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Sample records for congenital vertebral malformations

  1. Pediatric congenital vertebral artery arteriovenous malformation

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

  2. Pediatric congenital vertebral artery arteriovenous malformation.

    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

  3. Pediatric congenital vertebral artery arteriovenous malformation

    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.)

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

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

    2014-01-01

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

  5. Computer-Assisted Radiographic Calculation of Spinal Curvature in Brachycephalic “Screw-Tailed” Dog Breeds with Congenital Thoracic Vertebral Malformations: Reliability and Clinical Evaluation

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

    2014-01-01

    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...

  6. Causes of Congenital Malformations

    J Gordon Millichap

    2002-01-01

    The genetic epidemiology of congenital malformations (CMs) and interaction with environmental causes are reviewed from the Arkansas Center for Birth Defects, Arkansas Children’s Hospital, Little Rock, AS.

  7. Congenital spinal malformations

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

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

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

    2014-01-01

    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. PMID:25198374

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

    Julien Guevar

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

  10. Computer-Assisted Radiographic Calculation of Spinal Curvature in Brachycephalic “Screw-Tailed” Dog Breeds with Congenital Thoracic Vertebral Malformations: Reliability and Clinical Evaluation

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

    2014-01-01

    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. PMID:25198374

  11. Cerebral palsy and congenital malformations

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

    2007-01-01

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

  12. Prevalence of Congenital Malformations

    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.

  13. Treatment of congenital malformations.

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  14. Congenital malformations in multiple births

    Sharada B. Menasinkai

    2013-06-01

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

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

    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

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

    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

  17. Congenital vascular malformations in scintigraphic evaluation

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Summary Background 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. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies a...

  18. Characterization of Live Birth with Congenital Malformations

    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.

  19. Congenital cardiac malformations in congenital hypothyroid patients in Isfahan

    Mohammad Reza Sabri

    2006-11-01

    Full Text Available BACKGROUND: Congenital hypothyroidism (CH often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfahan. METHODS: In this cross-sectional study, cardiac malformations were determined in CH patients were compared to controls using echocardiography. The association between cardiac malformations and mean T4 and TSH concentrations, etiology of CH according to radiologic findings and permanent and transient CH were studied in CH patients. RESULTS: Overall, 96 and 59 subjects were included in the case and control groups, respectively. Cardiac malformations were present in 30.2% (n = 29 and 15.2% (n = 9 of case and control groups, respectively; i.e. a higher prevalence in CH patients than in controls (P = 0.03. The prevalence of cardiac malformations without patent foramen oval was 6.25% (n = 6 in CH patients and 1.7% (n = 1 in control group (P = 0.1. There was no significant association between the presence of cardiac malformations and the aforementioned variables. CONCLUSIONS: High prevalence of cardiac malformations in CH patients strongly suggests the potential involvement of genetic factors in the pathogenesis of CH. This emphasizes on the necessity of genetic studies involving CH patients. KEY WORDS: Congenital hypothyroidism, cardiac malformations, genetics.

  20. Congenital malformation of inner ear, single cavity

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

  1. MR findings of congenital anorectal malformation

    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.

  2. Congenital spinal malformations; Kongenitale spinale Malformationen

    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.)

  3. Congenital vascular malformations in scintigraphic evaluation

    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

  4. Valproic acid monotherapy in pregnancy and major congenital malformations

    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....

  5. Maternal smoking in pregnancy and risk for congenital malformations

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

    2014-01-01

    registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

  6. Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

    Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-07-01

    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 pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

  7. Genetic causes of congenital brain malformations in epilepsy patients

    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....

  8. Open resections for congenital lung malformations

    Mullassery Dhanya

    2008-01-01

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

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

    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.

  10. Twin pregnancy in the congenital malformed uterus.

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity. PMID:26757792

  11. Congenital malformations in twins in England and Wales.

    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...

  12. Urogenital tract anomalies in children with congenital anorectal malformation

    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

  13. Congenital ossicular malformation. A study of 27 ears

    Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

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

    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.

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

    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.

  16. Urogenital tract anomalies in children with congenital anorectal malformation

    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...

  17. Antidepressant exposure during early pregnancy and congenital malformations

    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...

  18. Echography of congenital malformations of the central nervous system

    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

  19. Behavioral Effects of Congenital Ventromedial Prefrontal Cortex Malformation

    Boes Aaron D; Grafft Amanda; Joshi Charuta; Chuang Nathaniel A; Nopoulos Peg; Anderson Steven W

    2011-01-01

    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 testin...

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

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

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

    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."

  2. Lymphangiosarcoma complicating extensive congenital mixed vascular malformations.

    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

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

    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

  4. Gross congenital malformation at birth in a government hospital

    Sandeep Sachdeva

    2014-01-01

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

  5. [Congenital malformations of the external and middle ear].

    Wang, Zhaoyan; Yang, Jun; Wu, Hao

    2013-07-01

    Congenital malformations of the external and middle ear is the common reason of pediatric hearing impairment and cosmic problem. The treatment composes of auricular plastic surgery and auditory reconstruction surgery. The use of BAHA, vibrant sound-bridge and tissue engineering materials can significantly improve the treatment outcomes. PMID:24073571

  6. Congenital malformations and maternal occupational exposure to glycol ethers

    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

  7. DANDY-WALKER MALFORMATION: A RARE CONGENITAL ANOMALY

    Uroos

    2014-08-01

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

  8. Congenital malformations in newborns of alcoholic mothers

    Maria dos Anjos Mesquita; Conceição Aparecida de Mattos Segre

    2010-01-01

    Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects ...

