnormalities, the mainly types are cardiac malformation 31 cases (34.44%),skin edema 30 cases (33.33%),abnormal face and neck 21 cases (23.33%),abnormal brain structure 20 cases(22.22%),and the digestive system malformation 11 cases(12.22%). Conclusions:Congenital oaf has high incidence of chromosomal abnormalities. For ultrasound tips for congenital oaf , prenatal diagnosis ivtervention should be made to avoid the chromosome abnormalities in children with birth.%目的:通过对超声确诊为先天畸形儿的染色体核型进行分析,总结染色体异常与畸形部位和畸形数目的关系,为产前诊断提供依据。方法:2009年1月—2013年12月在广西壮族自治区妇幼保健院行羊水穿刺或脐带血穿刺,产前诊断指征为先天畸形儿的576例胎儿进行染色体核型分析,探讨先天畸形儿与染色体异常的关系及比例。结果:细胞培养成功551例(成功率95.66%)。染色体异常90例(16.33%),其中常染色体异常63例(占染色体异常的70.00%),性染色体异常25

  14. Spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    Energy Technology Data Exchange (ETDEWEB)

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

    1985-09-01

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

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

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2010-10-01

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

  16. 我国先天性畸形研究的文献计量学分析%Studies on congenital malformation in China:a bibliometrics analysis

    Institute of Scientific and Technical Information of China (English)

    高建梅; 张持晨; 段志光

    2015-01-01

    目的:分析国内先天性畸形领域研究的合作现状与演进过程,为相关机构及学者开展先天性畸形的研究提供决策依据。方法运用信息可视化工具CiteSpaceⅢ,对收集整理的3797篇期刊文献进行数据挖掘,从先天性畸形研究领域的高产作者、高产机构及合作关系、研究热点与前沿等角度展开现状分析。结果国内先天性畸形领域相关文献量自1978年有一个急速上升,从1981—1993年基本处于平稳状态,近20年文献量起伏比较大,年均133.2篇。出现频次≥5的作者共有14位。学者朱清於、金崇厚的发文量居于前列。出现频率≥15的机构有29个,其中上海交通大学医学院、浙江大学医学院、复旦大学等机构居于前列。出现频率≥50的关键词共有24个,对于先天性畸形的治疗主要采取的是“手术治疗”,研究对象为“新生儿”和“婴儿”,而“超声诊断”与“先天性心脏病”则为今后研究关注的重点所在。结论作为先天性畸形研究领域的领军人物,应该发挥其带头作用,加强科研合作,开展协同研治。对于研究的热点问题应该引起足够的重视,争取早查早治。%Objective To investigate the cooperation and development of studies on congenital malformation in China, so as to provide evidence and decision-making for related institutions and investigators in conducting new stud-ies in this field. Methods A total of 3 797 journal articles were collected for data dredging (DG) by using CiteSpaceⅢ, an information visualization tool. The current situation of congenital malformation studies in China was analyzed in the perspectives of high-yield authors, high-yield institutions, cooperative relations, hot topics and frontier of research. Results The amount of relevant literature in the field of congenital malformation in China showed a sharp rise after 1978, remained stable between 1981 and 1993, and

  17. Timing and Outcome of Renal Replacement Therapy in Patients with Congenital Malformations of the Kidney and Urinary Tract

    NARCIS (Netherlands)

    Wuhl, E.; Stralen, K.J. van; Verrina, E.; Bjerre, A.; Wanner, C.; Heaf, J.G.; Zurriaga, O.; Hoitsma, A.J.; Niaudet, P.; Palsson, R.; Ravani, P.; Jager, K.J.; Schaefer, F.

    2013-01-01

    BACKGROUND AND OBJECTIVES: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of ESRD in children, but the proportion of patients with individual CAKUT entities progressing to ESRD during adulthood and their long-term clinical outcomes are unknown. This study assessed

  18. Posterior Double Vertebral Column Resections Combined with Satellite Rod Technique to Correct Severe Congenital Angular Kyphosis.

    Science.gov (United States)

    Sun, Xu; Zhu, Ze-Zhang; Chen, Xi; Liu, Zhen; Wang, Bin; Qiu, Yong

    2016-08-01

    This paper presents a highly challenging technique involving posterior double vertebral column resections (VCRs) and satellite rods placement. This was a young adult case with severe angular thoracolumbar kyphosis of 101 degrees, secondary to anterior segmentation failure from T11 to L1 . There were hemivertebrae at T11 and T12 , and a wedged vertebra at L1 . He received double VCRs at T12 and T11 and instrumented fusion from T6 to L4 via a posterior only approach. Autologous grafts and a cage were placed between the bony surfaces of the osteotomy gap. Once closure of osteotomy was achieved, bilateral permanent CoCr rods were placed with addition of satellite rods. Postoperative X-ray demonstrated marked correction of kyphosis. On the 10(th) days after surgery, the patient was able to walk without assistance. In conclusion, double VCRs are effective to correct severe angular kyphosis, and addition of satellite rods may be imperative to enhance instrumentation strength and thus prevent correction loss. PMID:27627727

  19. Congenital Anomalies in Infant with Congenital Hypothyroidism

    OpenAIRE

    Zahra Razavi; Alireza Yavarikia; Saadat Torabian

    2012-01-01

    bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study wa...

  20. 辅助生殖技术治疗子宫畸形合并不孕%Assisted Reproduction Techniques Outcome for Congenital Uterine Malformation

    Institute of Scientific and Technical Information of China (English)

    高军; 徐艳文; 王琼; 苗本郁; 李洁; 邓明芬; 王子莲; 周灿权

    2011-01-01

    [Objective] A retrospective analysis was performed to evaluate the reproductive outcome of 64 women with uterine malformation who underwent in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) and embryo transfer (ET). [ Methods ] Database of First Affiliated Hospital of Sun Ye-sen University were indexed to seek patients who with uterine malformation undergo ART from 1 January 2002 to 31 December 2009. Patients were grouped according to the type of uterine malformation and their clinical and laboratory data were be compared. Once the patient was pregnant we followed up until delivery. The miscarriage rate, preterm delivery rate, term delivery rate, weight of newborn, gestation weeks and congenital malformation rate were compared. [ Results ] We conducted a retrospective analysis of data from 64 patients with the following types of congenital uterine malformation: 13 arcuate, 19 unicomate, 18 didelphys, 14 subseptate. There were no significant differences in the age, duration of infertility, bFSH, the number of oocytes retrived, fertility rate, cleavage rate, good quality embryo rate when the various types of uterine malformation were compared. Patients with subseptate uterus had significantly higher accumulation pregnant rate compared with patients with arcuate uterus and didelphys uterus(P < 0.05). There was no difference in miscarriage rate, preterm delivery rate, take baby home rate, multiple pregnancy rate, weight of newborn, gestation weeks between four groups. There was no ectopic pregnancy and fetal anomaly in each group. [Conclusion] Clinical pregnancy rate and implantation rate are worse in patients with uterine malformation compare with patients without uterine malformation. Patients with subseptate uterus underwent metroplasty before assisted reproduction had better clinical pregnancy rate compare with patients with arcuate uterus and didelphys uterus.%[目的]分析64名子宫畸形患者行体外受精/单精子卵泡浆注射(IVF

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

    Directory of Open Access Journals (Sweden)

    Lilia Maria de Azevedo Moreira

    2001-09-01

    Full Text Available Objetivo: verificar a associação entre o uso de abortivos durante o primeiro trimestre de gestação e a ocorrência de defeitos congênitos em recém-nascidos (RN. Métodos: estudo caso-controle com amostra de 800 nativivos, em maternidade pública de Salvador, Bahia, pelo período de um ano. Eram selecionados os seis primeiros nascimentos ocorridos em um só dia, sendo feitas consultas aos prontuários para verificação do registro de defeitos congênitos. Nos casos positivos eram observados os bebês afetados e realizada entrevista com as puérperas para o levantamento de antecedentes gestacionais e genéticos, utilizando questionário como instrumento de coleta de dados. Posteriormente os dados eram inseridos em programa de computador Epi-Info 5.0 para análise estatística. Resultados: as puérperas estudadas foram predominantemente de classe socioeconômica baixa (74,8%, sem escolaridade ou apenas 1º grau (61,1%. A taxa geral de defeitos congênitos foi de 4,7%. Entre as puérperas, 16% relataram a ingestão de substâncias abortivas no primeiro trimestre de gestação e 10,9% destas tiveram filhos com malformações. Nas crianças em que as mães não utilizaram abortivos essa incidência foi 3,6%. Os principais agentes usados como abortifacientes foram os chás medicinais e o misoprostol (Cytotec. O alumã (Vermonia baiensis Tol e o espinho cheiroso (Kanthoxilum shifolium Lam foram as plantas mais utilizadas inadequadamente, pois não apresentam propriedades abortivas, justificando assim a sua ineficácia. Conclusão: o presente estudo evidencia que tentativas de abortamento são práticas muito usuais em populações de baixa renda. Revela ainda que o uso de abortivos provoca um percentual significativo de malformações congênitas em bebês nativivos.Purpose: to verify the association of the use of abortifacient drugs during the first 3 months of gestation with the occurrence of congenital malformations in live births. Patients

  2. 22例子宫畸形HSG和MRI对照分析%Contrastive Analysis of Hysterosalpingography and MRI in 22 Congenital Uterine Malformation Cases

    Institute of Scientific and Technical Information of China (English)

    林宜圣; 王芳军; 鲁琳; 温凤媚; 吕江

    2011-01-01

    目的 评价子宫输卵管造影和磁共振成像在子宫畸形分型诊断中的价值.方法 回顾性对照分析有完整HSG和MRI检查资料的22例子宫畸形患者的影像表现.结果 22例子宫畸形病例,其中HSG和MRI检查诊断一致者18例,诊断符合率为81.8%.4例HSG误诊的病例中,有1例HSG诊断为单角子宫,MRI 检查发现有与宫腔不连通的子宫残角存在.有1例HSG诊断为双子宫,MRI检查可见双侧宫腔位于完整的宫体肌层结构内,即完全纵隔子宫.有2例HSG 诊断为双角子宫,但MRI示宫底无明显的凹陷,双侧宫腔间隔无肌层信号,符合不完全纵隔子宫诊断.结论 HSG具有直观、诊断准确率较高且可同时查看输卵管形态等优势,可作为子宫畸形首选的检查方法.MRI组织分辨率高,可多参数、多切面成像,对子宫畸形的诊断特异性高,可作为HSG难以诊断的子宫畸形的进一步检查方法.%Objective To evaluate the diagnositic value of hysterosalping-ography(HSG) and magnetic resonance imaging(MRI) in congenital uterine malformation.Methods Retrospective analysis the diagnosis efficacy of HSG and MRI in 22 congenital uterine malformation cases.Results 18 cases of the 22 patients have the same diagnosis by HSG and MRI.The diagnose accordance rate is 81.8%.MRI demonstrated 1 rudimentary horn of uterus which was misdiagnosed as unicornuate uterus by HSG.1 complete uterus septus was misdiagnosed as uterus didelphys by HSG.Uterine Septum and serosal surface dents of the fundus uteri was detected by MRI in 2 paitients with subseptate uterus.But they were misdiagnosed as bicornuate uterus by HSG.Conclusion HSG is a valuable method on diagnosing congenital uterine malformation.But for those complicated cases, MRI is a more effective diagnostic method.

  3. Cerebellar Malformations and Cognitive Disdorders

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-10-01

    Full Text Available The behavioral developmental profile of 27 children and adults (17 males and 10 females with congenital cerebellar malformations was determined in a clinical, neuroradiological and neuropsychological study at the Scientific Institute 'E Medea', University of Milano, Italy.

  4. 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

    Institute of Scientific and Technical Information of China (English)

    廖书娟; 罗碧如

    2012-01-01

    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.

  5. DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations

    OpenAIRE

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

    2014-01-01

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

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

    Science.gov (United States)

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

    2016-08-01

    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. PMID:26967991

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

    Science.gov (United States)

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

    2015-10-01

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

  8. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-06-15

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

  9. 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

    Institute of Scientific and Technical Information of China (English)

    贾书花; 王炯; 王改琴; 张旭东; 牛香兰; 田云; 霍小蕾

    2015-01-01

    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

  10. 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

    Institute of Scientific and Technical Information of China (English)

    张璘; 任梅宏; 张晓红; 宋桂宁; 王建六

    2013-01-01

    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

  11. Rectal atresia and anal stenosis: the difference in the operative technique for these two distinct congenital anorectal malformations.

    Science.gov (United States)

    Lane, V A; Wood, R J; Reck, C; Skerritt, C; Levitt, M A

    2016-04-01

    Rectal atresia and anal stenosis are rare forms of anorectal malformations. The aim of the definitive surgical repair in such cases is to preserve the anal canal, the dentate line, and the sphincter complex. We present a case of rectal atresia and anal stenosis to demonstrate the differences in the operative repair. The techniques described leave the anterior wall of the very distal anal canal untouched in both rectal stenosis and anal atresia; however, the dissection of the rectum differs. The atretic rectum in rectal atresia is mobilized and sutured to the anal canal circumferentially. In anal stenosis, the posterior rectum is mobilized in the form of rectal advancement, and the posterior 180° is anastomosed directly to the skin (as in a standard PSARP) with preservation of the anal canal as the anterior 180° of the final anoplasty. These patients have an excellent prognosis for bowel control and fecal continence, and therefore, complete mobilization and resection of the anal canal must be avoided. PMID:26902368

  12. 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

    Institute of Scientific and Technical Information of China (English)

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

    2009-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    Silvia Cristina Martínez Rueda, MD*

    2011-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Melania Maria Ramos de Amorim

    2006-05-01

    Full Text Available OBJETIVOS: determinar a incidência de malformações congênitas em recém-nascidos assistidos em uma maternidade-escola de Recife e avaliar o impacto destas malformações na mortalidade perinatal e neonatal. MÉTODOS: realizou-se um estudo longitudinal durante os meses de setembro de 2004 a maio de 2005, analisando-se todos os partos assistidos no Instituto Materno Infantil Prof. Fernando Figueira, IMIP. Determinou-se a freqüência e o tipo de malformações congênitas e foram calculados os coeficientes de mortalidade fetal, mortalidade perinatal, mortalidade neonatal precoce e tardia. RESULTADOS: a freqüência de malformações foi de 2,8% (em 4043 nascimentos. O percentual de malformações entre os nativivos foi de 2,7%, e entre os natimortos foi de 6,7%. Dentre as malformações, as mais freqüentes foram as do sistema nervoso central (principalmente hidrocefalia e meningomielocele, as do sistema osteomuscular e as cardiopatias. Não houve associação entre malformações e sexo, porém a freqüência de prematuridade e baixo peso foi maior entre os casos de malformações. Constatou-se, entre os malformados, mortalidade neonatal precoce de 32,7% e tardia de 10,6%. Os casos de malformações representaram 6,7% dos natimortos, 24,2% das mortes neonatais precoces e 25,8% do total de mortes neonatais. CONCLUSÕES: a freqüência de malformações correspondeu a 2,8% dos nascimentos. As malformações representaram a segunda causa mais freqüente de mortes neonatais, depois da prematuridade.OBJECTIVES: to determine the incidence of congenital malformations in newborns in a university maternity hospital in Recife and assess the impact of malformation in perinatal and neonatal mortality. METHODS: a longitudinal study was performed from September 2004 to May 2005 with all deliveries at the Instituto Materno Infantil Prof. Fernando Figueira, IMIP analyzed. The type and incidence of congenital malformations were determined, and fetal mortality

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

    Institute of Scientific and Technical Information of China (English)

    吴迪; 路来金; 宣昭鹏; 崔建礼; 孙希光; 贾晓燕

    2013-01-01

    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

  16. 2001-2010年北京市5岁以下儿童先天异常死亡状况分析%Mortality from congenital malformation in children under 5 years old in Beijing, 2001 - 2010

    Institute of Scientific and Technical Information of China (English)

    朱雪娜; 闫淑娟; 李东阳

    2011-01-01

    [目的]了解2001-2010年北京市5岁以下儿童先天异常死亡的变化趋势.[方法]采用北京市儿童生命监测网收集的数据,计算出5岁以下儿童先天异常死亡专率、构成比和年龄分布情况.[结果]1)北京市5岁以下儿童先天异常死亡专率由2001年的227.1/105下降至2010年的97.1/106;2)北京市城市先天心脏病、神经管畸形、先天愚型均显著下降;农村神经管畸形、先天愚型下降不显著;3)先天异常死亡占5岁以下儿童死亡的比例由2001年的29.2%下降至20lO年的23.1%;4)5岁以下儿童先天异常死亡主要发生在婴儿期,尤其是新生儿期.[结论] 北京市先天发育异常儿童死亡已经成为5岁以下儿童主要死因,需进一步加强农村地区相关疾病的预防水平.%[Objective] To identify the trend of mortality from congenital malformation in children under 5 years oldin Beijing from 2001 to 2010. [Methods] Data were obtained from the Beijing children mortality surveillance network. A descriptive analysis was performed on birth defect-specific mortality in children under 5 years old(U5MR). [Results] 1)The birth defect-specific U5MR decrease from 227.1 /105 live births in 2001 to 97.1/105 live births in 2010; 2)Congenital heart disease, neural tube defects, Dowr's syndrome were significantly decreased in urban and neural tube defects, Down,s syndrome was not significant decrease in rural; 3)The Proportion of mortality due to major congenital malformation decrease from 29.2% in 2001 to 23.1% in 2010; 4)Mortality from congenital malformation in children under 5 years old mainly in infant, especially in neonate. [Conclusions] Congenital malformation has been the leading causes of death in children under 5 years old. Strengthen prevention and reduce congenital malformation of death in rural have been the important work for us.