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

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

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

    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

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

    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...

  12. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    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.

  13. Electroencephalography in congenital malformations of the central nervous system.

    Campos, P; Cruz, G; Lizarraga, R; Bancalari, E; Guillen, D; Castañeda, C

    1994-12-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a 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. PMID:7611945

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

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

    2012-01-01

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

  15. Prenatal diagnosis of congenital renal and urinary tract malformations

    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...

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

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

    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

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

    Koichiro Abe

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

  18. Prevalence of congenital malformation in newborns of the public hospital

    Aritana Pereira Ramos

    2008-01-01

    Full Text Available The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the fact-gathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn and bad-congenital formation. The results show predominance of 3.1% of born infants been with evil-congenital formation. Among these, it prevailed the of the male sex (64,0%, premature (56,7% of normal birth (56,7%, with adequate weight (70,0%, classified in the majority of isolated form (76,7%, of smaller clinical importance (63,0% and evolving for high hospital with 60.0% of the cases; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system, however this pathology next to of the osteomuscular system. The majority of the mothers had between 17 and 24 years (46,7%, carried out more of seven consults prenatal (30,0% and live in the urban zone of the town (60,0%; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system. Those finds are compatible with others finds described in the Brazilian scientific literature, what is going to reflect about the implementation of public politics with infrastructure qualified service implementation in the perspective of prevention, detection and cares of those individuals in all of the levels of the net of health.

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

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

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

    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.

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

    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.

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

    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.

  3. Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations: a nationwide cohort study

    Jimenez-Solem, Espen; Andersen, Jon Traerup; Petersen, Morten; Broedbaek, Kasper; Jensen, Jonas Krogh; Afzal, Shoaib; Gislason, Gunnar H.; Torp-Pedersen, Christian; Poulsen, Henrik Enghusen

    2012-01-01

    Objectives To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. Design Register-based retrospective nationwide cohort study, using the Danish Medical Birth Registry. Setting Denmark. Participants Pregnant women in Denmark between 1997 and 2009 and their offspring. Primary outcome measures For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic re...

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

    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

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

    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.

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

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

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

    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 a...

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

    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...

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

    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.......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....

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

    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

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

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

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

    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...

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

    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...

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

    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

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

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

    2001-01-01

    A recently observed lethal congenital defect of purebred Holstein calves is reported. Eighteen genetically related calves were necropsied. One calf had been aborted on gestation day 159, and the others were delivered between day 250 and day 285. Birth weights were reduced. The defect was characte...

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

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

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

    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

  18. Surveillance of congenital malformations in Belarus. Chernobyl aftermath

    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

  19. Seasonal prevalence of major congenital malformations in the Fylde of Lancashire 1957-1981.

    Bound, J. P.; Harvey, P W; Francis, B J

    1989-01-01

    The seasonal prevalence of major congenital malformations was studied in a prospective survey of 88,449 children born in the circumscribed Fylde of Lancashire to residents there over 25 years. Ascertainment was thought to be as complete as was practically possible because cases were recorded daily by one, and for 17 years the only, paediatrician and a very high rate of necropsies was maintained. The number of malformations were classified by month of maternal last menstrual period and seasona...

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

    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.

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

    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

  2. [Minor congenital malformations: prognostic indicator of ill-being of an infant born by alcoholic mother].

    Khatskel', S B; Popov, I V

    2005-01-01

    This work presents the results of a comparative analysis of risk factors and phenotypical characteristics of 228 children with fetal alcohol syndrome and of 347 children with hypoxicischemic encepalopathy. The study of a phenotype detected that an average number of minor congenital malformations in children with fetal alcohol syndrome was equal to 12.2 while in comparison group it was equal to 7.3. High prevalence of stigmata was associated with an increased frequency congenital malformations of internal organs and mental disorders in children by the age of 4. PMID:16381318

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

    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.

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

    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

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

    Mohammad K. Gandhi; Upendra Rameshbhai Chaudhari; Nilesh Thakor

    2016-01-01

    Background: Congenital malformation represents defects in morphogenesis during early fetal life. Congenital anomalies account for 8-15% of perinatal deaths and 13-16% of neonatal deaths in India. The objective was to study overall and individual incidence and distribution of clinically detectable congenital malformations in newborns delivered at a tertiary hospital. Methods: The present study is a prospective study of all the newborns delivered at Obstetrics and Gynecology Department, New ...

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

    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)

  7. Congenital Tracheal Web Malformation in a Wild Brown Bear ( Ursus arctos ), Sweden, 2010.

    Ågren, Erik O; Söderberg, Arne

    2016-04-28

    We describe a congenital tracheal web malformation in a wild female brown bear (Ursus arctos) yearling that was euthanized after being hit by a train in Norrbotten County, Sweden, December 2010. A 3-cm-long, abnormal, longitudinal mucosal fold divided the trachea into two halves, without obviously blocking the airflow. PMID:27054473

  8. Bisphenol A induces otolith malformations during vertebrate embryogenesis

    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.

  9. Congenital malformations and damage in early infancy of the central nervous system

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

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

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

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

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

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

    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

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

    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

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

    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

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

    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.

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

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

    2015-01-01

    ). Sensitivity analyses restricted to severe malformations, children of maternal painters with ≥2 years of pre-pregnancy exposure, and firstborn children, and analyses with maternal healthcare assistants and kitchen workers as reference supported the main results. Also, no associations were found when including...... diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female...