  17. 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

    Energy Technology Data Exchange (ETDEWEB)

    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)

    2003-11-01

    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

  18. Congenital Anomalies in Infant with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2012-09-01

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

  19. The Study of Prenatal Ultrasound for Single Umbilical Artery Merge the Diagnosis of Fetal Congenital Malformations%产前超声对单脐动脉合并胎儿先天畸形的诊断研究

    Institute of Scientific and Technical Information of China (English)

    刘晓辉

    2015-01-01

    Objective To study on single umbilical artery combined children with congenital malformation fetus, analysis the clinical value of prenatal ultrasound examination.Methods Selected 34 cases of children with congenital deformity single umbilical artery merge from February 2010 to February 2015 in our hospital. According to ultrasonic characteristics of children with all the implementation of were clinical analyzed. After the amniotic lfuid chromosome examination results.Results 92 cases of children with single umbilical artery, merger appears included 34 cases of children congenital deformity, disease incidence rate was 36.96%, Clinical manifestations of the cardiovascular system malformation, main urinary tract malformation and central nervous system abnormalities. For such patients, the probability of abnormal chromosome was positively associated with diseases performance.ConclusionAccording to the implementation of prenatal ultrasound, pregnant women can effectively clear whether to show the situation of single umbilical artery combined congenital deformity, effectively ensure the maternal and child health.%目的:针对单脐动脉合并胎儿先天畸形患儿,分析产前超声检查的临床应用价值。方法选择我院2010年2月~2015年2月单脐动脉合并先天性结构畸形患儿34例,分析患儿的超声特点,对羊水染色体检查结果进行观察。结果在92例单脐动脉患儿中,合并出现先天性结构畸形的患儿包括34例,疾病发生率为36.96%;临床主要表现为心血管系统、泌尿系统以及中枢神经系统畸形。针对此类患者,其出现染色体异常的概率同疾病种类表现为正相关。结论针对孕妇实施产前超声检查,能够有效明确是否表现出单脐动脉合并先天性结构畸形的情况,有效确保母婴健康。

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

    Directory of Open Access Journals (Sweden)

    Priscila Krauss Pereira

    2011-12-01

    Full Text Available O risco de ter malformações parece ser maior em bebês de mães com transtornos mentais em comparação com bebês de mães sem histórico de transtornos psiquiátricos. O objetivo deste artigo foi realizar uma metanálise dos estudos sobre a associação entre transtornos mentais maternos e malformações congênitas. A revisão consistiu na busca de artigos nas bases MEDLINE, ISIWEB, Scopus, LILACS e SciELO, utilizando-se os descritores: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". Foram localizados 108 estudos, sendo selecionados cinco artigos de acordo com os critérios estabelecidos. Estes artigos foram incluídos na metanálise, envolvendo um total de 4.194 crianças de mães com transtornos mentais e 249.548 crianças de mães sem tais transtornos. A medida combinada revelou associação significativa entre exposição a transtornos mentais maternos e risco de malformações (RR = 2,06, IC95%: 1,46-2,67. O presente estudo evidencia a relação entre saúde mental materna durante a gravidez e suas repercussões na saúde do bebê.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

  1. Renal tract malformations: perspectives for nephrologists.

    NARCIS (Netherlands)

    Kerecuk, L.; Schreuder, M.F.; Woolf, A.S.

    2008-01-01

    Renal tract malformations are congenital anomalies of the kidneys and/or lower urinary tract. One challenging feature of these conditions is that they can present not only prenatally but also in childhood or adulthood. The most severe types of malformations, such as bilateral renal agenesis or dyspl

  2. 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

    Institute of Scientific and Technical Information of China (English)

    姜雪锦; 许光; 申丽君; 吴静; 陈辉; 王友洁

    2014-01-01

    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

  3. 磁共振与三维超声在胎儿先天性畸形诊断中的应用%Application of MRI and Three-dimensional Ultrasound Diagnosis of Congenital Malformations in the Fetus

    Institute of Scientific and Technical Information of China (English)

    刁强; 郑玲; 李林

    2009-01-01

    目的:探讨磁共振与超声在胎儿先天畸形诊断中的优势与局限性以及相互的补充作用.方法:对行超声检查中怀疑畸形的24例孕妇进一步行三雏超声和磁共振检查,将两者检查结果加以比较并与临床结果进行对照.结果:24例孕妇共检出9例先天性畸形,磁共振证实诊断的9例,完善诊断的3例,排除超声疑似畸形的1例.结论:磁共振对胎儿神经系统解剖的诊断明显优于超声;而超声,尤其是三维超声时于胎儿表面成像优于磁共振.所以在诊断胎儿先天性畸形上,磁共振和超声的相互结合有利于相互弥补各自的局限性,达到明确诊断的目的.%Obiective To discuss the diagnosis value, limitations and mutual complement of MRI and TDUI in the fetus. Methods, TDUI and MRI was performed in 24 cases pregnant women that suspected fetus congenital malformation by Ultrasound examination, the examination results were compared by MR1 and TDUI with the clinical results.Results The 9 cases congenital malformation of 24 cases pregnant women were found by MRI. The 9 cases were confirmed and 3 cases were more sufficient by MRI. The one case examined by MRI was normal other than Ultrasound examination. Conclusion MRI is superior to Ultrasound in diagnosing malformation of nervous system. The Ultrasound and the TDUI in particular is better in finding the surface malformation than MRI. In clinical application, MRI and Ultrasound must be connected to make up the limitation and have a definite diagnosis.

  4. 先天性消化道畸形住院患儿的特点和预后影响因素的研究%Characteristics and prognostic influential factors of hospitalized infants with congenital digestive tract malformation

    Institute of Scientific and Technical Information of China (English)

    许光; 李碧香; 周崇高; 王海阳; 刘筱娴

    2011-01-01

    目的 探讨0~3月先天性消化道畸形住院患儿的临床特征和预后影响因素,为制定其有效救治体系提供科学依据 方法 选取湖南省儿童医院新生儿外科1年内收治的466例先天性消化道畸形患儿 采用单因素Logistic回归和多因素Logistic回归统计分析其基本特征和预后影响因素 结果 466例患儿中,男332例,占71 24%;女134例,占28 76% 农村367例,占78 76%;城市99例,占21 24% 农村较城市易发生水电解质紊乱、肺炎、腹膜炎、消化道穿孔和营养不良等并发症 治愈385例,占82 62%;好转13例,占2 79%;放弃32例,占6 87%;死亡36例,占7 73% 其中农村死亡32例,城市死亡4例,农村患儿的病死率高于城市 通过单因素Logistic回归分析,影响患儿住院转归的因素主要是:感染性休克、呼吸衰竭、败血症、DIC和硬肿症等 经多因LIogistic回归分析,影响患儿住院转归的因素主要是:呼吸衰竭、消化道穿孔、败血症和发病日龄 结论 先天性消化道畸形的预后与感染性休克、呼吸衰竭、消化道穿孔、败血症、D1C和硬肿症等密切相关 先天性消化道畸形防治工作的重点在农村 开展产前诊断,早期诊断,普及相关知识,早期手术治疗和提高医院的救治水平可提高该病的治愈率.%[Objective] Through researching the characteristics and prognostic influential factors of the hospitalized infants with congenital digestive tract malformation aged 0 ~ 3 months, the present study aims at providing a scientific guideline for the establishment of an effective emergency rescue system for it. [Methods! Subjects were 466 hospitalized infants with congenital digestive tract malformation in the Neonatal Surgery Department of Hunan Children's Hospital within one year. Their basic features and influential factors on the outcome of these infants were analyzed by the approaches of single factor logistic regression analysis and

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2006-06-15

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

  6. Endoluminal ultrasound and segmental analysis in diagnosis of congenital malformation of the uterus and vagina%腔内超声节段分析法诊断先天性子宫及阴道畸形

    Institute of Scientific and Technical Information of China (English)

    杨雪冰; 王慧芳; 刘云平; 陈秋香; 郭娟; 王诗雅

    2013-01-01

    Objective To investigate the diagnostic value of endoluminal ultrasound (transvaginal and transrectal ultrasound) and segmental analysis with three-dimensional ultrasonography for congenital malformation of the uterus and vagina. Methods A total of 226 patients with clinically confirmed congenital malformations of the uterus and vagina were enrolled and divided into two groups. Group A included 154 cases, the findings of transabdominal or endoluminal two dimensional ultrasonography were retrospectively compared with clinical diagnosis. Group B included 72 cases, the results of segmental analysis by endoluminal three-dimensional ultrasonography were perspective studied and then compared with clinical diagnosis. Results In group A, 99 of 154 cases with congenital malformations of the uterus and vagina were diagnosed by two dimensional ultrasound, while 55 cases were missed or misdiagnosed. The coincidence rate was 64. 29% (99/154). In group B, since the introduction of three dimensional ultrasonography and segmental analysis, 69 of 72 cases were defined, with the coincidence rate of 95. 83% (69/72), while 3 cases were missed diagnosed or misdiagnosed. Conclusion Translu-minal three-dimensional ultrasonography and segmental analysis have essential diagnostic value, which can improve the accuracy of diagnosis and classification of congenital malformation of the uterus and vagina.%目的 探讨应用腔内(经阴道或经直肠)三维超声节段分析法诊断先天性子宫及阴道畸形的价值.方法 将226例先天性子宫及阴道畸形患者分为A、B两组.A组154例,采用回顾性分析,对比分析其经腹或腔内二维超声检查的结果及临床结局;B组72例,采用前瞻性研究,对比分析应用节段分析法经腔内三维超声检查的结果及临床结局.结果 A组154例中,二维超声检查诊断符合率为64.29%(99/154),漏、误诊55例,未进行详细分类;B组72例中,腔内三维超声节段

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

    Directory of Open Access Journals (Sweden)

    Cleopatra Cabrera Cuellar

    2006-04-01

    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.

  8. [Lymphatic malformations in the head and neck area].

    Science.gov (United States)

    Wiegand, S; Werner, J A

    2016-02-01

    Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies. PMID:26820157

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-11-01

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

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

    Directory of Open Access Journals (Sweden)

    CARLOS ÁLVAREZ Z

    2009-01-01

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

  11. Brain Malformations

    Science.gov (United States)

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

  12. Anorectal malformations in children

    Directory of Open Access Journals (Sweden)

    Bhargava Pranshu

    2006-01-01

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

  13. Anorectal malformations in neonates

    Directory of Open Access Journals (Sweden)

    Bilal Mirza

    2011-01-01

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

  14. Arteriovenous Malformation of the Pancreas

    Directory of Open Access Journals (Sweden)

    Alexandros Charalabopoulos

    2011-01-01

    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.

  15. Application of MRU in Diagnosis of Difficult Pediatric Cases with Urinary Tract Congenital Malformation%MRU在小儿泌尿道畸形疑难病例诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    潘恩源; 陈丽英; 叶滨滨; 孙宝海; 魏红; 王常林; 赵国贵; 朱贝贝; 侯英

    2000-01-01

    Purpose: To evaluate the role of MR urography (MRU) in the diagnosis of difficult cases with congenital malformation of urinary tract in children. Materials and Methods: MRU was performed in 17 pediatric cases (4 days to 14 years old) with congenital malformation of the urinary tract from August 1997 to Jane 1999, in which diagnosis cannot be made by either intravenous urography (IVU) or utrasonography (including none visible urinary tract in IVU) . Heavy T2 weighed FSE sequence with fat saturation was used. Results: (1) Definitive diagnosis with characteristic findings had been made in 9cases (53%) including multicystic dyplastic kidney (2 cases), rare type ectopic ureterocele (2 cases), severe megaureter (2 cases), horse shoe kidney complicated with hydronephrosis due to left ureteric calculus (1 cases), huge urinary bladder diverticulum (1 case),and urachal cyst (1 case). (2)The diagnosis of 5 cases (29%) with pyeloureteric junction stenosis all met the surgical requirements - localization of the urinary tract obstruction and exclusion of the renal multicystic diseases. (3) Three cases (18%) of bilateral severe bydronephrosis, including posterior urethral valve (2 cases) and neurogenic bladder (1 case), only had a suggestive diagnosis, and further clarification with other modality was in need. Conclusion: MRU is an ideal modality for the diagnosis of difficult pediatric cases with congenital malformation of the urinary tract. The value of source images is emphasized, which should be used in combination with MIP images.%目的:探讨MRU在小儿泌尿道畸形疑难病例诊断中的应用。材料和方法:用重T2加权FSE序列,脂肪抑制技术对17例4天~14岁、IVU未显影或(和)IVU,US诊断不明的病例作MRU检查。结果:(1)能作定性诊断的疑难病例9例,包括:多囊性发育不良肾、少见类型的异位输尿管囊肿以及重度积水的巨输尿管各2例;马蹄肾并发输尿管结石与积水、特大型先天

  16. DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations.

    Science.gov (United States)

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

    2014-07-15

    Ectrodactyly, or Split-Hand/Foot Malformation (SHFM), is a congenital condition characterized by the loss of central rays of hands and feet. The p63 and the DLX5;DLX6 transcription factors, expressed in the embryonic limb buds and ectoderm, are disease genes for these conditions. Mutations of p63 also cause the ectodermal dysplasia-ectrodactyly-cleft lip/palate (EEC) syndrome, comprising SHFM. Ectrodactyly is linked to defects of the apical ectodermal ridge (AER) of the developing limb buds. FGF8 is the key signaling molecule in this process, able to direct proximo-distal growth and patterning of the skeletal primordial of the limbs. In the limb buds of both p63 and Dlx5;Dlx6 murine models of SHFM, the AER is poorly stratified and FGF8 expression is severely reduced. We show here that the FGF8 locus is a downstream target of DLX5 and that FGF8 counteracts Pin1-ΔNp63α interaction. In vivo, lack of Pin1 leads to accumulation of the p63 protein in the embryonic limbs and ectoderm. We show also that ΔNp63α protein stability is negatively regulated by the interaction with the prolyl-isomerase Pin1, via proteasome-mediated degradation; p63 mutant proteins associated with SHFM or EEC syndromes are resistant to Pin1 action. Thus, DLX5, p63, Pin1 and FGF8 participate to the same time- and location-restricted regulatory loop essential for AER stratification, hence for normal patterning and skeletal morphogenesis of the limb buds. These results shed new light on the molecular mechanisms at the basis of the SHFM and EEC limb malformations. PMID:24569166

  17. Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.

    Science.gov (United States)

    Aughton, D J; Sloan, C T; Milad, M P; Huang, T E; Michael, C; Harper, C

    1990-01-01

    Nasopharyngeal teratomas are rare and are infrequently associated with extra-oral malformations. The case of a premature female infant with multiple congenital anomalies, including nasopharyngeal teratoma, Dandy-Walker malformation, diaphragmatic hernia, and congenital heart defect, is presented. This constellation of malformations does not appear to have been reported previously. Images PMID:2074566

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-11-15

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

  19. 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

    Institute of Scientific and Technical Information of China (English)

    王世军; Mandakini Oli; 蒋励; 王建六; 魏丽惠

    2008-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    Amauri Batista da Silva

    1972-03-01

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

  1. Congenital Cystic Lung Diseases

    Directory of Open Access Journals (Sweden)

    Aditi Jain

    2013-01-01

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

  2. Congenital cystic disorders of lung masquerading as complicated pneumonia and pneumothorax: A case series

    OpenAIRE

    Nandi, Madhumita; Mondal, Rakesh

    2013-01-01

    Abstract. Congenital cystic adenomatoid malformation and congenital lobar emphysema are rare embryonic congenital disorders of lung. We report seven such cases of congenital cystic pulmonary disorders out of which, four cases were of congenital cystic adenomatoid malformation and three cases of congenital lobar emphysema. All cases presented with recurrent or persistent pulmonary infection and pneumothorax. These cases had been masquerading as pneumonia and/ or its complication and were treat...

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

    Science.gov (United States)

    Barrero Candau, R; Garrido Morales, M

    2007-04-01

    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.

  4. VASCULAR MALFORMATION OF CHEEK: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Faiz

    2015-02-01

    Full Text Available Vascular lesions are among the most common congenital and neonatal abnormalities. Most of the congenital vascular malformations are often misdiagnosed and left untreated. These lesions are the result of an embryonic abnormality of the vascular system. This is a case report of 13 year male patient who came with a chief complaint of swelling on the right side of face since birth. It was diagnosed as vascular malformations of buccal mucosa of right side. It is emphasized that the management of these cases requ ires a multidisciplinary approach. Laser therapy, embolization followed by surgical excision is the favourable treatment modalities.