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

    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

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

    Rafael Fabiano Machado Rosa

    2010-01-01

    Full Text Available OBJETIVO: Verificar a frequência e tipos de cardiopatias congênitas em uma amostra de pacientes portadores de espectro óculo-aurículo-vertebral (EOAV, tentando correlacionar a presença desta malformação com suas demais características clínicas e evolução. MÉTODOS: A amostra foi composta por 33 indivíduos, todos atendidos em um mesmo centro, no período de janeiro de 1975 a dezembro de 2007. Vinte e dois deles eram do sexo masculino e 11 do feminino e suas idades variaram de 1 dia a 17 anos. Todos apresentavam avaliação cariotípica normal por bandas GTG. Realizou-se uma coleta de dados referentes à sua história clínica, exame físico e resultado de avaliações complementares. RESULTADOS: Anormalidades cardíacas foram observadas em 13 pacientes (39,4%. Dessas, cinco (38,5% eram do tipo conotruncal, sendo o principal defeito a tetralogia de Fallot (n=2. Malformações não usuais identificadas incluíram o cor triatriatum e a dupla via de entrada de ventrículo esquerdo. Diferenças significativas entre as características clínicas do grupo com e sem cardiopatia foram verificadas somente em relação à idade na primeira avaliação, que foi mais baixa naqueles com malformações cardíacas. Cinco indivíduos foram a óbito, quatro deles portadores desses defeitos. CONCLUSÃO: Malformações cardíacas, em especial dos tipos conotruncal e septal, são frequentes entre pacientes com EOAV. A frequência encontrada em nosso estudo foi estatisticamente similar à da maior parte dos trabalhos descritos na literatura, que oscila de 18% a 58%. As cardiopatias congênitas também representam a principal causa de óbito desses indivíduos. Portanto, uma avaliação cardiológica, especialmente precoce, deveria ser sempre realizada nesses pacientes.OBJECTIVE: To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS, in an effort to correlate presence of these

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

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

    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

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

    Overholt, A C; Atri, D

    2015-01-01

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

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

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

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

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

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

  4. The crossover lung segment: congenital malformation associated with a variant of scimitar syndrome.

    Clements, B S; Warner, J O

    1987-01-01

    Three cases of a congenitally misplaced segment of lung are described. In one case the abnormal segment was identified at thoracotomy; it extended from an origin in the right upper lobe across the midline into the left hemithorax. The remaining two patients, with identical radiographic features, were identified in a review of 24 cases of bronchovascular malformation. In all three patients the crossover segment was associated with a variant of the scimitar syndrome: right lung hypoplasia with ...

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

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

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

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

    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...

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

    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.

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

    Narayanappa Harini

    2012-01-01

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

  10. Pulmonary congenital cystic adenomatoid malformation involving upper lobe with successful surgical management

    Rajiv Garg

    2011-10-01

    Full Text Available A four-week-old infant born after a normal vaginal delivery presented with dyspnea of one month duration. His radiologic evaluation showed multiple cystic lesions involving the left upper lobe, although lower lobe is the usual site. It was removed after pnemonectomy and the fi nal pathological diagnosis was congenital cystic adenomatoid malformation (type II. The postoperative follow up showed excellent recovery and normal development of the child.

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

    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.)

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

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

  13. An unusual prenatal manifestation of a huge congenital cystic adenomatoid malformation with favorable perinatal outcome

    Suk, Hye-Jin; Won, Hye-Sung; Lee, Eun Jung; Lee, Mi-Young

    2014-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare condition which is easily detectable by prenatal ultrasonography. Fetuses with large CCAMs associating with hydrops are predisposed to perinatal mortality, therefore prenatal intervention is required. While macrocystic CCAM is treated prenatally by thoracentesis or thoraco-amniotic shunt, microcystic or mixed CCAM is difficult to manage in the fetus. In these latter lesions, fetal lobectomy, sclerotherapy, or laser ablation was used ...

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

    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

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

    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.

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

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

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

    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

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

    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.

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

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

    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.)

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

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

  1. Are congenital vertebral anomalies and spina bifida cystica aetiologically related?

    Lendon, R G; Wynne-Davies, R; Lendon, M

    1981-01-01

    Radiological records of 104 patients with multiple vertebral anomalies without apparent spina bifida and 112 infants with spina bifida cystica were surveyed and the incidences of hemivertebrae and of rib, vertebral body, and vertebral arch fusions were recorded. The distributions of these four anomalies along the vertebral axis were found not to be statistically different between the two age groups. This is additional evidence to support the hypothesis that multiple vertebral anomalies and an...

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

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

    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.

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

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

    2015-09-01

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

  4. Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil.

    Vianna, G S; Medeiros, P F V; Alves, A F; Silva, T O; Jehee, F S

    2016-01-01

    In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. Blood samples were collected from the proband and from their parents when possible. DNA was extracted and investigated using the array-CGH test. Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER). Forty-seven copy number variations (CNVs) were identified in 43/200 (21.5%) patients, including 25/98 (25.5%) in males and 22/102 (21.57%) in females. We considered 33 of these to be clinically significant, reaching a diagnosis rate of 16.5%. The sizes of the CNVs varied from 102 kb to 24 Mb in deletions and from 115 kb to 140 Mb in duplications. In 10/47 (21.3%) patients, the rearrangement involved a sex chromosome. Thirty-nine patients had one chromosomal aberration, while 2 concomitant abnormalities were detected in 4 patients. Ten of 47 CNVs (21.3%) were > 5Mb in size. Fifteen patients had CNVs related to known syndromes. This research highlights the contribution of submicroscopic chromosomal changes to the etiology of intellectual disability and/or congenital malformation, particularly the implication of chromosomal abnormalities detected using an array-CGH test, with a high rate of 16.5%. Thus, our results support the use of array-CGH replacing standard karyotype as the first-tier cytogenetic diagnostic test for patients with multiple congenital anomalies and/or intellectual disability. PMID:26909975

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

    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

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

    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)

  7. Staged corrective surgery for complex congenital scoliosis and split cord malformation.

    Qureshi, Muhammad Asad; Asad, Ambreen; Pasha, Ibrahim Farooq; Malik, Arslan Sharif; Arlet, Vincent

    2009-09-01

    Congenital scoliosis associated with split cord malformation raises the issue on how to best manage these patients to avoid neurologic injury while achieving satisfactory correction. We present the case of a 12-year-old girl who first presented when she was 11-year old with such combination but without much physical handicap or neurological deficit. The corrective surgery offered at that time was refused by the family. She again presented after 1 year with documented severe aggravation of the curve resulting in unstable walking and psychological upset. Her imaging studies showed multiple malformations in lower cervical and thoracic spine and a split cord malformation type 2 (fibrous septum with diplomyelia) at the apex of the deformity. A one-stage correction was deemed neurologically too risky. We therefore performed during a first stage a thoracotomy with anterior release. This was followed by skeletal traction with skull tongs and bilateral femoral pins. After gradual increase in traction weights a reasonable correction was achieved without any neurological deficit, over the next 10 days. A second-stage operation was done on the 11th day and a posterior instrumented fusion was performed. Post-operative recovery was uneventful and there were no complications. She was discharged with a Boston Brace to be worn for 3 months. At 2-year follow-up the patient outcome is excellent with excellent balance and correction of the deformity. In this grand round case, we discuss all the different option of treatment of congenital scoliosis associated with split cord malformation. In a medical environment where spinal cord monitoring is lacking, we recommend an initial release followed by skull and bifemoral traction over several days to monitor the neurologic status of the patient. Once optimal correction is achieved with the traction, a posterior instrumentation can be safely done. PMID:19626347

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

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

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

    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.

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

    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.

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

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

    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.)

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

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

    2016-01-01

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

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

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

    2014-01-01

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

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

    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

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

    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

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

    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.

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

    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.

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

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

    2007-07-01

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

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

    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.

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

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

    2014-01-01

    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...

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

    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.

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

    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

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

    Long-term study of the prevalence of congenital malformations (CM) in the population of Belarus, carried out by Belarus Institute for Hereditary Diseases, showed considerably increased, from 5.6% in 1980-1985 to 7.2% in 1986-1996, frequency of the anomalies found in embryos, increased number of malformations in induced abortuses and also the growth of CM in newborns, from 5 in 1983-1985 to 7.2 in 2001, in post-Chernobyl period. The highest raise was registered in the mostly contaminated with Cs-137 areas in the first post-Chernobyl years. There are various reasons for the observed increase, but they are still not clearly understood. Nutrition imbalance (deficit of vitamins, essential amino acids and soluble selenium), physoemotional stress, hormone imbalance, alcoholism and increased level of mutations due to additional exposure of the gonads of the residents of contaminated areas of the Republic can have some impact. Positive prevalence trend of multifactorial anomalies evidences multifactorial origin of the increased prevalence of embryonal anomalies. Both, increased prevalence of CM with great contribution of dominant mutations and the peak of Down's syndrome cases, recorded in January, 1987 with maximum in Gomel region, suggest mutation component. At present, the most efficient measures to prevent the birth of malformed children are prenatal diagnostics and vitamin supplement of the couples, who plan their pregnancy, and pregnant women in the first trimester. According to the conclusion, made by WHO experts, vitamin intake can considerably reduce many CM with multifactorial origin. Positive results can be achieved only if the problem is solved by the government, when vitamins are added to flour, cereals and bread. Prenatal diagnostics with subsequent termination of pregnancy, where incurable anomalies are found, contributes greatly to the reduction of the proportion of malformed newborns, irrespective of the factors, which caused the anomalies. Thus, in Belarus

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

    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.

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

    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

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

    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

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

    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.

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

    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

  9. Spectrum of pediatric developmental and genetic renal lesions and associated congenital malformations--an autopsy study from north India.

    Kakkar, Nandita; Menon, Santosh; Radotra, B D

    2006-01-01

    Pediatric developmental and genetic renal lesions are a known cause of mortality in the perinatal/neonatal period. These lesions are associated with a wide range of extrarenal congenital malformations that influence the outcome of the patients. In this autopsy study, we have analyzed the spectrum of pediatric developmental and genetic renal lesions and their associated congenital malformations. A total of 4,099 autopsies (20 weeks of gestation to 1 year of life) were reviewed, of which 158 cases (3.85%) of pediatric developmental (143 cases) and genetic renal lesions (15 cases) were found. Autosomal recessive polycystic kidney disease was the commonest genetic lesion. Primitive ducts with cuffing of immature mesenchyme--the sine qua non of renal dysplasia--was found in all cases of dysplasia. Associated congenital malformations were seen in all cases and thus a thorough search for them is mandatory. Ductal plate malformation was found in all cases of autosomal recessive polycystic kidney disease and in 1 case of bilateral multicystic dysplasia. PMID:16754487

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

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

    1990-01-01

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

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

    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...