  5. Isolated congenital tracheal stenosis in a preterm newborn.

    Science.gov (United States)

    Krause, Ulrich; Rödel, Ralph M W; Paul, Thomas

    2011-09-01

    Severe tracheal stenosis, resulting in functional atresia of the trachea is a rare congenital malformation with an estimated occurrence of two in 100,000 newborns. If no esophagotracheal fistula is present to allow for spontaneous breathing, this condition is usually fatal. We report on a male infant born at 32 weeks of gestation. The patient presented with respiratory distress immediately after delivery due to severe congenital tracheal stenosis resulting in functional atresia of the trachea. Endotracheal intubation failed and even emergency tracheotomy did not allow ventilation of the patient lungs. The patient finally succumbed to prolonged hypoxia due to functional tracheal atresia. The etiology of tracheal atresia and tracheal stenosis is still unclear, but both conditions are frequently combined with other anomalies of the VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal/radial anomalies and limb defects) and TACRD (tracheal agenesis, cardiac, renal and duodenal malformations) association. Conclusion Successful treatment of severe congenital tracheal stenosis and tracheal atresia depends on either prenatal diagnosis or recognition of this condition immediately after birth to perform tracheotomy without delay. Nevertheless, despite any efforts, the therapeutical results of severe tracheal stenosis and tracheal atresia are still unsatisfactory. PMID:21590265

  6. Obstetric outcomes in women with mullerian duct malformations

    Directory of Open Access Journals (Sweden)

    Padmasri Ramalingappa

    2014-02-01

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

  7. Advanced Imaging of Chiari 1 Malformations.

    Science.gov (United States)

    Fakhri, Akbar; Shah, Manish N; Goyal, Manu S

    2015-10-01

    Type I Chiari malformations are congenital deformities involving cerebellar tonsillar herniation downward through the foramen magnum. Structurally, greater than 5 mm of tonsillar descent in adults and more than 6 mm in children is consistent with type I Chiari malformations. However, the radiographic severity of the tonsillar descent does not always correlate well with the clinical symptomatology. Advanced imaging can help clinically correlate imaging to symptoms. Specifically, cerebrospinal fluid (CSF) flow abnormalities are seen in patients with type I Chiari malformation. Advanced MRI involving cardiac-gated and phase-contrast MRI affords a view of such CSF flow abnormalities. PMID:26408061

  8. Obstetric outcomes in women with mullerian duct malformations

    OpenAIRE

    Padmasri Ramalingappa; Urvashi Bhatara; Jayashree Seeri; Priyadarshini Bolarigowda

    2014-01-01

    Background: Congenital uterine anomalies are associated with the highest incidence of reproductive failure and obstetric complications. This study aims to summarize the clinical characteristics and prenatal outcome of pregnancy in women with congenital uterine malformations. Methods: This retrospective study evaluates the obstetric outcome of 24 in patients with uterine malformations with pregnancy in Sapthagiri Hospital from August 2010 to August 2013. A total of 60 randomly selected preg...

  9. NPHP4 variants are associated with pleiotropic heart malformations

    NARCIS (Netherlands)

    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)

    2012-01-01

    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

  10. NPHP4 variants are associated with pleiotropic heart malformations.

    NARCIS (Netherlands)

    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.

    2012-01-01

    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

  11. Aneurysmal Malformation of Galen Vein: A Case Report

    OpenAIRE

    A. Alizadeh; Sh. Yousefzadeh

    2008-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    王俊; 施诚仁; 余世耀; 吴燕; 徐长辉

    2003-01-01

    @@ 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.

  13. Diagnosis of fetal congenital cystic adenomatoid malformation of the lung by MRI%胎儿先天性肺囊腺瘤样畸形的MRI诊断与鉴别诊断

    Institute of Scientific and Technical Information of China (English)

    董素贞; 朱铭; 钟玉敏; 张弘; 潘慧红

    2011-01-01

    目的:探讨MRI在胎儿先天性肺囊腺瘤样畸形(CCAM)诊断与鉴别诊断中的应用价值.方法:36例孕妇,年龄21~38岁,平均29岁;孕龄20~31周,平均24周.产前常规行超声(US)检查后24~48h内行MR检查,采用二维快速平衡稳态采集 (2D-FIESTA) 序列、单次激发快速自旋回波(SSFSE)序列,行胎儿颅脑胸腹部常规及胸部重点冠状面、矢状面及横轴面扫描,将产前MRI、US表现与出生后增强CT或手术(33例胎儿)、引产后尸体解剖结果(3例胎儿)对照.结果:病变位于左侧15例,右侧21例.单个肺叶31例,单侧全肺5例.大囊型18例、微囊型18例.随访结果证实MRI误诊2例;产前US误诊6例、漏诊2例,不完全诊断1例.结论:MRI在胎儿CCAM诊断与鉴别诊断方面具有较高的应用价值,可诊断病变具体所在肺叶、病变类型、心脏移位及对侧肺受压程度预测胎儿预后.%Objective : To explore the diagnostic value of MRI in fetal lung congenital cystic adenomatoid malformation (CCAM). Methods:Thirty-six pregnant women,aged from 21 to 38 years (average 29 years) and with gestation from 20 to 31 weeks (average 24 weeks) were examined with a 1.5T MR unit within 24 to 48 hours after ultrasound studies. The imaging protocol included fast-imaging employing steady-state acquisition ( FIESTA) , single-shot fast spin echo ( SSFSE) sequences in the axial, frontal, and sagittal planes relative to the fetal brain, thorax, abdomen, especially thorax. Prenatal US and MR imaging findings were compared with postnatal diagnoses (33 fetuses) or autopsy (3 fetuses). Postnatal evaluation included computed tomography and surgery. Results : The lesions were in the left side in 15 cases and in the right in 21 cases. There were lesions in a single lobe in 31 cases,and in unilateral whole lung in 5 cases. There were large cystic lesions in 18 cases,and microcystic in other 18 cases. Follow-up examinations confirmed 2 cases of misdiagnosis by prenatal MRI, 6

  14. Clinical analysis of 35 congenital cystic adenomatoid malformation (CCAM) of the lung in fetal%胎儿先天性肺囊性腺瘤样畸形35例临床分析

    Institute of Scientific and Technical Information of China (English)

    张莺; 康媛; 李笑天

    2012-01-01

    Objective To investigate the clinical feature and prognosis of congenital cystic adenomatoid malformation ( CCAM) of the lung in fetal. Methods From February 2004 to July 2009,35 fetuses diagnosed with CCAM by prenatal-ly ultrasonic examinations in Obstetrics and Gynecology Hospital Affiliated to Fudan University were analyzed retrospectively. Ultrasound monitored the changes of the lesion size and the complications. Results The ultrasonic examination indicated that IS of 35 cases were classified as type I , 11 as type Ⅱ ,8 as type Ⅲ and 1 was type I combined with type Ⅲ. 14 cases were accompanied with mediastinal or heart shifting, 3 cases with polyhydramnios, 3 cases with the thickening of nuchal translucency, 1 case with hydrocephalus,2 cases with fetal growth retardation, 1 case with fetal hydrops and ascites, 1 case with polyhydramnios and digestive systerm malformation. 7 of 35 cases underwent amniocentesis and all of the chromosomal karyotype were normal. 8 cases could not be continued to follow up after the first ultrasonic examination. In the follow-up group, one fetus with hydrops and ascites died intrauterine at 29 weeks, 11 women terminated their pregnancies, 15 cases delievered. Of 15 infants, lesions of 6 cases disappeared at pregnancy, 4 cases disappeared postnatal-ly, lesions of 2 cases still existed, 3 cases were not followed up. 15 infants were healthy. Conclusion Fetal hydrops and ascites are the unfavourable factors for the CCAM prognosis. If fetuses are not complicated with hydrops, ascites and other malformations, the prognosis of CCAM is good, these women should be advised to continue their pregnancies.%目的 探讨胎儿先天性肺囊性腺瘤样畸形( CCAM)的临床特点和预后.方法 回顾性分析2004年2月至2009年7月在复旦大学附属妇产科医院经产前超声诊断为CCAM的35例胎儿的临床资料.超声监测CCAM病灶大小及并发症的变化.结果 超声检查提示:Ⅰ型15例,Ⅱ型11例,Ⅲ型8

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

    Science.gov (United States)

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

    2016-01-01

    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.

  16. 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

    Institute of Scientific and Technical Information of China (English)

    杨平; 陈晓云; 张明

    2015-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    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.

  18. 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

    Institute of Scientific and Technical Information of China (English)

    郑方芳; 刘晓红; 莫樱; 蒋小云; 宋洁; 周传新

    2016-01-01

    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。

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

    Directory of Open Access Journals (Sweden)

    Dinaldo de Lima Leite

    2010-03-01

    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.

  20. Diagnostic value of 3D-excretory contrast-enhanced MR urography combined with MR urography in congenital malformation of upper urinary tract%三维排泄性对比增强磁共振尿路造影联合MRU对上尿路先天异常的诊断价值研究

    Institute of Scientific and Technical Information of China (English)

    李颢; 莫茵; 罗钰辉; 何波; 刘孝东; 申吉泓

    2012-01-01

    目的:探讨三维排泄性对比增强磁共振尿路造影(3D-ceMRU)联合MRU在上尿路先天异常诊断中的价值.方法:对42例上尿路先天异常患者皆行MRU及3D-ceMRU扫描,与临床最终诊断对照后,评价3D-ceMRU联合MRU对上尿路先天异常的诊断价值,将3D-ceMRU及MRU对患侧上尿路的显影情况做对比分析.结果:3D-ceMRU联合MRU可清晰显示全部42例上尿路先天性异常,3D-ceMRU和MRU对42例上尿路先天异常患者的定性诊断率分别为90.5%、73.8%,定位诊断率分别为83.3%、64.3%.正常和轻度积水的上尿路3D-ceMRU图像质量优于MRU(P<0.01),而中-重度积水的上尿路MRU图像质量优于3D-ceMRU(P<0.01).结论:3D-ceMRU联合MRU对上尿路先天异常具有较高的定位、定性诊断准确性,是诊断上尿路先天异常的可靠方法.%Objective:To evaluate the clinical application value of 3D-excretory contrast-enhanced magnetic resonance urography(3D-ceMRU) combined with magnetic resonance urography(MRU) in diagnosing congenital malformation of upper urinary tract. Methods: Forty-two patients with congenital malformation of upper urinary tract were performed by MRU and 3D-ceMRU. 3D-ceMRU was performed by 3D SPGR, and 3D reconstruction from ' multiple images were acquired by maximum intensity projection algorithm. Contrast to the clinical final diagnosis, the accurate rate in diagnosis of congenital malformation of upper urinary tract by 3D-ceMRU combined with MRU was analyzed. Two readers independently scored each affected upper urinary tract for visualization degree which was compared between 3D-ceMRU and MRU. Results: The congenital malformation of upper urinary tract were definitely diagnosed with 3D-ceMRU combined with MRU in all 42 patients. The total correct rates of definitive diagnosis and locating diagnosis checked by 3D-ceMRU and MRU、were 90. 5% , 73. 8% and 83. 3% , 64. 3% respectively. The scores of 3D-ceMRU were higher than MRU in the nondilated

  1. Human malformations induced by environmental noxae

    International Nuclear Information System (INIS)

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

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

    Science.gov (United States)

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

    2013-09-01

    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.

  3. Dandy-Walker Malformation Presenting with Psychological Manifestations

    Science.gov (United States)

    Dahanayake, Dulangi Maneksha Amerasinghe

    2016-01-01

    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. PMID:27493822

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

    NARCIS (Netherlands)

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

    2011-01-01

    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

  5. Use of a Mismatch Amplification Mutation Assay PCR Method to Detect the Complex Vertebral Malformation in Some Chinese Holstein Sires%部分中国荷斯坦种公牛脊柱畸形综合征携带状况的检测和分析

    Institute of Scientific and Technical Information of China (English)

    王帅; 赵学明; 朱化彬; 杜卫华; 王栋; 郝海生; 王宗礼

    2011-01-01

    摘本研究旨在对部分中国荷斯坦种公牛脊柱畸形综合征(Complex vertebral malformation,CVM)致病基因的携带状况进行筛查.应用错配PCR突变分析技术(PCR mismatch amplification mutation assay,PCR-MAMA)建立了针对CVM致病基因的特异性检测方法.利用PCR-MAMA法检测了154头荷斯坦种公牛,发现了24头CVM阳性个体,阳性率为15.58%.结果显示,应对中国荷斯坦种公牛进行全面的针对CVM的检测.%This experiment was conducted to test some Chinese Holstein sires for complex vertebral malformation (CVM). In this study, a simple, rapid PCR mismatch amplification mutation assay (PCR- MAMA) was developed to detect the mutation allele. Out of 154 tested Holstein sires, 24 sires (15. 58%) were identified to be CVM carriers by PCR- MAMA. The results indicate that all the Chinese Holstein sires should be tested for CVM.

  6. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Alok Sachan

    2010-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Jazmín Arteaga-Vázquez

    2012-12-01

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

  8. MRI 在诊断胎儿肺囊腺瘤样畸形中的价值%Diagnostic value of MRI in the fetal congenital cystic adenomatoid malformation of the lung

    Institute of Scientific and Technical Information of China (English)

    许相丰; 于红; 王南飞; 刘海东

    2016-01-01

    目的:探讨 MRI 在诊断胎儿先天性肺囊腺瘤样畸形(CCAM)中的价值。方法采用 MR 快速成像序列对8例超声(US)提示患先天性 CCAM 胎儿进行胸部横断面、矢状面及冠状面扫描,将产前 MRI 表现与出生后手术(2例)、引产尸检(3例)和CT(3例)结果对照。结果 MRI 诊断胎儿先天性 CCAM 7例,肺段隔离症(BPS)1例,均符合手术、尸检和 CT 结果。7例先天性CCAM,病变位于左肺 2例,右肺5例,囊肿型 2例、肿块型5例;BPS 1例,位于左肺下叶。结论 MR 快速成像技术可以清晰显示胎儿先天性 CCAM 的位置、类型和范围,是产前胎儿 US 检查的重要补充。%Objective To explore the diagnostic value of MR fast imaging sequences in fetal lung congenital cystic adenomatoid malformation(CCAM).Methods 8 cases with suspected CCAM by US were examined with MRI fast sequences,including single shot turbo spin echo (SSTSE)and balanced fast field echo(B-FFE),and undergone axial,sagital and coronal scanning sections of fetal chests.MRI findings were compared with surgery(2 fetuses),autopsy (3 fetuses)and CT examination (3 fetuses).Results 7 fetuses with CCAM and 1 fetus with bronchopulmonary sequestration(BPS)diagnosed by MRI were confirmed by following surgery,autopsy and CT examination.Among the 7 CCAM cases,2 leisions were on the left side,while the other 5 lesions were on the right side.Fur-thermore,2 cases were cystic type and the rest 5 cases were mass type.The BPS was located in the lower left lung lobar.Conclusion MR fast imaging sequences in fetal can clearly demonstrate location,type and extent of CCAM and can provide important supplement information of the prenatal fetal ultrasound examination.

  9. Amphibian malformations and inbreeding

    OpenAIRE

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

    2008-01-01

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

  10. Differentiating between Traumatic Pathology and Congenital Variant: A Case Report of Butterfly Vertebra

    Science.gov (United States)

    Karargyris, Orestis; Morassi, Lampros-Guiseppe; Stathopoulos, Ioannis P.; Chatziioannou, Sofia N.; Pneumaticos, Spyros G.

    2015-01-01

    Butterfly vertebra is a rare congenital malformation of the spine, which is usually reported in the literature as an isolated finding. We describe a 40-year-old woman that presented to our emergency department with back pain and sciatica. Initial radiological evaluation revealed an incidental finding of a L4 butterfly vertebra in the anteroposterior and lateral view radiographs. The patient presented with no neurological deficit. This rare congenital anomaly is usually asymptomatic, and awareness of its non-traumatic nature is critical in order to establish a correct diagnosis. Further evaluation of the patient is necessary to exclude pathologic fracture, infection, or associated vertebral anomalies and syndromes, such as Alagille, Jarcho-Levin, Crouzon, and Pfeiffer syndromes. Furthermore, in the emergency setting, awareness of this entity is needed so that a correct diagnosis can be established. PMID:26330967

  11. Papilloedema due to Chiari I malformation.

    Science.gov (United States)

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

    2011-10-16

    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.

  12. 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

    Institute of Scientific and Technical Information of China (English)

    郭磊; 赵玉岩; 张世亮; 朱世博; 刘魁

    2008-01-01

    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

  13. Congenital malformations of the ureter: anatomical studies.

    Science.gov (United States)

    Dorko, František; Tokarčík, Ján; Výborná, Eva

    2016-06-01

    The ureter is a derivate of the Wolffian mesonephric duct and undergoes complex changes during development. The most common developmental anomaly is complete duplication of the ureter. Duplication of the ureter may be complete or incomplete. Incomplete duplication of ureter is well known as bifid ureter. Presence of various anomalies of the ureter is associated with increased risk of urinary tract infections and many other clinical complications. PMID:26286110

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

    Science.gov (United States)

    Schiess, Regula; Haeusler, Martin

    2013-03-01

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

  15. 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

    Institute of Scientific and Technical Information of China (English)

    夏曦; 周芬芳; 陈宏; 陈莉

    2014-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    A. Burgio

    2012-12-01

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

  17. Interventional treatment of pulmonary arteriovenous malformations

    DEFF Research Database (Denmark)

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high...... risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries...... the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT....