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

    Helen R Griffin

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

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

    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)

  14. MR urography: Anatomical and quantitative information on congenital malformations in children

    Maria Karaveli

    2013-01-01

    Full Text Available Background and Aim: Magnetic resonance urography (MRU is considered to be the next step in uroradiology. This technique combines superb anatomical images and functional information in a single test. In this article, we aim to present the topic of MRU in children and how it has been implemented in Northern Greece so far. The purpose of this study is to demonstrate the potential of MRU in clinical practice. We focus both on the anatomical and the quantitative information this technique can offer. Materials and Methods: MRU was applied in 25 children (ages from 3 to 11 years diagnosed with different types of congenital malformations. T1 and T2 images were obtained for all patients. Dynamic, contrast-enhanced data were processed and signal intensity versus time curves were created for all patients from regions of interest (ROIs selected around the kidneys in order to yield quantitative information regarding the kidneys function. Results: From the slopes of these curves we were able to evaluate which kidneys were functional and from the corticomedullary cross-over point to determine whether the renal system was obstructed or not. Conclusion: In all 25 cases MRU was sufficient, if not superior to other imaging modalities, to establish a complete diagnosis.

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

    Aziz Eghbali

    2010-02-01

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

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

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

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

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

    2014-01-01

    OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth...... 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...

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

    Luc Malemo Kalisya

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

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

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

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

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

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

    Cakan Nedim

    2009-12-01

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

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

    Peter Agergaard

    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

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

    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.

  4. An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births.

    Baird, P A; MacDonald, E.C.

    1981-01-01

    The records of an ongoing health surveillance registry that utilizes multiple sources of ascertainment were used to study the incidence rate of congenital malformations of the anterior abdominal wall in live-born children in British Columbia during the period 1964--1978 inclusive. No overall increase in incidence rate of these anomalies was detected during the study period. The estimated live-born incidence rates were: one in 4,175 live births for omphalocoele, one in 12,328 live births for g...

  5. Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations.

    Brady, Paul D; Van Houdt, Jeroen; Callewaert, Bert; Deprest, Jan; Devriendt, Koenraad; Vermeesch, Joris R

    2014-01-01

    Using exome sequencing we identify a heterozygous nonsense mutation in ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia in 2 affected siblings. This mutation displays variable phenotypic expression being present in a third sibling with a mild diaphragmatic eventration and a cardiovascular malformation. The same variant is seen in 2 additional family members, both of whom are asymptomatic, thus highlighting that ZFPM2 haploinsufficiency is associated with reduced penetrance. Our finding adds further evidence for ZFPM2 having a role in diaphragm and cardiovascular development. PMID:24769157

  6. A clinical and experimental overview of sirenomelia: Insight into the mechanisms of congenital limb malformations

    Garrido-Allepuz, Carlos; Haro, Endika; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica; Ros, María A.

    2011-01-01

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

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

    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...

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

    Lely A. Quina

    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

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

    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

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

    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.

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

    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.

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

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

    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.)

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

    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.)

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

    Zhang Yi

    2012-07-01

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

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

    Priya Selvaraj

    2010-01-01

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

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

    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.

  17. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations.

    Pradat, P; Francannet, C; Harris, J A; Robert, E

    2003-01-01

    To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. Altogether, 12,932 infants had one or more congenital heart defects out of 4.4 million live births and stillbirths. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. As expected, definitions and ascertained conditions differed among each of the registries. The total rates for severe defects were similar (1.43 per 1,000), but differed for specific defects. Clear differences in epidemiological characteristics existed for specific defects; for example, severe cardiac defects sex ratios were significantly high for hypoplastic left heart syndrome, d-transposition of great vessels, double outlet right ventricle, total anoralous pulmonary venous return, tetralogy of Fallot, and significantly low for pulmonary atresia without ventricular septal defect and endocardial cushion defect. Few defects were similar for several epidemiological characteristics, but, for example, the combination of ventricular and atrial septal defects appeared equivalent with endocardial cushion defect under some circumstances, yet behaved differently with regard to associated noncardiovascular defects. PMID:12632215

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

    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.

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

    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

  20. Gastrointestinal malformations

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

    2007-01-01

    risk of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital......The aim of the study was to analyse the degree to which gestational age (GA) has been shortened due to prenatal diagnosis of gastrointestinal malformations (GIM). The data source for the study was 14 population-based registries of congenital malformations (EUROCAT). All liveborn infants with GIMs...

  1. Congenital biliary tract malformation resembling biliary cystadenoma in a captive juvenile African lion (Panthera leo).

    Caliendo, Valentina; Bull, Andrew C J; Stidworthy, Mark F

    2012-12-01

    A captive 3-mo-old white African lion (Panthera leo) presented with clinical signs of acute pain and a distended abdomen. Despite emergency treatment, the lion died a few hours after presentation. Postmortem examination revealed gross changes in the liver, spleen, and lungs and an anomalous cystic structure in the bile duct. Histologic examination identified severe generalized multifocal to coalescent necrotizing and neutrophilic hepatitis, neutrophilic splenitis, and mild interstitial pneumonia, consistent with bacterial septicemia. The abnormal biliary structures resembled biliary cystadenoma. However, due to the age of the animal, they were presumed to be congenital in origin. Biliary tract anomalies and cystadenomas have been reported previously in adult lions, and this case suggests that at least some of these examples may have a congenital basis. It is unclear whether the lesion was an underlying factor in the development of hepatitis. PMID:23272363

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

    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...