  18. CLINICAL STUDY OF ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Umesh

    2015-01-01

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

  19. Congenital tracheobronchial stenosis.

    Science.gov (United States)

    Hewitt, Richard J; Butler, Colin R; Maughan, Elizabeth F; Elliott, Martin J

    2016-06-01

    Congenital tracheobronchial stenosis is a rare disease characterized by complete tracheal rings that can affect variable lengths of the tracheobronchial tree. It causes high levels of morbidity and mortality both due to the stenosis itself and to the high incidence of other associated congenital malformations. Successful management of this complex condition requires a highly individualized approach delivered by an experienced multidisciplinary team, which is best delivered within centralized units with the necessary diverse expertise. In such settings, surgical correction by slide tracheoplasty has become increasingly successful over the past 2 decades such that long-term survival now exceeds 88%, with normalization of quality of life scores for patients with non-syndrome-associated congenital tracheal stenosis. Careful assessment and planning of treatment strategies is of paramount importance for both successful management and the provision of patients and carers with accurate and realistic treatment counseling. PMID:27301600

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

    Directory of Open Access Journals (Sweden)

    Maryam Nik Nejadi

    2008-01-01

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

  1. The Relationship between maternal infection with human parvovirus B19 and fetal death and congenital malformation%妊娠期妇女人细小病毒B19感染与死胎及胎儿畸形关系的研究

    Institute of Scientific and Technical Information of China (English)

    李冰琳; 王淑莉; 郭静; 屈新中

    2001-01-01

    目的 了解妊娠期妇女人细小病毒B19(human parvovirus B19,简称B19)感染与死胎及胎儿畸形的关系。方法 采用前瞻性的研究方法,应用聚合酶链反应(PCR)技术对335例孕妇血清进行B19 DNA检测,并随访其妊娠结局。结果 在335例孕妇中,血清B19 DNA阳性67例,B19 DNA阴性268例。其中在67例B19 DNA阳性者中,发生4例死胎和1例无脑儿,在268例B19 DNA阴性者中,无一例发生死胎和胎儿畸形,阳性与阴性者间比较,差异有显著性(P<0.05)。两者正常分娩的新生儿外观均无异常。结论 妊娠期妇女感染B19可导致死胎和胎儿畸形发生。%Objective To study the relationship between matanal infection with human parvovirus B19 and fetal death and congenital malformation. Methed B19-DNA was detected by Polymerase Chain Reaction (PCR) in blood samples from 335 pregnant women. The pregnant outcomes were followed. Results  In 335 pregnant women, 67 cases were B19-DNA positive and 268 cases were B19-DNA regative. There were four fetal deaths and one anencephalus in B19-DNA positive group. There was no fetal deaths or congenital malformation in B19-DNA negative group. The difference is significant (P<0.05). Conclusions  Maternal infection with human parvovirus B19 may contribute to fetal death and congenital malformation.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-06-15

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

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

    Directory of Open Access Journals (Sweden)

    Zenteno Marco

    2014-06-01

    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.

  4. Ethanol sclerotherapy of peripheral venous malformations

    International Nuclear Information System (INIS)

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

  5. Ethanol sclerotherapy of peripheral venous malformations

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-12-01

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

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

    NARCIS (Netherlands)

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

    2015-01-01

    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

  7. Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study.

    NARCIS (Netherlands)

    Rooij, I.A.L.M. van; Wijers, C.H.W.; Rieu, P.N.M.A.; Hendriks, H.S.; Brouwers, M.M.; Knoers, N.V.A.M.; Blaauw, I. de; Roeleveld, N.

    2010-01-01

    BACKGROUND: Anorectal malformations (ARM) are major congenital malformations that usually require a multitude of surgical procedures at a very early age and have a large impact on the lives of patients and their parents. The causes of ARM are still largely unknown, but they are assumed to have a mul

  8. 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

    Institute of Scientific and Technical Information of China (English)

    安悦; 王佚; 李晓庆; 艾青; 余加林; 代英; 程茜

    2014-01-01

    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

  9. 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

    Institute of Scientific and Technical Information of China (English)

    洪淳; 俞钢; 张佳立; 郭雪贞

    2016-01-01

    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

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

    Directory of Open Access Journals (Sweden)

    Lucia de Noronha

    2003-09-01

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

  11. Delay in diagnosis of congenital anal stenosis

    OpenAIRE

    Weledji, Elroy P; Motaze Sinju

    2016-01-01

    Although a minor anorectal malformation the delay in diagnosis and treatment of anal stenosis may result in significant early or late complications. Early inspection of the perineum in the neonate to pick up and correct anorectal malformation improves long term outcome but this requires proper anal examination or it could be missed. We present and discuss a case of delayed diagnosis of congenital anal stenosis (a low anorectal anomaly) with an imminent colonic perforation. Severe anal stenosi...

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

    Science.gov (United States)

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

    2014-04-30

    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.

  13. CLASSIC DANDY WALKER MALFORMATION: ANTENATAL SONOGRAPHIC FINDINGS AND POSTNATAL STATUS

    Directory of Open Access Journals (Sweden)

    Arvinder

    2014-06-01

    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

  14. 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

    Institute of Scientific and Technical Information of China (English)

    王红英; 李海波; 何亚香; 杨乃超; 邵雪君; 薛永权

    2014-01-01

    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

  15. 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

    Institute of Scientific and Technical Information of China (English)

    李佳; 黄文英; 孙格格

    2015-01-01

    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

  16. Our experience in congenital pouch colon

    Directory of Open Access Journals (Sweden)

    Gharpure Vivek

    2007-01-01

    Full Text Available Congenital pouch colon is considered to be a malformation seen only in north india. we carried out a prospective study of congenital pouch colon from 1991 to 2005 to determine what interventions are most suited for the short and long term management of this compex malformation. anatomical details, procedures and continence outcomes were recorded. patients were managed in a private and public hospital by a single surgeon. 17 patients could be enrolled in the study. we could reconstruct 16/17 patients. with aggressive bowel management, 9/14 patients could achieve continence.

  17. Delay in diagnosis of congenital anal stenosis

    Directory of Open Access Journals (Sweden)

    Elroy P. Weledji

    2016-03-01

    Full Text Available Although a minor anorectal malformation the delay in diagnosis and treatment of anal stenosis may result in significant early or late complications. Early inspection of the perineum in the neonate to pick up and correct anorectal malformation improves long term outcome but this requires proper anal examination or it could be missed. We present and discuss a case of delayed diagnosis of congenital anal stenosis (a low anorectal anomaly with an imminent colonic perforation. Severe anal stenosis will always require examination under anesthesia with graded Hegar's dilatation followed by postoperative maintenance. The Hegar dilator is thus both diagnostic and therapeutic in congenital anal stenosis.

  18. Congenital radioulnar synostosis – case report

    International Nuclear Information System (INIS)

    Congenital radioulnar synostosis is a rare malformation of the upper limb, with functional limitations of the limb. A 10-year-old child with pain and restricted mobility of the elbow joint was admitted to the hospital. Plain film radiography and CT examination was performed. Radiological examinations showed a congenital radioulnar synostosis. The child underwent surgical treatment – derotational osteotomy. Diagnostic imaging including computed tomography with three-dimentional (3D) reconstructions, preceding surgery enables planning of the surgical treatment

  19. 先天性前庭窗及相关结构畸形的影像诊断及个性化手术%Congenital Malformation of the Oval Window and Related Structure:Experience of Radiologic Diagnosis and Surgical Treatment

    Institute of Scientific and Technical Information of China (English)

    杨凤; 刘阳; 孙建军; 宋任东; 李进让

    2015-01-01

    Objective To analyse and discuss the radiological diagnosis and surgical technology of the congenital atresia of the oval window and related structure. Methods From July 2010 through August 2014, the high resolution CT (HRCT) and the multi-planar reformation (MPR) were used to detect the patients with conductive hearing loss, normal external ear canal, in⁃tact tympanic membrane, type A tympanogram and negative Gelle’s test. The patients with malformation of oval window and re⁃alated structure underwent surgical exploration. Result Six patients (ears) were detected congenital absence or atresia of the oval window with malformed facial nerve (class 4B) and two patients (ears) were detected footplate fixation (class 2). In the surgi⁃cal exploration of these ears, the malformed oval window, stapes and facial never was approved. The hearing reconstruction was made in six ears. The vestibular and promontory drilled-out technique was used to reconstruct the ossicular chain. Conclusion The coronal HRCT CT imaging and the MPR can provide us practical and definite information of abnormal oval window, stapes and facial nerve, especially in the discrimination of OW atresia plate and the fixed stapedial footplate. The promontory drill-out technique, fenestration in the bottom of the scala tympani of the basal turn, provides us a new method in the hearing reconstruc⁃tion when the area of OW was fully covered by malformed facial nerve. This technique was first reported in the literature.%目的:分析讨论先天性前庭窗缺如或闭锁的影像学诊断技术及个性化手术方法。方法采用高分辨率CT(High resolution CT, HRCT)、后期多平面重组(Multi-plane reformation, MPR)技术对2010.7-2014.8临床上表现为自幼传导性耳聋、外耳道鼓膜正常、鼓室压图为“A”型曲线、盖莱试验阴性的患者进行筛选诊断,并进行外科听力重建手术。结果术前HRCT及MPR影像诊断为先天性前庭窗畸形6例(耳

  20. HISTOLOGICAL STUDY OF NEONATAL BOWEL IN ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Amrish Tiwari

    2014-06-01

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

  1. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Edilberto de Araújo Filho

    2006-02-01

    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.

  3. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    OpenAIRE

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

    2010-01-01

    Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59...

  4. 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

    Institute of Scientific and Technical Information of China (English)

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

    2014-01-01

    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

  5. Congenital spine anomalies: the closed spinal dysraphisms

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-09-15

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

  6. Congenital anomalies after assisted reproductive technology

    DEFF Research Database (Denmark)

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

    2013-01-01

    for known confounders such as maternal age. The proportion of ART children is not negligible, and knowledge about the causes of the higher risk of congenital malformations is crucial to develop prevention strategies to reduce the future risk in ART children. The aim of this review is to summarize...... the literature on the association between ART and congenital anomalies with respect to subfertility, fertility treatment other than ART, and different ART methods including intracytoplasmic sperm injection, blastocyst culture, and cryotechniques. Trends over time in ART and congenital anomalies will also...

  7. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

    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.

  8. Bone deformities and skeletal malformations in the Roman Imperial Age.

    Science.gov (United States)

    Minozzi, Simona; Catalano, Paola; Pantano, Walter; Caldarini, Carla; Fornaciari, Gino

    2014-01-01

    This paper describes some cases of individuals affected by skeletal deformities resulting in "freak" appearance. The skeletal remains were found during large archaeological excavations in the Roman territory, carried out by the Special Superintendence to the Archeological Heritage of Rome in the last years, dated back to the Imperial Age. The first cases reported are referred to two growth disorders with opposite effects: a case of dwarfism and another of gigantism. The former concerns a young man from the Collatina necropolis with very short and malformed limbs, which allowed a diagnosis of acondroplasic dwarfism, a rare congenital disorder that limits height below 130 cm. The latter case comes from the necropolis of Torre Serpentana in Fidenae, and is instead referred to a young person of very high stature, about 204 cm, suffering from Gigantism, a rare condition which in this case seems to have been linked to a hormonal dysfunction due to a pituitary adenoma. A third case regards a joint disease affecting the vertebral column and causing severe deformities. The skeleton was found in the Collatina necropolis and belongs to an old woman, suffering from ankylosing spondylitis. Finally, the last and very peculiar case is related to an individual recovered in the necropolis of Castel Malnome. The skeletal remains belong to an adult man with a complete fusion of the temporo-mandibular joint, which compromised mastication and caused severe deformation of the maxillofacial complex. These cases are described in detail together with the possible implications that these deformities could have on in the social context. PMID:25702379

  9. Imaging features of ductal plate malformations in adults

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-11-15

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

  10. [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].

    Science.gov (United States)

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

    2001-07-01

    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.

  11. Development and Congenital Anomalies of the Pancreas

    Directory of Open Access Journals (Sweden)

    Hiroyuki Tadokoro

    2011-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Elaine Cristina Moreto Paccola

    2013-06-01

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

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

    DEFF Research Database (Denmark)

    Tomson, Torbjörn; Battino, Dina; Bonizzoni, Erminio;

    2011-01-01

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

  14. Imaging advances in upper cervical vertebral disease

    International Nuclear Information System (INIS)

    Upper cervical vertebral has complex anatomic structure and some diseases may involve this vital center area of human body. Most of the diseases, such as trauma, malformation, and degeneration, need to be treated with surgery to recover the function of cervical vertebral. The accurate evaluation is crucial before and after the surgery. In the past few years, CT, MRI, and ultra-sound play important roles in the evaluation of upper cervical vertebral diseases and planning treatment. Comprehensive evaluation with multidisciplinary approach is advocated. In this paper we reviewed the anatomy and clinic treatments; summarized the latest imaging advances in upper cervical vertebral disease; discussed the perspective of comprehensive evaluation with multidisciplinary approach. (authors)

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

    Directory of Open Access Journals (Sweden)

    Harry Mauricio Pachajoa Londoño

    2006-08-01

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

  16. 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

    Institute of Scientific and Technical Information of China (English)

    高红; 王大佳; 赵相轩; 弭杰; 白玉作; 王维林

    2015-01-01

    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。

  17. 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

    Directory of Open Access Journals (Sweden)

    Hugo André de Lima Martins

    2010-06-01

    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.

  18. Vertebral chondroblastoma

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-02-01

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

  19. Rare malformation of glans penis: arteriovenous malformation.

    Science.gov (United States)

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    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.

  20. Rare malformation of glans penis: arteriovenous malformation.

    Science.gov (United States)

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    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. PMID:23771468

  1. Giant Arteriovenous Malformation of the Neck

    Directory of Open Access Journals (Sweden)

    P. A. Dieng

    2015-01-01

    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.

  2. Building the Vertebrate Spine

    Science.gov (United States)

    Pourquié, Olivier

    2008-03-01

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

  3. Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment)

    OpenAIRE

    García-Ramos Rocío; Fernández de Gamboa Fernández de Araoz Marta; Escribano Silva Mercedes; Chesa i Octavio Ester; de la Cruz Labrado Javier; Barrón Fernández Javier; Amado Vázquez María Eugenia; Izquierdo Martínez Maravillas; Isla Guerrero Alberto; Avellaneda Fernández Alfredo; García Ribes Miguel; Gómez Carmen; Insausti Valdivia Joaquín; Navarro Valbuena Ramón; Ramón José R

    2009-01-01

    Abstract Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptom...

  4. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

    OpenAIRE

    Green, A.J.; Sandford, R. N.; Davison, B C

    1996-01-01

    We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the s...

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

    NARCIS (Netherlands)

    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.

    2012-01-01

    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.

  6. Two cases of broncho-pulmonary foregut malformations

    OpenAIRE

    Εleftherios D. Spartalis; Elias Lachanas; Dionisios Pavlopoulos; Othonas P. Michail; Anna Karakatsani; Perikles Tomos

    2009-01-01

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

  7. Two cases of broncho-pulmonary foregut malformations

    Directory of Open Access Journals (Sweden)

    Εleftherios D. Spartalis

    2009-01-01

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

  8. A case report of corgenotal cystic adenomatoid malformation

    Energy Technology Data Exchange (ETDEWEB)

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

    1987-08-15

    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.

  9. Congenital Scoliosis (Mini-review).

    Science.gov (United States)

    Weiss, Hans-Rudolf; Moramarco, Marc

    2016-01-01

    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.

  10. 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

    Institute of Scientific and Technical Information of China (English)

    李卓园; 李勇

    2011-01-01

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2005-01-01

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

  12. 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

    Institute of Scientific and Technical Information of China (English)

    董燕; 董季平; 杨军乐; 杨想春; 党珊; 刘润

    2015-01-01

    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

  13. Vertebrate Reproduction.

    Science.gov (United States)

    Kornbluth, Sally; Fissore, Rafael

    2015-10-01

    Vertebrate reproduction requires a myriad of precisely orchestrated events-in particular, the maternal production of oocytes, the paternal production of sperm, successful fertilization, and initiation of early embryonic cell divisions. These processes are governed by a host of signaling pathways. Protein kinase and phosphatase signaling pathways involving Mos, CDK1, RSK, and PP2A regulate meiosis during maturation of the oocyte. Steroid signals-specifically testosterone-regulate spermatogenesis, as does signaling by G-protein-coupled hormone receptors. Finally, calcium signaling is essential for both sperm motility and fertilization. Altogether, this signaling symphony ensures the production of viable offspring, offering a chance of genetic immortality. PMID:26430215

  14. Familial Chiari malformation: case series.

    Science.gov (United States)

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

    2011-09-01

    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.

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

    Science.gov (United States)

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

    2006-12-01

    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.

  16. 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

    Institute of Scientific and Technical Information of China (English)

    唐韶青; 梁若冰; 云鹏; 杨宇泽; 肖炜; 孙东晓

    2014-01-01

    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。

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

    Directory of Open Access Journals (Sweden)

    Md. Khaleel

    2015-01-01

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

  18. Endocrine disruptors and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Rittler Mônica

    2002-01-01

    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.

  19. Endocrine disruptors and congenital anomalies

    Directory of Open Access Journals (Sweden)

    Mônica Rittler

    2002-04-01

    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.

  20. [Genetics of congenital deafness].

    Science.gov (United States)

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

    2012-10-20

    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.

  1. Congenital peritoneal encapsulation

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

    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.

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

    Science.gov (United States)

    Al-Alaiyan, Saleh; Alfaleh, Khalid M

    2012-01-01

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

  3. Isolated congenital tracheal stenosis in a preterm newborn

    OpenAIRE

    Krause, Ulrich; Rödel, Ralph; Paul, Thomas

    2011-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Madonia Maurizio

    2011-08-01

    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

  5. Left Upper Lobectomy for Congenital Lobar Emphysema in a Low Weight Infant.

    Science.gov (United States)

    Kanakis, Meletios; Petsios, Konstantinos; Bobos, Dimitrios; Sarafidis, Kosmas; Nikopoulos, Stefanos; Kyriakoulis, Konstantinos; Lioulias, Achilleas; Giannopoulos, Nicholas

    2016-01-01

    Congenital lobar emphysema (CLE) is a rare lung congenital malformation. Differential diagnosis of the disease remains challenging in an infant with acute respiratory distress. We report a case of a 3-week-old female infant with a weight of 2.1 kg who presented respiratory distress related to CLE. Left upper lobectomy was performed and she had an uneventful recovery.

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

    NARCIS (Netherlands)

    A.C. Verkleij-Hagoort (Anna)

    2007-01-01

    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

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

    NARCIS (Netherlands)

    S.A. Obermann-Borst (Sylvia)

    2013-01-01

    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

  8. Laser treatment of oral vascular malformations

    Science.gov (United States)

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

    2014-01-01

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

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

    NARCIS (Netherlands)

    Kroes, HY; Reefhuis, J; Cornel, MC

    2002-01-01

    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

  10. PREGNANCY AND ITS OUTCOME IN WOMEN WITH MALFORMED UTERUS

    Institute of Scientific and Technical Information of China (English)

    马水清; 边旭明; 郎景和

    2002-01-01

    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.

  11. The incidence of Arnold–Chiari malformation in neurological practice

    Directory of Open Access Journals (Sweden)

    E. A. Kantimirova

    2015-01-01

    Full Text Available Arnold-Chiari malformation (ACM is a group of congenital hindbrain malformations affecting the structural relationships between the cerebellum, brain stem, top cervical spinal cord, and bones of the skull base. In clinical practice, ACM types 0 and 1 are more common and types 2, 3, and 4 belong to rare severe (often fatal congenital malformations.Objective: to study gender differences in the incidence of ACM types 0 and 1 in outpatient neurological practice.Patients and methods. A total 2039 case records of outpatients who had visited a neurologist of the Krasnoyarsk University clinic in 2008–2014 were analyzed. Neurological and neuroradiological (1.5 Tesla brain magnetic resonance imaging, phase-contrast spinal cerebral fluid flow imaging diagnostic techniques were used. 3.4% (70/2039 of cases were randomized according to the criteria of inclusion and exception. An entire sample included 70 ACM patients (median age, 25 [17; 34] years (30 (42.8–7.1% men and 40 (57.2–7.1% women.Results. There was an increase in the incidence of ACM type 1 in the women than in the men. Conclusion. It is necessary to develop a new strategy for the prophylactic medical examination of patients with ACM to improve primary and specialized outpatient health care.

  12. Association of posterior urethral valve with congenital lobar emphysema: A case report

    Directory of Open Access Journals (Sweden)

    Clecio Piçarro

    2016-04-01

    Full Text Available Posterior Urethral Valve (PUV is the most common cause of bladder outlet obstruction in boys, with an incidence of 1 in 5,000 to 8,000 male births. Congenital lobar emphysema (CLE is an uncommon cause of congenital pulmonary airway malformation, with an incidence 1 per 20,000 to 30,000 deliveries. These congenital malformations have never been described together before. A boy newborn with prenatal suspicion of PUV, confirmed in first days of live presented respiratory distress that lead CLE diagnosis. Our multidisciplinary team submitted him to a twostep surgery correction successfully

  13. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-06-15

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

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

    Directory of Open Access Journals (Sweden)

    Daniel Krebs

    2015-05-01

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

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

    Science.gov (United States)

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

    2010-01-01

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

  16. Anorectal malformations : A multidisciplinary approach

    NARCIS (Netherlands)

    D. van den Hondel (Desiree)

    2015-01-01

    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

  17. Congenital varicella syndrome in a monochorionic diamniotic twin pregnancy

    Directory of Open Access Journals (Sweden)

    Vania A Villota

    2014-01-01

    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.

  18. Congenital monomelic muscular hypertrophy of the upper extremity.

    NARCIS (Netherlands)

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

    2009-01-01

    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

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

    DEFF Research Database (Denmark)

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

    2016-01-01

    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...

  20. Congenital Leukemia

    OpenAIRE

    Raj, Aishwarya; Talukdar, Sewali; Das, Smita; Gogoi, Pabitra Kumar; Das, Damodar; Bhattacharya, Jina

    2013-01-01

    Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85–88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirme...

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

    Science.gov (United States)

    Nass, R; Melnick, J; Berenstein, A

    1998-08-01

    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.

  2. Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Atsushi Nakao

    2013-10-01

    Full Text Available Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus. Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.

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

    International Nuclear Information System (INIS)

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

  4. The clinical application of pneumocystoscopic Cohen ureter reimplantation for congenital malformation of vesicoureteral junction obstruction in children%气膀胱腹腔镜在膀胱输尿管连接处狭窄性畸形中的临床应用

    Institute of Scientific and Technical Information of China (English)

    孙玉芳; 毕允力; 阮双岁; 陆毅群; 王翔; 陆良生; 沈剑; 汤梁峰; 刘颖

    2012-01-01

    Objective To evaluate the safety and efficacy of pneumocystoscopic Cohen ureter reimplantation for congenital malformation of vesicoureteral junction obstruction in children.Methods A total of 45 children,including 26 males and 19 females,were diagnosed with vesicoureteral junction obstruction and recruited in this study.Of these patients,61 ureters were performed pneumocystoscopic cohen urcter reimplantation.Twelve ureters were trimmed during surgery.Nine ureters were inserted with Double-J stents.Foley catheters were applied on all patients after surgery.Results The procedure was completed in all but 2 were converted to open operation.Thc nean operation time was 3.5 hours (range,2 - 8 hours) for the patients with unilateral malformation,3.7 hours (range,3.5 -4.5 hours) for duplicated ureter,and 5.4 hours (range,3.5 - 9 hours) for bilatcral malformation.The mcan preservation period of urethral catheter was 6.7 days(range,3 - 14 days).Antibiotics was administered for a mean duration of 6.2 days after operation (range.3- 14 days).The mean postoperative hospital stay was 8.3 days (range,5 - 14 days).Forty eight ureters of the 35 patients were followed up for 1 to 67 months (mean,19.3 months) after discharge.Ultrasonography found most patients dilated urethral and renal pelvis was improved after surgery.One patient's bilateral ureters were still obviously dilated at 6 months after the surgery due to lowcr urinary tract infection,and the patient was performed a second ureter reimplantation and cured afterwards.DTPA of 9 patients were followed up,and suggested these patients' spilt renal function got improved or unchanged.MCU of the 14 patients found postoperative urethral reflux on 3 patients and contralateral reflux on 1.Conclusions Pneumovesical Cohen ureteral reimplantation was safe and effective for vesicoureteral junction obstruction in children.%目的 探讨气膀胱腹腔镜下输尿管再植术治疗膀胱输尿管连接处狭窄

  5. Congenital multi-organ malformations in a Holstein calf

    OpenAIRE

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement o...

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

    Science.gov (United States)

    Ranjan, Nikhil; Singh, Rana P; Upadhyay, Rohit; Kumar, Vijoy

    2015-01-01

    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. PMID:26166977

  7. [Aftereffects of congenital infections in infants].

    Science.gov (United States)

    Burdzenidze, E; Zhvania, M

    2006-12-01

    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. PMID:17261890

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

    Science.gov (United States)

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

    2012-01-01

    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.

  9. 36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

    Science.gov (United States)

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

    2016-07-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Hikmet Tekin Nacaroğlu

    2013-08-01

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

  11. [The mother figure of children with malformations. A phenomenological study].

    Science.gov (United States)

    Pinheiro, M C

    1997-01-01

    The theme of this research refers to children suffering congenital malformation through an analysis of their mothers' reactions in dealing with such a situation. It deals with a descriptive study along the qualitative line through the phenomenological approach. In order to attain that purpose, interviews were made and data collected. The analysis was built under the view of meaning, the orientation of those mothers, i.e. the outlook of the world from their perspective, which was tracked from the meanings (units of meaning) to actual sense based on the philosophical insight of Dr. Martin Heidegger, aiming at characterizing the mother-being in her daily life. PMID:9775933

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

    Energy Technology Data Exchange (ETDEWEB)

    Claiborne, A.K.; McAlister, W.H.; Martin, C.M.; Gast, M.J.

    1985-07-01

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

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

    International Nuclear Information System (INIS)

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

  14. An intramural left main coronary artery with a left sinus of valsalva aneurysm: a unique combination of congenital anomalies.

    Science.gov (United States)

    Altarabsheh, Salah Eldien; Deo, Salil V; Spitell, Peter; Araoz, Philip; Park, Soon J

    2013-02-01

    The congenital anomaly of an intramural left main coronary artery arising in the anatomically correct aortic sinus is very infrequent. Aneurysms involving the sinus of Valsalva rarely arise from the left aortic sinus. We present the clinical features and surgical correction of this rare anomaly along with a short discussion of these congenital malformations. PMID:23439356

  15. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    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.

  16. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-11-01

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

  17. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

    @@ 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.

  18. Two-Dimensional and Three-Dimensional Ultrasonography In assessment of Fetal Malformations: Routine versus Selective Use

    Directory of Open Access Journals (Sweden)

    Nahed H.Mohamed and Samia A. Sioudi

    2000-12-01

    Full Text Available Objective: This study was conducted trying to answer the question whether three-dimensional ultrasound imaging should be used routinely for prenatal screening of congenital malformations or only used selectively for specific high risk women for congenital malformations. Subjects & Methods: This study included 1000 pregnant women between 14 and 32 weeks gestation, Routine ultrasound examination was done during antenatal care of 500 pregnant women with no history of risk factors of congenital malformation, their ages were 0.05. On the other hand, there was no significant difference between selective 2-D and 3-D ultrasound examinations of high-risk group (11 (0.8 % and 1.4 % respectively, P > 0.05. There was no significant difference between routine and selective ultrasound use for detection of congenital malformations (P> 0.05. Three-dimensional ultrasound provided the same informations as 2-D ultrasound imaging in 33.33% (1/3 diagnosed anomalies of group (1 and 57.14% (4/7 anomalies of group (11. Whereas it was more accurate in diagnosis of fetal anomalies than 2-D imaging in 66.66% (2/3 anomalies of group (1 and 42.85%(3/7 anomalies of group (2..These results were not statistically significant (P>0.05. Conclusion: Many fetal malformations could be diagnosed by traditional 2-D ultrasonography, yet in some cases limitations do exist. Therefore, a high degree of expertise and training is needed. Traditional 2-D ultrasonography was used routinely early and late in pregnancy for other obstetric indications. We do not support the routine use of 3-D ultrasonography during antenatal assessment of the pregnant women . The adjunctive use of 3-D ultrasonographic imaging system with the 2-D imaging in selective cases can greatly increase diagnostic accuracy of congenital malformation. On the other hand, It is equally important to weigh the human costs against the benefit.

  19. MRI of cardiovascular malformations

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-07-01

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

  20. Congenital Defects in Neutrophil Dynamics

    Directory of Open Access Journals (Sweden)

    Marton Keszei

    2014-01-01

    Full Text Available Neutrophil granulocytes are key effector cells of the vertebrate immune system. They represent 50–70% of the leukocytes in the human blood and their loss by disease or drug side effect causes devastating bacterial infections. Their high turnover rate, their fine-tuned killing machinery, and their arsenal of toxic vesicles leave them particularly vulnerable to various genetic deficiencies. The aim of this review is to highlight those congenital immunodeficiencies which impede the dynamics of neutrophils, such as migration, cytoskeletal rearrangements, vesicular trafficking, and secretion.

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

    Directory of Open Access Journals (Sweden)

    Luis Rafael Moscote-Salazar

    2016-01-01

    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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1997-10-01

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

  3. Pulmonary arteriovenous malformations.

    Science.gov (United States)

    Shovlin, Claire L

    2014-12-01

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

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

    Science.gov (United States)

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

    2015-01-01

    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.

  5. 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

    Institute of Scientific and Technical Information of China (English)

    简洁君; 何超; 田磊; 李妮

    2016-01-01

    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

  6. Congenital hypoaldosteronism.

    Science.gov (United States)

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

    2008-08-01

    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.

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

    NARCIS (Netherlands)

    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

    2005-01-01

    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

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

    LENUS (Irish Health Repository)

    Campbell, E

    2014-09-01

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

  9. Imaging of vertebral fractures

    Directory of Open Access Journals (Sweden)

    Ananya Panda

    2014-01-01

    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.

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

    Science.gov (United States)

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

    2015-09-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-09-15

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

  12. Associated congenital anomalies: Vestibular fistula, duodenal atresia and obstructive refluxing megaureter

    Directory of Open Access Journals (Sweden)

    Bukarica Svetlana S.

    2004-01-01

    Full Text Available Congenital gastrointestinal anomalies include spectrum of malformations, simple ones as well as complex, which are associated with anomalies of other organs and systems of organs. Most infants (50-60% with imperforate anus also have genitourinary, cardiovascular, gastrointestinal and vertebral anomalies. This case report is of a female newborn with prenatally diagnosed duodenal atresia and right hydronephrosis. Clinical investigation revealed an imperforate anus with vestibular fistula. A plain abdominal x-ray showed a "double-bubble” sign, characteristic for duodenal atresia. Intraluminal membrane was excised and sigmoid colostomy was performed in general anesthesia on the first day of life. Ultrasound and intravenous pyelography confirmed a hydronephrotic right kidney and obstructive megaureter after Pena. In the fifth month of life, the ureter was tapered and reimplanted. Six months later, posterior sagittal anorectoplasty was performed. In the sewentheenth month of life the colostomy was closed. This child attained normal growth and development, normal bowel control, fecal continence without soiling, obstipation and urinary infections.

  13. Spinal vascular malformations; Spinale Gefaessmalformationen

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-05-15

    Spinal vascular malformations are a group of rare diseases with different clinical presentations ranging from incidental asymptomatic findings to progressive tetraplegia. This article provides an overview about imaging features as well as clinical and therapeutic aspects of spinal arteriovenous malformations, cavernomas and capillary telangiectasia. (orig.) [German] Spinale Gefaessmalformationen sind eine Gruppe seltener Erkrankungen mit unterschiedlichen klinischen Praesentationen, die vom asymptomatischen Zufallsbefund bis zur progredienten Tetraparese reichen. Dieser Artikel gibt einen Ueberblick ueber radiologische Befunde sowie klinische und therapeutische Aspekte von spinalen arteriovenoesen Malformationen, Kavernomen und kapillaeren Teleangiektasien. (orig.)

  14. Pediatric central nervous system vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    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)

    2015-09-15

    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.)

  15. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

    Directory of Open Access Journals (Sweden)

    Laura A. Runck

    2014-04-01

    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

  16. Intradiploic occipital pseudomeningocele in a patient with remote history of surgical treatment of Chiari malformation.

    Science.gov (United States)

    Mahaney, Kelly B; Menezes, Arnold H

    2014-11-01

    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.

  17. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

    Science.gov (United States)

    Green, A J; Sandford, R N; Davison, B C

    1996-07-01

    We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the same anal, clitoral, and foot anomalies, a solitary pelvic kidney, and no fistula. This family is likely to represent autosomal dominant inheritance of a new combination of malformations, which may overlap with the Townes-Brocks syndrome, but does not fall into a current diagnostic category. PMID:8818947

  18. Ambient Air Pollution and Cardiovascular Malformations in Atlanta, Georgia, 1986–2003

    OpenAIRE

    Strickland, Matthew J; Klein, Mitchel; Correa, Adolfo; Reller, Mark D.; Mahle, William T.; Riehle-Colarusso, Tiffany J.; Botto, Lorenzo D.; Flanders, W. Dana; Mulholland, James A.; Siffel, Csaba; Marcus, Michele; Tolbert, Paige E.

    2009-01-01

    Associations between ambient air pollution levels during weeks 3–7 of pregnancy and risks of cardiovascular malformations were investigated among the cohort of pregnancies reaching at least 20 weeks’ gestation that were conceived during January 1, 1986–March 12, 2003, in Atlanta, Georgia. Surveillance records obtained from the Metropolitan Atlanta Congenital Defects Program, which conducts active, population-based surveillance on this cohort, were reviewed to classify cardiovascular malformat...

  19. A Rare Cardiac Malformation in a Patient Presenting with Transient Ischemic Attack: Isolated Left Ventricular Diverticulum

    Directory of Open Access Journals (Sweden)

    Haldun Müderrisoğlu1

    2012-12-01

    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. Pulmonary Arteriovenous Malformation in Cryptogenic Liver Cirrhosis Associated with Turner's Syndrome

    OpenAIRE

    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

    2010-01-01

    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 occu...

  1. Socio-occupational status and congenital anomalies

    DEFF Research Database (Denmark)

    Varela, María M Morales-Suárez; Aagaard-Nohr, Ellen; Llopis-González, Agustin;

    2009-01-01

    BACKGROUND: The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring. METHODS: The study population comprised 81 435 live singletons born to mothers enrolled in the Danish National Birth Cohort between...... 1996 and 2002. A total of 3352 cases of major congenital anomalies (EUROCAT criteria) were identified by linkage to the National Hospital Discharge Register. Malformations were recorded at birth or in the first year of life. Information about maternal and paternal socio-occupational status was...... collected prospectively using telephone interviews in the second trimester of pregnancy and was categorized as high, middle or low. Associations were measured as relative prevalence ratios using the highest socio-occupational status within the couple as the reference group. RESULTS: The prevalence of all...

  2. Ectrodactyly/split hand feet malformation

    OpenAIRE

    Jindal Geetanjali; Parmar Veena; Gupta Vipul

    2009-01-01

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

  3. Giant congenital melanocytic nevus in a bulgarian newborn.

    Science.gov (United States)

    Chokoeva, A A; Fioranelli, M; Roccia, M G; Lotti, T; Wollina, U; Tchernev, G

    2016-01-01

    Giant congenital melanocytic nevus (GCMN) is a rare disorder affecting 1 in 200,000–500,000 live births. Central nervous system defects such as spina bifida, meningocele, Dandy Walker malformation may accompany it and thus cause significant morbidity. Despite the related risk for malignant transformation, GCMNs may be associated with neurocutaneous melanosis, a rare syndrome in which a giant CMN or multiple smaller CMNs are accompanied by melanocytic deposition in the brain and the spinal cord. We present a case of a 5-day-old newborn with giant congenital melanocytic nevus on his back, as we discuss the diagnostic and treatment approach. PMID:27373137

  4. Management of congenital choanal atresia: A pedodontist′s role

    Directory of Open Access Journals (Sweden)

    Fathima Niloofar

    2015-01-01

    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.