  3. Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

    Gregory-Evans, Cheryl Y.; Wang, Xia; Wasan, Kishor M.; Zhao, Jinying; Metcalfe, Andrew L.; Gregory-Evans, Kevin

    2013-01-01

    Aniridia is a congenital and progressive panocular condition with poor visual prognosis that is associated with brain, olfactory, and pancreatic abnormalities. Development of aniridia is linked with nonsense mutations that result in paired box 6 (PAX6) haploinsufficiency. Here, we used a mouse model of aniridia to test the hypothesis that manipulation of Pax6 dosage through a mutation-independent nonsense mutation suppression strategy would limit progressive, postnatal damage in the eye. We f...

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

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

    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

  5. Cumulative discounted expressions of sire genotypes for the complex vertebral malformation and beta-casein loci in commercial dairy herds.

    Kearney, J F; Amer, P R; Villanueva, B

    2005-12-01

    Based on discounted gene-flow principles, a set of recursive equations was developed to quantify the value of using sires with a specific genotype for an identified gene in a commercial dairy herd. Two examples were used to demonstrate the usefulness of the method. The first example deals with the implications of using sires that are known carriers of the lethal recessive genetic defect, complex vertebral malformation (CVM). The second example examines the value of using sires homozygous for the A2 allele of beta-casein. Results are presented in terms of cumulative discounted expressions. These are then multiplied by the economic values of specific genotypes to determine the cost or benefit of using these sires. In general, the degree of mortality and the required price reduction for carrier sires increased as the proportion of carrier sires used, the duration of sire use, and the initial frequency in the cow herd increased. A semen discount of 3.10 pound sterling per CVM straw used would be required to offset the expected mortality when 20% of CVM carrier sires are used for 3 yr when 5% of cows are carriers. The cumulative discounted expressions' of using sires homozygous for the A2 allele of beta-casein also increased when the proportion and duration of carrier sire use and the initial frequency of the A2 allele increased. Assuming an A2A2 cow is worth 160 pound sterling more than a non-A2A2 cow, the expected benefit of using A2A2 sires in a 100-cow herd for 5 yr would be 57 pound sterling,120 for a 20-yr planning horizon. The results of this study demonstrate how the starting gene frequency in the herd, and the proportion and duration of use of sires of particular genotypes are critical to the economic implications of using single genes in commercial dairy farms. PMID:16291634

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

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

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

    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

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

    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.

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

    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.

  10. The etiology of congenital cardiovascular malformations: observations on genetic risks with implications for further birth defects research.

    Ferencz, C

    1985-01-01

    The previously reported hypothesis of an etiologic association of heart and blood abnormalities was further investigated in a population based study of congenital cardiovascular malformations (CCVM). Three presumed genetic risk factors (CCVM in parents and siblings, heritable blood disorders and maternal mitral valve prolapse) were found to occur significantly more often in cases than in normal controls, irrespective of the presence in the proband of chromosomal or Mendelian lesions. This suggests a specific etiologic origin of the CCVM; the excess of maternal risk components raises the possibility of X-linked inheritance. Observed constellations of heart, blood, and connective tissue disorders within members of a nuclear family may indicate variability of phenotypic expression of a similar biosynthetic defect. A schematic model of abnormal cardiogenesis is presented which supports the above observations with the results of biochemical studies on endothelium, platelets and collagen disorders. It is suggested that teratogenesis results from subtle interactions of genetic sequelae with extrinsic metabolic and xenobiotic effects. This conclusion harmonizes with those derived from experimental animal studies. PMID:2937867

  11. Fetal bronchoscopy as a useful procedure in a case with prenatal diagnosis of congenital microcystic adenomatoid malformation.

    Cruz-Martinez, Rogelio; Méndez, Antonio; Perez-Garcilita, Oscar; Monroy, Araceli; Aguilar-Vidales, Karla; Cruz-Martinez, Miriam Alejandra; Martinez-Morales, Cecilia

    2015-01-01

    Massive microcystic congenital cystic adenomatoid malformation (CCAM) and bronchial atresia are associated with a high perinatal mortality secondary to lung hypoplasia and cardiac dysfunction, and fetal intervention should be considered to improve prognosis. Therapeutic options include open fetal surgery with pulmonary resection, fetal sclerotherapy and fetoscopy. We present a case with a severely enlarged left lung without ultrasound signs of dilated airways compatible with the diagnosis of microcystic CCAM, hydrops and severe contralateral lung hypoplasia that was treated successfully at 30 weeks of gestation by fetal bronchoscopy, through which bronchial atresia was identified at the end of the left mainstem bronchi and permeabilized by laser ablation. After fetal surgery, weekly follow-up showed a progressive decrease in the affected lung size and an increase in the contralateral hypoplastic lung size, demonstrating normal dimensions of both lungs at 34 weeks of gestation, reversal of the mediastinal shift, and complete disappearance of hydrops. A healthy neonate was delivered uneventfully at term with no need for respiratory support, and the boy is now doing well at 15 months of age. This report demonstrates that in cases with prenatal diagnosis of large microcystic CCAM, fetal bronchoscopy can be used to refine the diagnosis of bronchial atresia and as a therapeutic tool with good outcome. PMID:25138479

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

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

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

    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

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

    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.

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

    Nurminen, M.; Holmberg, P.C.

    1981-01-01

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

  16. 576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy.

    Zhu, Xin; Zhang, Yi; Wang, Jian; Yang, Jin-Fu; Yang, Yi-Feng; Tan, Zhi-Ping

    2013-10-10

    1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD) and other malformations with SNP-array. In a syndromic patient of the same cohort, we detected a small deletion of 1p36.33-p36.32 containing SKI (Sloan-Kettering Institute protooncoprotein). Recently, dominant mutations in SKI were identified to be correlated with Shprintzen-Goldberg syndrome. Retrospective examination revealed this patient with limb malformations, CHD, epilepsy and mild development delay. Together with previous reports, our study suggests that the 1p36.33-1p36.32 deletion encompassing SKI may represents a previous undescribed microdeletion disorder. PMID:23892090

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

    BLANCA PATRICIA BALLESTEROS DE VALDERRAMA; MÓNICA MARÍA NOVOA GÓMEZ; LILIANA MUÑOZ; FERNANDO SUÁREZ; IGNACIO ZARANTE

    2006-01-01

    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 eval...

  18. Contracted foal syndrome associated with multiple malformations in two foals.

    Binanti, D; Zani, D D; De Zani, D; Turci, T; Zavaglia, G; Riccaboni, P

    2014-02-01

    Congenital anomalies in horses are very rare, and contracted foal syndrome is one of the most commonly reported. This malformation is characterized by contraction of the joints of the forelimbs and/or hindlimbs. In addition, the syndrome can be characterized by vertebral column malformations, such as scoliosis or torticollis, and cranial deformity. The present report describes the radiological and necroscopical findings of multiple rare malformations in two foals. Both foals showed skeletal abnormalities and fenestration of the abdominal cavity. Other pathological findings include a interventricular septal defect in one and a unilateral hydronephrosis and partial hydroureter in the other foal. Although in this report a specific aetiology could not be provided, insecticides treatment provided during the second month of pregnancy might play a role in the pathogenesis of these malformations. PMID:23406278

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

    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

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

    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.

  1. Aortic arch malformations

    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.)

  2. Congenital Vascular Malformation

    ... 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, ...

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

    Mohammad K. Gandhi

    2016-04-01

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

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

    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

  5. Split Cord Malformations

    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

  6. Reconstruction of middle ear malformations

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid ...

  7. Congenital Kyphoscoliosis in Monozygotic Twins: Ten-Year Follow-up Treated by Posterior Vertebral Column Resection (PVCR): A Case Report.

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

    2016-04-01

    The etiology of congenital scoliosis and its development remains unclear and has not yet been fully identified, even there are theories that congenital scoliosis could be derived from the failure of formation or failure of segmentation, which are etiologically heterogeneous with genetic, epigenetic, and environmental factors contributing to their occurrence. We reported a case of long-term follow-up after posterior vertebral column resection (PVCR) in both identical twins with similar congenital kyphoscoliosis at thoracolumbar levels. Twin I had been noticed by his parents to have asymmetry of his back at age 5 years, but no treatment was given. Twin II was first noticed to have a spinal problem at 11 years of age by his parents. Overtime, spine of both twins became further deviated to the left with kyphosis and was referred to our hospital. Both monozygotic twins were treated by PVCR and satisfactory results were demonstrated at 10-year follow-up.This case is the first report on the surgical treatment with PVCR, almost simultaneously, in both identical twins who had similar congenital vertebral anomalies causing kyphoscoliosis. Both identical twins with congenital kyphoscoliosis had undergone surgical correction by PVCR, anterior support with a mesh cage and posterior fusion using pedicle screws at the age of 14 years and achieved a satisfactory correction and a stable spine without curve progression with 10-year follow-up. PMID:27124052

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

    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

  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

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

    Feng Wang; Hong-Fei Wu; Jie Yang

    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.

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

    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

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

    Rafael Fabiano Machado Rosa

    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

  13. A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

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

  14. Association of folate metabolism genes MTHFR and MTRR with multiple complex congenital malformation risk in Chinese population of Shanxi

    Zhang, Qin; Bai, Baoling; Liu, Xiaozhen; Miao, Chunyue; Li, Huili

    2014-01-01

    Birth defects are common, serious malformations with a complex etiology that suggests involvement of both genetic and environmental factors. Low dietary folate and polymorphisms in genes of folate metabolism can influence risk for birth defects. In the present study 250 Chinese birth defects cases who suffered 1-8 types of birth defect disease phenotypes were subjected and two genetic variants in two folate metabolism key enzymes, rs1801394 of methionine synthase reductase (MTRR) and rs180113...

  15. 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

    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

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

    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

  17. Congenital Anomalies in Infant with Congenital Hypothyroidism

    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...

  18. Epidemiology of congenital heart disease in Louisiana: an association between race and sex and the prevalence of specific cardiac malformations.

    Storch, T G; Mannick, E E

    1992-09-01

    We hypothesized that susceptibility to the genetic and environmental factors that disrupt cardiac development is associated with race and sex. To evaluate this hypothesis, we asked whether the prevalence of specific cardiac malformations differs by race and sex. We attempted to include all infants born alive in the State of Louisiana from January 1, 1988, through December 31, 1989, and diagnosed by echocardiography, catheterization and/or autopsy within a year of birth as having one of ten specific cardiac malformations. The prevalence of atrioventricular canal defects (AVCD) per 1,000 live births was significantly higher for black females (.744) compared to black males (.198) and for white females (.414) compared to white males (.116). Complete transposition of the great arteries (TGA) was significantly higher for white males (.559) compared to white females (.122); in contrast, TGA was not significantly different for black males (.198) and black females (.169). Obstructive left heart syndrome (OLHS)--aortic stenosis and/or coarctation of the aorta--was significantly higher for white males (.652) compared to white females (.317); in contrast, OLHS was not significantly different for black males (.264) and black females (.169). Single ventricle (SV) was significantly higher for whites (.202) compared to blacks (.067). We did not find that race and sex were associated with differences in the prevalence of tetralogy of Fallot and hypoplastic left heart syndrome. The numbers of infants with anomalous pulmonary venous return, tricuspid atresia, double outlet right ventricle, or truncus arteriosus were too small to measure an association with race and sex. These results demonstrate that the prevalence of a subset of cardiac malformations differs by race and sex.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1523585

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

    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

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

    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

  1. 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

    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.