  5. Bochdalek Congenital Diaphragmatic Hernia in an Adult Sheep

    Science.gov (United States)

    Williams, R. D.; Katz, M. G.; Fargnoli, A. S.; Kendle, A. P.; Mihalko, K. L.; Bridges, C. R.

    2016-01-01

    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

  6. Arteriovenous Malformation: A Case Report

    International Nuclear Information System (INIS)

    The present case illustrates an arteriovenous malformation of the cheek in a 25-year-old male. The clinical presentation, radiographic findings, differential diagnosis, treatment and histopathologic description are presented. Diagnosis of the lesion was confirmed by angiography, and the lesion was treated by angiographically controlled vascular embolization followed by complete surgical excision.

  7. Arteriovenous malformations in Cowden syndrome.

    Science.gov (United States)

    Turnbull, M M; Humeniuk, V; Stein, B; Suthers, G K

    2005-08-01

    Cowden syndrome (OMIM No 158350) is a pleomorphic, autosomal dominant syndrome characterised by hamartomas in tissues derived from the endoderm, mesoderm, and ectoderm. It is caused by germline mutations in the PTEN gene and is allelic to the Bannayan-Riley-Ruvalcaba and Lhermitte-Duclos syndromes. The three syndromes are defined on clinical grounds but there is overlap in their definitions. The clinical features include trichilemmomas, verrucose lesions of the skin, macrocephaly, intellectual disability, cerebellar gangliocytoma, thyroid adenomas, fibroadenomas of the breast, and hamartomatous colonic polyps. Cutaneous haemangiomas are occasionally noted. Malignancies often arise in the affected tissues. Visceral arteriovenous malformations are a recognised component of the Bannayan-Riley-Ruvalcaba syndrome but have been reported rarely in Cowden syndrome. A family is described with a clinical diagnosis of Cowden syndrome, a familial frameshift mutation in the PTEN gene, and large visceral arteriovenous malformations. The association of these pleomorphic syndromes with arteriovenous malformations can be explained by the putative role of the PTEN gene in suppressing angiogenesis. Recognition of arteriovenous malformations as a clinical feature of Cowden syndrome has implications for the clinical management of patients with this disorder. PMID:16061556

  8. CLINICAL STUDY OF ANORECTAL MALFORMATIONS

    OpenAIRE

    Umesh; Sowmya,

    2015-01-01

    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)...

  9. [Congenital Esophageal Atresia].

    Science.gov (United States)

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  10. Left Upper Lobectomy for Congenital Lobar Emphysema in a Low Weight Infant

    Directory of Open Access Journals (Sweden)

    Meletios Kanakis

    2016-01-01

    Full Text Available Congenital lobar emphysema (CLE is a rare lung congenital malformation. Differential diagnosis of the disease remains challenging in an infant with acute respiratory distress. We report a case of a 3-week-old female infant with a weight of 2.1 kg who presented respiratory distress related to CLE. Left upper lobectomy was performed and she had an uneventful recovery.

  11. Association between chemical pattern in breast milk and congenital cryptorchidism: modelling of complex human exposures

    DEFF Research Database (Denmark)

    Krysiak-Baltyn, Konrad; Toppari, J.; Skakkebaek, N. E.;

    2012-01-01

    in 130 breast milk samples from Danish and Finnish mothers. Half the newborns were healthy controls, whereas the other half was boys with congenital cryptorchidism. The measured chemicals included polychlorinated biphenyls (PCBs), polybrominated diphenyl‐ethers, dioxins (OCDD/PCDFs), phthalates...... been too rapid to be explained by genetics alone. To study the association between complex chemical exposures of humans and congenital cryptorchidism, the most common malformation of the male genitalia, we measured 121 environmental chemicals with suspected or known endocrine disrupting properties...

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

    International Nuclear Information System (INIS)

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

  13. Congenital Heart Diseases in the Newborns of Diabetic Mothers: an Echocardiographic Study

    OpenAIRE

    S Rahimpour; V Modarresi; Behjati, M; MA Behjati

    2011-01-01

    Introduction: Despite the discovery of insulin and current improvement in diabetics care, congenital malformations in diabetics are still more frequent than in the general population. The aim of this study was to identify congenital heart dieases (CHD) in the newborns of diabetic mothers (IDMS). Methods: In our prospective study, color doppler echocardiography was performed in 75 consecutive full- term newborns of diabetic mothers by GE Vivid3 echocardiographic device. Newborns were classifie...

  14. Grynfelt lumbar hernias. Presentation of a congenital case. Hernias lumbares de Grynfelt. Presentación de un caso de origen congénito

    Directory of Open Access Journals (Sweden)

    Sergio Elías Molina Lamothe

    2006-04-01

    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.

  15. Abnormal Congenital Location of Stapes’ Superstructure: Clinical and Embryological Implications

    Directory of Open Access Journals (Sweden)

    Vânia Henriques

    2016-01-01

    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.

  16. Congenital infiltrative lipomas and retroperitoneal perirenal lipomas in a calf

    OpenAIRE

    Agerholm, Jørgen Steen; McEvoy, Fintan; Goldschmidt, Michael H.

    2016-01-01

    Background Congenital lipocytic tumours have rarely been reported in cattle. Lipomas are benign tumours, but infiltrative lipomas have significant health implications due to their aggressive infiltrative growth pattern. Case presentation A calf was born with skeletal malformations and soft tissue proliferations, primarily on the external thoracic wall. The calf was euthanized for welfare reasons and submitted for post mortem examination. Necropsy, histopathology and post mortem computed tomog...

  17. PHACE syndrome and congenitally absent thyroid gland at MR imaging.

    Science.gov (United States)

    Mamlouk, Mark D; Yu, John-Paul J; Asch, Sarah; Mathes, Erin F

    2016-01-01

    PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging. PMID:26995578

  18. Congenital heart disease in the newborn requiring early intervention

    Directory of Open Access Journals (Sweden)

    Sin Weon Yun

    2011-05-01

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

  19. Classification and diagnosis of ear malformations

    Directory of Open Access Journals (Sweden)

    Bartel-Friedrich, Sylva

    2007-01-01

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

  20. Intraneural Venous Malformations of the Median Nerve

    Science.gov (United States)

    González Rodríguez, Alba; Midón Míguez, José

    2016-01-01

    Venous malformations arising from the peripheral nerve are a rare type of vascular malformation. We present the first case of an intraneural venous malformation of the median nerve to be reported in a child and review the previous two cases of median nerve compression due to a venous malformation that have been reported. These cases presented with painless masses in the volar aspect of the wrist or with symptoms suggestive of carpal tunnel syndrome. Clinical suspicion should lead to the use of Doppler ultrasonography as the first-line diagnostic tool. Magnetic resonance imaging and histopathology can confirm the diagnosis, as phleboliths are pathognomonic of venous malformations. Surgical treatment appears to be the only modality capable of successfully controlling the growth of an intraneural malformation. Sclerotherapy and radiotherapy have never been used to treat this type of malformation.

  1. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse ... Genetic Testing Registry: Congenital hypothyroidism Genetic Testing Registry: Hypothyroidism, ... Encyclopedia: Congenital Hypothyroidism These resources ...

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

    Directory of Open Access Journals (Sweden)

    Prehn Lea R

    2010-05-01

    the evolution of vertebrate kidney systems and human diseases associated with congenital malformations.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2005-02-01

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

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

    International Nuclear Information System (INIS)

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

  5. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

    Science.gov (United States)

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  6. Perinatal risk factors including malformation

    International Nuclear Information System (INIS)

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

  7. Prenatal diagnosis of cloacal malformation.

    Science.gov (United States)

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. PMID:26969229

  8. Atypical vertebral Paget's disease.

    Science.gov (United States)

    Beaudouin, Constance; Dohan, Anthony; Nasrallah, Toufic; Parlier, Caroline; Touraine, Sébastien; Ea, Korng; Kaci, Rachid; Laredo, Jean-Denis

    2014-07-01

    A 40-year-old Mauritanian man consulted for back pain. A computed tomography of the spine showed patchy sclerosis of the fifth and seventh thoracic vertebral bodies with normal neural arch of T5 and sclerosis and hypertrophy of the neural arch of T7, as well as diffuse sclerosis of the T11 vertebral body with a normal neural arch. At MRI, low signal-intensity on T1-weighted images and high signal-intensity on T2-weighted images involved the whole T5 and T7 vertebrae and the vertebral body of T11. Working diagnoses included metastatic disease and lymphoma, and a biopsy of T7 and then T11 was carried out. Both showed pathological findings very suggestive of Paget's disease. Since CT is usually the more specific radiological examination in vertebral Paget's disease, we thought it could be useful to report this atypical CT presentation (patchy sclerosis of the vertebral body without diffuse bone texture changes and isolated involvement of the vertebral body) of vertebral Paget's disease. PMID:24445956

  9. Adult congenital heart disease

    OpenAIRE

    Morphet, John AM

    2006-01-01

    One million people over the age of 20 suffer from congenital heart disease in the United States. These adult patients can slip through the cracks of our medical system; many are too old to be cared for in most pediatric institutions by pediatric cardiologists and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to identify the common lesions in adult congenital heart disease and how they should be managed. Acyanotic congenital he...

  10. [The "candlestick" technique for the correction of certain types of congenital metacarpal synotosis].

    Science.gov (United States)

    Foucher, G; Medina, J; Bollecker, V; Lorea, P

    2002-10-01

    Metacarpal synostosis is a rare congenital hand malformation requiring only occasionally a surgical correction. However in case of divergent epiphyses there is a progressive accentuation of the deformity. In the "Y" type of symmetrical synostosis, the authors propose a trapezoidal osteotomy with upside down relocation allowing realignement of the epiphyses without distant bone donor site. PMID:12491705

  11. PETER’S TYPE II ANOMALY ASSOCIATED WITH CONGENITAL HEART DEFECT: RARE CASE REPORT

    OpenAIRE

    Darshan Kumar; Sunil G

    2015-01-01

    PURPOSE: Reporting a case of Peters’ type II with congenital heart defect a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. It is characterized by central corneal opacification secondary to defects in a posterior corneal stroma, Descemet's membrane, and endothelium. Majority of cases are sporadic, bilateral , and associated with other systemic malformations. MATERIAL AND METHOD: A...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-04-15

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

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

    International Nuclear Information System (INIS)

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

  14. Study of various congenital anomalies in fetal and neonatal autopsy

    Directory of Open Access Journals (Sweden)

    V. Siva Sankara Naik

    2015-05-01

    Full Text Available Background: The study of dead is to save the livings. The growing awareness that still births and infant mortalities are unable to reduction has led to a wide spread desire for more information regarding the cause of these deaths. Congenital malformations have become important cause of fetal and neonatal (perinatal mortality in developed countries and would very soon be increasingly important determinants of fetal and neonatal mortality in developing countries like India. In spite of antenatal diagnostic modality still the fetal autopsy plays the vital role in the conformation as well as identification of congenital anomalies and also for the counseling of the parents, to prevent the fetal congenital anomalies in further pregnancies. This study was undertaken with the purpose of finding out cause of death during the perinatal period at government maternity hospital and pediatric department S.V.R.R.G.G.H. and S.V. medical college Tirupati, and to study the clinical and pathological findings (Gross and microscopic in fetal and neonatal death. Methods: The present study of congenital anomalies in fetal and neonatal deaths was done at S.V. medical college, Tirupati, over a time period of 2 years from September 2008 to 2010 August. Consent for autopsy in requested compassionately, respectfully and fully informed. The present study included dead fetus and neonates with gestational age above 20 weeks of intra uterine life and within 7 days of post natal life. All fetuses of gestational age <20 weeks and all neonates above 7 days of age were excluded from the study. The study also obtained clearance from the ethical committee of the institution. Autopsy was performed by standard technique adopted by Edith L. Potter. External and internal findings followed by histopathological examination, and autopsy findings were compared with available ultrasound findings. Results: A total of 46 Autopsies performed, 40 (87% were fetal deaths, 6 (13% were early

  15. Smooth ocular pursuit in Chiari type II malformation.

    Science.gov (United States)

    Salman, Michael S; Sharpe, James A; Lillakas, Linda; Steinbach, Martin J; Dennis, Maureen

    2007-04-01

    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.

  16. Spontaneous ileal perforation complicating low anorectal malformation

    Directory of Open Access Journals (Sweden)

    TiJesuni Olatunji

    2015-01-01

    Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

  17. Ectrodactyly/split hand feet malformation

    Directory of Open Access Journals (Sweden)

    Jindal Geetanjali

    2009-01-01

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

  18. Congenital heart disease and chromossomopathies detected by the karyotype

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2014-06-01

    Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

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

    Science.gov (United States)

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

    2015-03-01

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

  20. Vertebral osteomyelitis without disc involvement

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-10-01

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

  1. Prenatal diagnosis of Chiari malformation with syringomyelia in the second trimester.

    Science.gov (United States)

    Iruretagoyena, Jesus Igor; Trampe, Barbara; Shah, Dinesh

    2010-02-01

    Routine anatomic ultrasound performed in the second trimester has a detection rate of approximately 70-90% for fetal congenital abnormalities (Nyberg and Souter, J Ultrasound Med 2001;6:655-674). The central nervous system abnormalities are one of the most common ones detected. Chiari malformation is among the CNS abnormalities diagnosed in the fetal period (Bianchi et al., Fetology - diagnosis and management of the fetal patient, McGraw-Hill, 2000). The Arnold-Chiari malformation was first described in 1883 by Cleland (Romero et al., Prenatal diagnosis of congenital anomalies, Appleton and Lange, 1988). It is characterised by the prolapse of the hindbrain structures below the level of the foramen magnum. It can be associated with skeletal abnormalities and neurological dysfunction. In type I, a lip of cerebellum is downwardly displaced with the tonsils, but the fourth ventricle remains in the posterior fossa. This condition may coexist with syringomyelia, which is a cyst formation on the cervical portion of the spinal cord (Creasy et al., Maternal fetal medicine principles and practice, 2004). We present a case where Chiari type 1 and syringomyelia detected at 18 weeks of gestation. The reason for referral to our center was an abnormal inward posturing of both upper and lower extremities (minimal gross movement and almost inexistent range of motion on fetal joints). On further fetal evaluation, an abnormal brain ultrasound was identified. Prenatal diagnosis of Chiari type 1 malformation and syringomyelia is almost nonexistent when reviewing the literature is the reason why this case is presented.

  2. Newborn hydrocolpos secondary to congenital imperforate hymen: a case report; Volumoso hidrocolpo em neonato: relato de caso

    Energy Technology Data Exchange (ETDEWEB)

    Wosny, Cristiane; Medeiros, Bruno Cunha de; Funari, Marcelo Buarque de Gusmao [Hospital Israelita Albert Einstein, Sao Paulo SP, (Brazil). Dept. de Radiologia], e-mail: cristianewosny@hotmail.com; Sameshima, Yoshino Tamaki; Baratella, Jose Roberto de Souza; Kim, Martha Hanemann; Corpa, Maria Carolina Ercoli; Quadros, Marianne Siquara de; Francisco Neto, Miguel Jose [Hospital Israelita Albert Einstein, Sao Paulo, SP (Brazil)

    2009-01-15

    The authors report a case of newborn hydrocolpos secondary to congenital imperforate hymen. This anomaly is a rare condition, since most cases of imperforate hymen are diagnosed in the prepubertal period with the delay of menarche. The objective of this report is to demonstrate ultrasound findings of newborn hydrocolpos and make a review of literature about it. It is vital to search other congenital malformations that may be associated. (author)

  3. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    DEFF Research Database (Denmark)

    Longoni, Mauro; Hansen, Kasper Lage; Russell, Meaghan K.;

    2012-01-01

    Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high‐resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub‐band 8p23.1. We confirm a regio...... and their interaction networks. © 2012 Wiley Periodicals, Inc....

  4. Subfascial involvement in glomuvenous malformation

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-07-15

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

  5. Vascular tumors and malformations of the colon

    Institute of Scientific and Technical Information of China (English)

    Israel Fernandez-Pineda

    2009-01-01

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

  6. Congenital abnormalities in methylmercury poisoning

    Energy Technology Data Exchange (ETDEWEB)

    Gilani, S.H.

    1975-04-01

    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)

  7. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

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

  8. Radiological case: congenital scoliosis

    OpenAIRE

    Macedo, F.

    2010-01-01

    ABSTRACT We present a case of a two month old infant with clinical suspicion of congenital torticollis because of lateral flexion of the head and neck since birth. There was no response to physiotherapy and the neck ultrasound was normal. An x-ray of the cervical and dorsal spine showed congenital scoliosis with failure of formation in certain vertebras. The diagnosis of congenital scoliosis must be considered in cases of abnormal tilting of the head and neck.

  9. Congenital Heart Disease in Pregnancies Complicated by Maternal Diabetes Mellitus : An International Clinical Collaboration, Literature Review, and Meta-Analysis Angeborene Herzfehlbildungen bei mütterlichem Typ-1-Diabetes in der Schwangerschaft. Internationale klinische Multicenterstudie, Literaturübersicht und Metaanalyse

    NARCIS (Netherlands)

    L.A. Lisowski; P.M. Verheijen; J.A. Copel; C.S. Kleinman; S. Wassink; G.H.A. Visser; E.J. Meijboom

    2010-01-01

    PURPOSE: : Investigation of the incidence and distribution of congenital structural cardiac malformations among the offspring of mothers with diabetes type 1 and of the influence of periconceptional glycemic control. METHODS: : Multicenter retrospective clinical study, literature review, and meta-an

  10. Bilateral Vocal Cord Palsy with Arnold Chiari Malformation: A Rare Case Series

    Science.gov (United States)

    Arora, Nikhil; Meher, Ravi; Bhargava, Eishaan K.

    2016-01-01

    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

  11. Association of Chiari I malformation and cerebellar ectopia with sensorineural hearing loss.

    Science.gov (United States)

    Haktanir, Alpay; Yücedağ, Fatih; Kaçar, Emre; Ulu, Sahin; Gültekin, Mehmet Ali; Ünlü, Ebru; Bucak, Abdülkadir; Ayçiçek, Abdullah

    2013-07-01

    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.

  12. Vertebral artery aneurysms.

    Directory of Open Access Journals (Sweden)

    Ravi Kumar C

    2000-04-01

    Full Text Available Vertebral artery (VA aneurysms are rare. We present our experience with three cases of VA aneurysms. Two aneurysms were located close to the origin of basilar artery while the third patient had a giant posterior inferior cerebellar artery aneurysm. These aneurysms were operated by the far lateral inferior suboccipital approach with good results.

  13. Pregnant women with congenital heart disease: cardiac, anesthetic and obstetrical implications.

    Science.gov (United States)

    Fernandes, Susan M; Arendt, Katherine W; Landzberg, Michael J; Economy, Katherine E; Khairy, Paul

    2010-03-01

    Remarkable advances in surgical and clinical management have resulted in survival to adulthood in the large majority of patients with congenital heart malformations, even with the most complex disease. Over 1 million adults with congenital heart disease currently live in the USA, approximately half of whom are women of childbearing age. Collectively, congenital malformations are the most common form of heart disease in pregnant women. Indeed, in North America, congenital defects are now the leading cause of maternal morbidity and mortality from heart disease. This article begins with a summary of cardiovascular changes during pregnancy and highlights key features in pre-pregnancy counseling, maternal cardiac and obstetric risk, and neonatal complications. Management issues regarding pregnancy and delivery are elaborated, including anesthesia considerations. While it is beyond the scope of this article to discuss particulars related to all forms of congenital heart disease, selected subtypes are detailed at greater length. In the absence of clinical trial evidence to inform the care of pregnant women with congenital heart disease, this article is inspired by the premise that knowledgeable multidisciplinary assessment and management provides the best opportunity to substantially improve outcomes for mother and baby. PMID:20222821

  14. Turner syndrome with spinal hemorrhage due to vascular malformation.

    Science.gov (United States)

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong

    2015-12-01

    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.

  15. Turner syndrome with spinal hemorrhage due to vascular malformation.

    Science.gov (United States)

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong

    2015-12-01

    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. PMID:26817012

  16. Turner syndrome with spinal hemorrhage due to vascular malformation

    Science.gov (United States)

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Kim, Duk Hee; Kim, Ho-Seong

    2015-01-01

    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. PMID:26817012

  17. 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

    Institute of Scientific and Technical Information of China (English)

    张涛; 陶惠人; 黄景辉; 李涛; 沈超; 陈博; 陈向波; 杨卫周; 刘明

    2015-01-01

    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

  18. Clinical analysis on 81 fetuses with fetal malformation%81例胎儿畸形临床分析

    Institute of Scientific and Technical Information of China (English)

    陈蔚; 胡春霞; 金松

    2011-01-01

    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

  19. Comparative genomic analysis of slc39a12/ZIP12: insight into a zinc transporter required for vertebrate nervous system development.

    Directory of Open Access Journals (Sweden)

    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.

  20. Comparative genomic analysis of slc39a12/ZIP12: insight into a zinc transporter required for vertebrate nervous system development.

    Science.gov (United States)

    Chowanadisai, Winyoo

    2014-01-01

    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.

  1. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

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

  2. Management of osteoporotic vertebral fractures

    Directory of Open Access Journals (Sweden)

    Yannis Dionyssiotis

    2010-06-01

    Full Text Available Yannis DionyssiotisRhodes General Hospital, Rhodes, GreeceAbstract: Osteoporotic vertebral fractures are associated with considerable reduction of quality of life, morbidity, and mortality. The management of patients with vertebral fractures should include treatment for osteoporosis and measures to reduce pain and improve mobility. This article provides information for management and rehabilitation of vertebral fractures based on clinical experience and literature.Keywords: vertebral fracture, quality of life, rehabilitation, osteoporosis

  3. Use of Inhaled and Oral Corticosteroids in Pregnancy and the Risk of Malformations or Miscarriage

    DEFF Research Database (Denmark)

    Bjørn, Anne-Mette Bay; Ehrenstein, Vera; Nohr, Ellen Aagaard;

    2014-01-01

    databases, this MiniReview provides an overview of inhaled and oral corticosteroid use in pregnancy with specific emphasis on the association between use of corticosteroids during pregnancy and risk of miscarriage and congenital malformations in offspring. Use of corticosteroids among pregnant women ranged...... are inconsistent. Use of inhaled corticosteroids was associated with a slightly increased the risk of miscarriage, whereas use of oral corticosteroids was not; however, confounding by indication could not be ruled out. This article is protected by copyright. All rights reserved....

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

    LENUS (Irish Health Repository)

    McCarthy, Claire

    2012-01-01

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

  5. Sylvian fissure lipoma with angiomatous component and associated brain malformation: A case report.

    Directory of Open Access Journals (Sweden)

    Shruti Thakur

    2013-12-01

    Full Text Available Intracranial lipomas are congenital malformations. These uncommon lesions have an incidence of 0.1 to 1.7% of all intracranial tumors. Most cases are located at midline and 5% are along the sylvian fissures. If symptomatic, seizures are the most common symptom. These tumors are slow growing and have favorable outcome. We report a case of a 25-year-old man whose CT and MRI revealed a lesion in right sylvian fissure suggesting a lipoma with abnormal vasculature and overlying cortical dysplasia.

  6. A rare case of type 1 C split cord malformation with single dural sheath

    OpenAIRE

    Garg, Kanwaljeet; Ashok K Mahapatra; Tandon, Vivek

    2015-01-01

    Split cord malformation (SCM) is a rare congenital anomaly in which the cord is split over a portion of its length to form double dural tubes (SCM type I) or two hemicords in a single dural sheath (SCM type II). Dachling Pang classified SCM into 2 types with type I SCM consisting of two hemicords, each contained within its own dural sheath and separated by rigid osseocartilaginous median septum. We report a rare case of SCM type 1 c in which there was a single dural sheath.

  7. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik;

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia i...

  8. Congenital Hepatic Fibrosis

    Directory of Open Access Journals (Sweden)

    MH Antikchi

    2010-09-01

    Full Text Available Congenital hepatic fibrosis (CHF is a rare disease that primarily involves hepatobiliary and renal systems. It is characterized by hepatic fibrosis, portal hypertension and renal cystic disease. We present a 22 years old man with fever, abdominal pain, icterus and hematemesis. On complete work up of the patient and liver with kidney biopsy, the diagnosis was congenital hepatic fibrosis.

  9. Congenital Insensitivity to Pain

    Directory of Open Access Journals (Sweden)

    Praveen Kumar B,

    2011-01-01

    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.

  10. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

    DEFF Research Database (Denmark)

    Goriely, Anne; Hansen, Ruth M S; Taylor, Indira B;

    2009-01-01

    Genes mutated in congenital malformation syndromes are frequently implicated in oncogenesis, but the causative germline and somatic mutations occur in separate cells at different times of an organism's life. Here we unify these processes to a single cellular event for mutations arising in male germ...

  11. Unilateral pulmonary artery stenosis and late-onset cataract in an adult: a case of suspected congenital rubella syndrome

    Institute of Scientific and Technical Information of China (English)

    LIU Yang; GUO Jun; ZHAO Rui-fu; WANG Lin

    2012-01-01

    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.

  12. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    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.

  13. Predicting vertebral bone strength by vertebral static histomorphometry

    DEFF Research Database (Denmark)

    Thomsen, Jesper Skovhus; Ebbesen, Ebbe Nils; Mosekilde, Lis

    2002-01-01

    The study investigates the relationship between static histomorphometry and bone strength of human lumbar vertebral bone. The ability of vertebral histomorphometry to predict vertebral bone strength was compared with that of vertebral densitometry, and also with histomorphometry and bone strength...... of 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...

  14. Congenital anomalies in paediatric surgery in North India

    Directory of Open Access Journals (Sweden)

    Babita Jangra

    2014-01-01

    Full Text Available Background: Congenitalmal formation represents defects in morphogenesis during early foetal life. Congenital anomalies account for 8-15% of perinatal deaths and 13-16% of neonatal deaths in India. The proportion of perinatal deaths due to congenital malformations is increasing as a result of reduction of mortality due to other causes owing to the improvement in perinatal and neonatal care. Materials and Methods: A retrospective record based study was conducted in the Paediatric Surgery Department of a Tertiary Care Institute of North India. The records of over a decade (2003-2012 were analysed. A total of 4305 cases of congenital anomalies were recorded in the study. All the data were entered in the excel spread sheet and analysed in SPSS version 17. (Statistical Package for the Social Sciences, a software package used for statistical analysis, officially named "IBM SPSS Statistics". Results: Over the decade, a total of 14264 children were admitted in the paediatric surgery department with various problems. Out of these about one-third children (30.18% had one or other type of congenital anomalies. This trend remained almost constant over the decade within a range of 26.8-33.6%. About half of the total congenital anomalies belonged to the gastro-intestinal tract, followed by genitourinary tract, central nervous system and other anomalies. All the anomalies were more common in males and were found in children belonging to rural communities. Conclusions: All the neonates should be examined with scrutiny for overt as well as occult congenital anomalies and Paediatric surgical care should be considered as an essential component of child health programmes in developing populations. Moreover, it is necessary to establish a registry system for congenital anomalies.

  15. Malformed frog survey Dahomey NWR - 2001

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report contains field data sheets assoicated with malformed frog survey on Dahomey NWR in 2001. Work was done in support of regional sampling on refuges for...

  16. Presenting Symptoms of Chiari Type I Malformation

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-06-01

    Full Text Available Clinical and radiographic predictors of neurologic symptoms were investigated in a population-based retrospective study of 51 children identified with Chiari I malformation at the University of California, and Kaiser Department of Radiology, San Francisco.

  17. What Is an Arteriovenous Malformation (AVM)?

    Science.gov (United States)

    ... T. Quiz 5 Things to Know About Stroke What Is an Arteriovenous Malformation (AVM)? Updated:Jun 20, ... About AVMs Symptoms and Bleeding Diagnosis and Treatment What is a brain AVM? Normally, arteries carry blood ...

  18. Vein of Galen Malformation: Outcome after Embolization

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-12-01

    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.

  19. Gamma knife radiosurgery for cerebral arteriovenous malformations.

    Science.gov (United States)

    Kemeny, A A; Radatz, M W R; Rowe, J G; Walton, L; Hampshire, A

    2004-01-01

    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.

  20. Ultrasound evaluation of female genital system malformations

    International Nuclear Information System (INIS)

    An anatomical study of uterine malformation has become quite frequent in obstetrics and gynaecology because of the increasing use of corrective surgery. More than 100 cases were reviewed and the authors discuss some examples in order to present all kinds of uterine malformations which can be detected by ultrasound together with hysterosalpingography. A comparison of the diagnostic data obtained with the two methods shows US to be able to solve several cases. Hysterosalpingography is mandatory in famale infertility when there is a need for examining Fallopian tube patency in addition to the morphological characteristics of the uterine cavity. The results obtained with the two methods in the syudy of uterine malformations allow the formulation of a diagnostic protocol concerning the study of infertile women. First of all, US must be performed, in order to exclude some causes of overian infertility and major uterine malformations. Hysterosalpingography should be performed when US does not prove to be totally reliable

  1. Genetics Home Reference: cerebral cavernous malformation

    Science.gov (United States)

    ... Awad IA. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance. Neurosurgery. 2004 Jul;55(1): ... with a qualified healthcare professional . About Genetics Home Reference Site Map Contact Us Selection Criteria for Links ...

  2. Hsp90 selectively modulates phenotype in vertebrate development.

    Directory of Open Access Journals (Sweden)

    Patricia L Yeyati

    2007-03-01

    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.

  3. Terminal hemimyelocystocele associated with Chiari II malformation

    Directory of Open Access Journals (Sweden)

    Umamaheswara Reddy V.

    2014-06-01

    Full Text Available Terminal myelocystocele (TMC results from failure of embryonic CSF to drain outside the neural tube creating CSF reservoir within a dorsal meningocele. Association of Chiari II malformation with diastematomyelia and myelocystocele is extremely rare. Myelocystoceles do not have neural tissue so they have good prognosis after treatment, however when associated with hydromelia and Chiari malformation they present with neurological deficits. We present details of a 2 year old female who presented to us with this rare anomaly.

  4. Animal Models in Studying Cerebral Arteriovenous Malformation

    OpenAIRE

    Ming Xu; Hongzhi Xu; Zhiyong Qin

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal ...

  5. Syringomyelia associated with Chiari malformation in children

    Energy Technology Data Exchange (ETDEWEB)

    Sakamoto, Hiroaki; Kitano, Shouhei; Nishikawa, Misao; Yasui, Toshihiro [Osaka City General Hospital (Japan); Fujitani, Ken; Hakuba, Akira; Nakanishi, Naruhiko

    1997-02-01

    Among 28 patients with myelomeningocele (MMC group), the myelomeningocele in all patients was repaired shortly after birth, and a shunt was implanted for the associated hydrocephalus in 18 patients. MRI of the group of 28 indicated 20 were afflicted with Chiari II malformation, and the remaining 8 by Chiari I malformation. Among 8 patients lacking myelomeningocele (non-MMC group), seven demonstrated a large syrinx at the cervical and cervico-thoracic level; only one had a syrinx extending from the cervical level down to the lumbar level. None of these patients had hydrocephalus. Surgical decompression to improve cerebrospinal fluid (CSF) flow at the major cistern improved neurological signs in 7 patients. MRI indicated 4 patients were afflicted with Chiari I malformation, and the remaining 4 with Chiari II malformation. In the MMC group, the initial development of the syrinx at the lumbar level may be the result of a combination of occlusion of the caudal end of the central canal brought about by repair of the myelomeningocele and CSF flow into the hydromyelic cavity via the patent proximal portion of the central canal. In the non-MMC group, the syringomyelia may be considered an early onset type of syringomyelia associated with adult type Chiari malformation because the location of the syrinx was quite similar to that found in adult type Chiari malformation, and decompressive surgery was quite effective. In the non-MMC group, turbulence of the CSF now at the major cistern caused by the herniated cerebellum plays an important role in the enlargement of the syringomyelia. To offer greater appropriate management of pediatric Chiari malformation accompanied by syringomyelia, the malformation should be classified not by degree of the herniated brain tissue but by its association with neural tube defect (myelomeningocele). (K.H.)

  6. Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.

    Science.gov (United States)

    Orme, Charisse M; Boyden, Lynn M; Choate, Keith A; Antaya, Richard J; King, Brett A

    2013-01-01

    Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation-arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition.

  7. Etiopathogenesis of equinovarus foot malformations.

    Science.gov (United States)

    Bacino, Carlos A; Hecht, Jacqueline T

    2014-08-01

    Congenital talipes equinovarus (CTEV) is the most common musculoskeletal birth defect affecting approximately 1/700-1/1000 of liveborns. Even though extensive epidemiological and genetic studies have been carried out to address its causes, the precise mechanisms leading to this common birth defect remain elusive. CTEV is a multifactorial disorder, hence the combination of genetic and environmental factors are known contributors to this developmental abnormality. So far a handful of genes involved in limb patterning like PITX1, HOXA, HOXD, TBX4, and RBM10, as well as genes involved in muscle contraction, have been identified as possible players. Among many environmental factors investigated, maternal smoking seems to hold the strongest consistent association with this disorder. This article will review and discuss some of the most common genetic and environmental factors associated with the etiopathogenesis of CTEV.

  8. Congenital anomalies associated with hypothyroidism.

    OpenAIRE

    Bamforth, J S; Hughes, I; Lazarus, J; John, R.

    1986-01-01

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

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

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Addor, Marie-Claude;

    2009-01-01

    OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include...... information about livebirths, fetal deaths with GA>/=20weeks and terminations of pregnancy for fetal anomaly (TOPFA). All cases from the four registries diagnosed with congenital hydrocephalus and born in the period 1996-2003 were included in the study. Cases with hydrocephalus associated with neural tube...... defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from...

  10. Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

    Science.gov (United States)

    Lazier, Joanna; Mah, Jean K; Nikolic, Ana; Wei, Xing-Chang; Samedi, Veronica; Fajardo, Carlos; Brindle, Mary; Perrier, Renee; Thomas, Mary Ann

    2016-01-01

    Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.

  11. Modified steel basket technique for the treatment of equine cervical vertebral stenotic myelopathy - a case report

    OpenAIRE

    Frederico Fernandes Araújo; Monalisa Lukascek Castro; Luciane Laskoski; Mariana Pavelski; Ivan Deconto; Peterson Triches Dornbusch

    2015-01-01

    Cervical vertebral stenotic myelopathy (CVSM), also known as cervical ataxia or wobbler syndrome, is caused by the narrowing of the medullary canal due to a malformation of the cervical vertebrae, resulting in compression of the spinal cord and neurological alterations such as ataxia, hypermetria, weakness, and abnormal stance. The treatment options can be conservative or surgical, with varied effectiveness. The most appropriate surgical technique in the majority of cases is arthrodesis, prov...