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

    Shrestha, U. D.; S. Adhikari

    2015-01-01

    Craniofacial microsomia (CFM) includes a spectrum of malformations primarily involving structures derived from the first and second branchial arches. Patients with hemifacial microsomia and epibulbar dermoids are said to have Goldenhar syndrome (GHS). Four-month-old boy with whitish pupillary reflex presented with the features of GHS in pediatric ophthalmology clinic. The child had ocular and auricular manifestations. There were no vertebral anomalies, but he had bilateral congenital cataract...

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

    Cleopatra Cabrera Cuellar; Nilda B. Cortizo Martínez; Alina L. Díaz Dueñaz; Sergio Elías Molina Lamothe

    2006-01-01

    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.

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

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

    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

  5. Cerebellar Malformations and Cognitive Disdorders

    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.

  6. 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

    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. ...

  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.

    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

    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. Cerebral malformations without antenatal diagnosis

    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.)

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

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

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

    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

    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. Congenital sternoclavicular dermoid sinus.

    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  14. Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2

    Digilio, M. Cristina; McDonald-McGinn, Donna M.; Heike, Carrie; Catania, Charles; Dallapiccola, Bruno; Marino, Bruno; Zackai, Elaine H.

    2009-01-01

    We report on three unrelated patients with the 22q11.2 microdeletion syndrome (del22q11) who have phenotypic anomalies compatible with oculo-auriculo-vertebral spectrum (OAVS). Hemifacial microsomia, unilateral microtia, hearing loss, congenital heart/aortic arch arteries defects, and feeding difficulties were present in all three patients. Additional anomalies occasionally diagnosed included coloboma of the upper eyelid, microphthalmia, cerebral malformation, palatal anomalies, neonatal hypo...

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

    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

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

    Melania Maria Ramos de Amorim

    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

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

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

    2016-02-01

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

  18. Malformaciones congénitas en Chile y Latino América: Una visión epidemiológica del ECLAMC del período 1995-2008 Congenital malformations in Latin America in the period 1995-2008

    JULIO NAZER H

    2011-01-01

    Full Text Available Background: The Latin American Study of Congenital Malformations (ECLAMC hasperformed an epidemiológica! surveillance of congenital malformations since 1967. This allows to detectany unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. Aim: To report a summary ofthe results thusfar obtained in this study. Material ana Methods: The ECLAMC datábase was analyzed and all Uve births and stillbirths ofmore than 500 grams in the period 1995-2008, were analyzed. Results: There were 2,409,407 births in the nine participant countries. Ofthese 31,516 (1.3% were stillbirths. The global rate of congenital malformations in this sample was 2.7%. In the studied period, there was a significant reduction in the rates of anencephaly and spina bifida in Chile and Argentina. In the rest ofthe countries, the global rates of malformations increased. Venezuela had the higher rate of teenage pregnancies (25%, followed by Colombia (23%. Chile had the higherpercentage ofwomen aged 35years or moregiving birth (14%, followed by Uruguay (13%. However, Chile had the higher rate of Down syndrome and Uruguay, the lowest (24.7 and 13.6per 10000. Conclusions: There is a tendency towards an increase in the rates of congenital malformations in this sample, with significant differences among countries.

  19. Apuntes para la historia de las malformaciones congénitas en terneros de la región central de Cuba - Notes for the history of congenital malformations in calves of the central region of Cuba

    Rojas Lleonart, Isaías

    2011-01-01

    Full Text Available ResumenSe realizó un estudio retrospectivo sobre los hallazgos de malformaciones congénitas en terneros en la región central de Cuba a partir de los primeros años de la década del 70 hasta nuestros días.SummaryIt was carried out a retrospective study on the discoveries of congenital malformations in calves in the central region of Cuba starting from the first years of the decade of the 70’s until our days.

  20. 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

    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.

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

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

    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

  2. Congenital Anomalies in Infant with Congenital Hypothyroidism

    Zahra Razavi

    2012-09-01

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

  3. Congenital Malformations and Consequential Epidemiology

    Werler, Martha M.

    2015-01-01

    A call for a shift in the discipline of epidemiology, away from those aimed at identifying risk factors and toward those aimed at more directly improving health – so called consequential epidemiology. This call for epidemiologists to engage in solving the biggest public health problems has been heralded for decades by Cates and more recently by Galea [Am J Epidemiol 2013; 178; 1185–94]. In consideration of the consequential epidemiology perspective, the impacts of epidemiologic research of bi...

  4. 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

    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。

  5. 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

    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

  6. Abernethy malformation: a case report

    Pathak Ashish

    2012-05-01

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

  7. Supratentorial CNS malformations

    Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the

  8. Renal tract malformations: perspectives for nephrologists.

    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

  9. 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

    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

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

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

    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.)