  12. Bochdalek Congenital Diaphragmatic Hernia in an Adult Sheep.

    Science.gov (United States)

    Williams, R D; Katz, M G; Fargnoli, A S; Kendle, A P; Mihalko, K L; Bridges, C R

    2016-06-01

    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 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

  13. Congenital myasthenia gravis.

    Science.gov (United States)

    Nizamani, Noor Bakht; Talpur, Khalid Iqbal; Memon, Mariya Nazish

    2013-07-01

    Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis. PMID:23823963

  14. A STUDY OF CRANIOFACIAL CONGENITAL ANOMALIES IN THE MALWA REGION (MADHYA PRADESH

    Directory of Open Access Journals (Sweden)

    Seema

    2016-02-01

    Full Text Available Development of foetus is a complex chain of events, millions of factors affect it. The rapid decline in the infant mortality & morbidity in the developed countries has focused the attention of pediatricians on the problems of congenital malformations. It is impossible to know all the factors at this juncture. But so far we have come to know some factors responsible for these congenital malformations. A study was done to detect various craniofacial congenital anomalies in Malwa region (M.P. with the aim to know various etiological factors and to emphasize importance of early treatment to prevent disfigurement and functional defects; 120 patients with craniofacial congenital anomalies attending government and private hospitals of the Indore city during the period of 01/06/2009 to 31/12/2010 were taken for the study. These patients were examined for different craniofacial congenital anomalies. A detailed history and examination was carried out to evaluate relationship of sex, religion, socioeconomic status, environmental factors, maternal age, parity, occupation of parents with various craniofacial anomalies. We detected various craniofacial congenital anomalies ranging from cleft lip and palate, ear deformities, macrostoma, nose deformities, ptosis, facial nerve paralysis and vascular malformations. Most common anomaly was cleft lip and palate followed by haemangioma, hairy naevus, ear deformities and ptosis. These anomalies were significantly high in children belonging to low socioeconomic group. Exposure of pregnant mothers to agricultural chemicals and smoking were other significant factors. This study also shows that incidence of cleft lip and palate was relatively high in children who were born to mothers having age less than 20 years.

  15. Imaging findings in congenital hepatic fibrosis

    Energy Technology Data Exchange (ETDEWEB)

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

    2007-01-15

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

  16. Concomitant slide tracheoplasty and cardiac operation for congenital tracheal stenosis associated with VACTERL.

    Science.gov (United States)

    Wu, En-Ting; Wang, Ching-Chia; Lin, Ming-Tai; Huang, Pei-Ming; Chen, Shyh-Jye; Huang, Chi-Hsiang; Hwang, Haw-Kwei; Chen, Ming-Ren; Huang, Shu-Chien

    2013-10-01

    The association of congenital tracheal stenosis and tracheoesophageal (TE) fistula is rare. Here, we report 2 patients with tracheobronchial stenosis (complete cartilage ring) involving the lower trachea and right bronchus. Both patients had associated VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, TE, renal, and limb defects) congenital cardiac defects and tracheal diverticula after repair of the TE fistula in type C esophageal atresia. The stenotic segment began at the orifice of the TE fistula, which became diverticula after the TE fistula was repaired. Concomitant repair of congenital cardiac defects and a slide tracheoplasty with elimination of the diverticula were performed successfully. PMID:24088476

  17. Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

    LENUS (Irish Health Repository)

    Dempsey, M A

    2010-03-01

    An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

  18. Perineal Groove: A Rare Congenital Midline Defect of Perineum.

    Science.gov (United States)

    Harsono, Mimily; Pourcyrous, Massroor

    2016-03-01

    Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up. PMID:26929866

  19. Vertebral Fracture Prediction

    DEFF Research Database (Denmark)

    2008-01-01

    Vertebral Fracture Prediction A method of processing data derived from an image of at least part of a spine is provided for estimating the risk of a future fracture in vertebraeof the spine. Position data relating to at least four neighbouring vertebrae of the spine is processed. The curvature...... of the spine at at least two of the neighbouring vertebrae is calculated. The different curvature values are computed to obtain a value representative of the degree of irregularity in curvature of the spine and using the degree of irregularity, an estimate of the risk of a future fracture in vertebrae...

  20. Congenital heart disease

    Science.gov (United States)

    ... blood sugar level. Certain genes may play a role in congenital heart disease. Many family members may be affected. Talk to your provider about genetic counseling and screening if you have a family history ...

  1. Congenital lobar emphysema

    Science.gov (United States)

    Tural-Kara, Tuğçe; Özdemir, Halil; Çiftçi, Ergin; İnce, Erdal

    2016-01-01

    Congenital lobar emphysema is a rare disease, which is characterized by pulmoner hyperinflation. Depending on the degree of bronchial obstruction, the clinical presentation may be variable. We report a rare case with congenital lobar emphysema in a 38-days-old male infant who presented with severe respiratory distress and hypertension. Air trapping in the left upper lung and significant mediastinal shift to the right were observed on the chest x-ray. Emphysematous changes were detected on the thorax computed tomography and considered as congenital lobar emphysema. The upper left lobectomy was successfully performed by pediatric surgeons. On postoperative follow up, no sign of respiratory distress occurred and the patient was normotensive. In this report, a case with congenital lobar emphysema, which is a rare cause of respiratory distress and hypertension is discussed. PMID:27381542

  2. Congenital nephrotic syndrome

    Science.gov (United States)

    The disorder often leads to infection, malnutrition, and kidney failure. It can lead to death by age 5, and many children die within the first year. Congenital nephrotic syndrome may be controlled in some cases with early ...

  3. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  4. Congenital hyperinsulinism in Ukraine

    DEFF Research Database (Denmark)

    Globa, E.; Zelinska, N.; Flanagan, S.;

    2015-01-01

    Background: Congenital hyperinsulinism (CHI) has not been studied in the Ukraine. Objective and hypotheses: We investigated the genetic aetiology and treatment of patients with CHI. Method: Routine clinical and laboratory investigations were performed in children with hypoglycaemia. Genetic testi...

  5. Congenital adrenal hyperplasia

    Science.gov (United States)

    ... to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. It is important for parents ...

  6. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

  7. Congenital Ocular Motor Apraxia

    OpenAIRE

    J Gordon Millichap

    2007-01-01

    The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls) with congenital ocular motor apraxia (COMA) are reviewed by researchers at Tottori University, Yonago, Japan.

  8. Congenital histiocytosis X

    International Nuclear Information System (INIS)

    Congenital histiocytosis X involving multiple organs is a rare disease that causes rapid mortality in intrauterine and neanatal life. The diagnosis of histiocytosis X (Litterer-Siwe disease should be considered in a neonate with vesiculated crusting skin lesions. We present clinical, radiographic and histopathological findings in a neonate with congenital histiocytosis who died of respiratory failure due to diffuse infilteration of lungs with histiocytic cells. Congenital histiocytosis X is a rare form of Langerhans cell histiocytosis. We report on an infant with congenital histiocytosis X who died within 10 days of birth due to diffuse infiltration of multiple organ systems with Langerhans histiocytic cells. To our knowledge, this is the first case of the radiographic illustration of progressive lung involvement in an infant with histiocytosis X. (orig.)

  9. 1st and 2nd Trimester Headsize in Fetuses with Congenital Heart Disease: A Cohort Study

    DEFF Research Database (Denmark)

    Lauridsen, Mette Høj; Petersen, Olav Bjørn; Vestergaard, Else Marie;

    2014-01-01

    Background: Congenital heart disease (CHD) is associated with neuro-developmental disorders. The influence of CHD on the brain may be present in the fetus. We hypothesize that fetal cerebral growth is impaired as early as 2nd trimester. Aim: To investigate if fetal cerebral growth is associated...... and screening for fetal malformations is carried out. Our cohort includes all fetuses in Western Denmark (2.9 million inhabitants) screened in between January 1st 2012 and December 31st 2013, diagnosed with any structural, non-syndromic congenital heart disease either during pregnancy or up to 6...

  10. Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report.

    Science.gov (United States)

    Dinlen, N; Zenciroğlu, A; Dilli, D; Aydin, B; Beken, S; Okumuş, N

    2014-01-01

    Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.

  11. Neonatal screening to detect critical congenital cardiac disease. A revolution in pediatrics

    Directory of Open Access Journals (Sweden)

    Vela Amieva Marcela

    2014-07-01

    Full Text Available There is solid evidence that demonstrate the usefulness of routine oxygen saturation testing in every apparently healthy newborn after 24 hours of life and before 48 hours. This procedure is known as “newborn screening for critical congenital heart disease” and serves to detect timely those congenital structural cardiac malformations with hypoxema, such as heart syndrome, pulmonary valve atresia, truncus arteriosus, total anomalous pulmonary vein connection, complete transposition of the great arteries, tetralogy of Fallot and tricuspid valve atresia. This test has been included in the mandatory neonatal screening panel of many countries and its generalization all over the world, seems imminent.

  12. Radiological evaluation congenital gastrointestinal tract anomalies

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Young Hee; Kim, Ock [Hanil Hospital, Seoul (Korea, Republic of); Jang, Jung Wha [Seoul Nationl Hospital, Seoul (Korea, Republic of)

    1983-06-15

    With the improvements, during recent years, in the control of the infections and nutritional diseases the subject of congenital malformation becomes of increasing importance. The radiologic signs are crucial for prompt diagnosis of anomalies of alimentary tract and with early identification of resulting complication, surgical therapy is usually life-saving. 30 cases of congenital anomalies of alimentary tract in infants were reviewed in respect of age, sex, incidence and radiological findings. The results are summarized as follows; 1, The most common lesion was hypertrophic pyloric stenosis, followed by congenital megacolon and anorectal anomaly, tracheoesophageal fistula, intestinal atresia. 2. Male outnumbered female in most congenital anomalies of alimentary tract. 25 cases were under the age of 1 month. 3. Common symptoms of upper gastrointestinal tract obstruction are vomiting and abdominal distension. In the obstruction of lower gastrointestinal tract, abdominal distension and failure of meconium passage were noted. 4. Roentgenologic findings were as follows, a. Chest A-P and lateral view: In tracheoesophageal fistula, saccular dilatation of upper esophagus and displacement of trachea anterolaterally were the most common finding. b. Simple abdomen: Obstructive pattern of proximal portion of duodenum shows in 11 cases, of distal bowel shows in 16 cases. Duodenal atresia showed 'double bubble' sign, hypertrophic pyloric stenosis showed marked gastric distension, paucity of air in small bowel and increases gastric peristalsis were the most common findings. Hirschsprung's disease showed absenced of rectal gas almostly. The variable length between blind hindgut to anus was seen in anorectal anomalies. c. Esophagogram: Blind sac of upper esophagus was seen at the 4th thoracic spinal level and displacement of trachea anterolaterally. 1 case of tracheoesophageal fistula had an intact esophageal lumen. d. Upper G-I series: In hypertrophic pyloric

  13. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the ma...

  14. Congenital chylous ascites

    OpenAIRE

    Romańska-Kita, Justyna; Borszewska-Kornacka, Maria Katarzyna; Dobrzańska, Anna; Rudzińska, Iwona; Czech-Kowalska, Justyna; Wawrzoniak, Tomasz

    2011-01-01

    Summary Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity.

  15. Major and minor arterial malformations in patients with cutaneous vascular abnormalities.

    Science.gov (United States)

    Pascual-Castroviejo, Ignacio; Pascual-Pascual, Samuel I; Viaño, Juan; López-Gutierrez, Juan C; Palencia, Rafael

    2010-05-01

    The association of persistent embryonic arteries and the absence of 1 carotid or vertebral arteries with facial or neck hemangioma or vascular malformation have been frequently described. The abnormalities can involve major or minor vessels. Of 22 patients of our series with this neurocutaneous syndrome, 20 had the origin of both anterior cerebral arteries from the same internal carotid artery. Thirteen patients showed absence or hypoplasia of 1 carotid artery and 10 of 1 vertebral artery; 10 showed persistence of the trigeminal artery; 3 had persistent proatlantal artery; 6 showed the absence of the posterior communicating artery; and 4 had hypoplastic posterior cerebral artery. Other less frequent abnormalities were found in 7 patients. Intellectual level of most patients was either borderline or below normal. Abnormalities in the vascularization and perfusion of the frontal lobes may contribute to the borderline or lower mental level of these patients. PMID:19808986

  16. Vertebral Angiosarcoma. Case Study.

    Science.gov (United States)

    Guzik, Grzegorz

    2015-01-01

    Bone angiosarcomas, especially vertebral angiosarcomas, are very rare. There are no studies based on large clinical samples in the literature, and only a few single case reports can be found. The symptoms of the disease are not specific. It is usually detected incidentally or at a late stage when pathological vertebral fractures or neurological complications occur. Diagnostic imaging and history help to recognize the tumour behind the symptoms, but do not allow accurate clinical diagnosis. The basis for a diagnosis is the histopathological examination supported by immunohistochemistry (IHC) assays. The case of a 26-year-old woman with an angiosarcoma involving the eighth thoracic vertebra we report reflects diagnostic problems adversely affecting the efficacy and accuracy of treatment offered to patients. The patient underwent three surgeries of the spine, including two biopsies. A needle biopsy did not provide sufficient information for the diagnosis. An open excisional biopsy, which at the same time temporarily reduced neurological deficits in the patient, was the only chance to obtain an accurate diagnosis. The third surgery was posterior decompression of the spinal cord due to the rapidly escalating paraparesis. It was not until 8 weeks later that the final diagnosis was established. At that time, the patient could not be qualified for any supplementary treatment. The patient died in hospital 6 months after the onset of disease. PMID:26468177

  17. Malformations of the craniocervical junction (Chiari type I and syringomyelia: classification, diagnosis and treatment).

    Science.gov (United States)

    Fernández, Alfredo Avellaneda; Guerrero, Alberto Isla; Martínez, Maravillas Izquierdo; Vázquez, María Eugenia Amado; Fernández, Javier Barrón; Chesa i Octavio, Ester; Labrado, Javier De la Cruz; Silva, Mercedes Escribano; de Araoz, Marta Fernández de Gamboa Fernández; García-Ramos, Rocío; Ribes, Miguel García; Gómez, Carmen; Valdivia, Joaquín Insausti; Valbuena, Ramón Navarro; Ramón, José R

    2009-01-01

    Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptoms is established with neuroimaging techniques. The most effective therapy for patients with Chiari type I malformation/syringomyelia is surgical decompression of the foramen magnum, however there are non-surgical therapy to relieve neuropathic pain: either pharmacological and non-pharmacological. Pharmacological therapy use drugs that act on different components of pain. Non-pharmacological therapies are primarily based on spinal or peripheral electrical stimulation. It is important to determine the needs of the patients in terms of health-care, social, educational, occupational, and relationship issues, in addition to those derived from information aspects, particularly at onset of symptoms. Currently, there is no consensus among the specialists regarding the etiology of the disease or how to approach, monitor, follow-up, and treat the condition. It is necessary that the physicians involved in the care of people with this condition comprehensively approach the management and follow-up of the patients, and that they organize interdisciplinary teams including all the professionals that can help to increase the quality of life of patients. PMID:20018097

  18. Echocardiographic evaluation of right ventricular function in congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    Yiu-fai Cheung

    2014-01-01

    Objective This review aims to provide an overview of conventional and novel indices used in clinical and research arenas for evaluation of right ventricular (RV) function in congenital heart diseases with a dual-chambered circulation.Data sources Articles cited in this review were selected using PubMed search of publications in English with no date limits.The search terms included "echocardiography","right ventricle","RV function","cardiac function",and "congenital heart disease".Key references were also searched for additional publications.Study selection Articles related to description of echocardiographic techniques in the evaluation of subpulmonary or systemic RV function and their applications in congenital cardiac malformations were retrieved and reviewed.Results Three approaches have been used to evaluate subpulmonary and systemic RV function:(1) assessment of changes in RV size in the cardiac cycle,(2) determination of Doppler-derived velocities and systolic and diastolic time intervals,and (3) quantification of myocardial velocities and deformation.Conclusions Conventional and novel echocardiographic techniques enable the evaluation of subpulmonary and systemic RV function.Novel echocardiographic techniques have further allowed quantification of RV volumes and direct interrogation of myocardial deformation.These new techniques show promise in a more comprehensive evaluation beyond "eye-bailing" of RV function in the growing population of adolescent and adult congenital heart patients.

  19. [Numerical variants and congenital fusions of carpal bones].

    Science.gov (United States)

    Senecail, B; Perruez, H; Colin, D

    2007-03-01

    The number of carpal bones may be increased or decreased by the fact of anatomical variants or true congenital anomalies. Numerical increment arises from additional or from split bones. Over twenty accessory carpal bones have been described but the commonest are the os centrale carpi, the os radiale externum, the triangular bone and the styloideum bone. Additional carpal bones usually result from a failure of fusion of their ossification centers. A congenital origin is not clearly established for all these ossicles. The scaphoid and lunate may split into two or three bones and several cases of bipartite hamulus of the hamatum have been reported. A carpus with only seven bones results from the congenital absence of a normal bone, which mainly affects the scaphoid, lunate and triquetrum, or from a synostosis between two carpal bones, usually the lunate and triquetrum. Congenital fusions originate from an absence of joint cavitation into the embryo and chondrification of the joint interzone. Numerical carpal variants are uncommon as independent entities but occur with a relative high frequency in association with complex malformations of the hand. These anomalies are detectable on plain radiographs of the wrist, but CT-scan and MR-Imaging are useful to differentiate bipartite and accessory bones from carpal fractures or posttraumatic injuries, carpal fusions having to be distinguished from bony ankylosis.

  20. Nutritional Approach of Pediatric Patients Diagnosed with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Togănel Rodica

    2013-04-01

    Full Text Available Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.