| The velo-cardio-facial syndrome: a clinical and genetic analysis. | |
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MedLine Citation:
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PMID: 7243439 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Thirty-nine patients with the velo-cardio-facial syndrome are described in order to further delineate this probably common recurrent pattern congenital malformation syndrome. Frequent features include cleft palate, cardiac anomalies, typical facies, and learning disabilities. Less frequent findings include microcephaly, mental retardation, small stature, slender hands and digits, minor auricular anomalies and inguinal hernia. Ths Robin malformation sequence was found in four patients. The congenital heart anomalies most frequently involved a ventricular septal defect, with or without a right-sided aortic arch. There were four instances of familial transmission in the sample population. These included two cases of maternal transmission of the syndrome to daughters, one case of maternal transmission to a son, and one case of maternal transmission to both a son and daughter. There was no particular difference in expression between male and female patients so that even though X-linked dominant transmission is possible, the velo-cardio-facial syndrome is likely to be an autosomal dominant recurrent pattern syndrome. |
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Authors:
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R J Shprintzen; R B Goldberg; D Young; L Wolford |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatrics Volume: 67 ISSN: 0031-4005 ISO Abbreviation: Pediatrics Publication Date: 1981 Feb |
Date Detail:
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Created Date: 1981-08-20 Completed Date: 1981-08-20 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0376422 Medline TA: Pediatrics Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 167-72 Citation Subset: AIM; IM |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Cleft Palate / diagnosis, genetics* Face* Growth Disorders / diagnosis, genetics Hearing Loss, Conductive / diagnosis, genetics Heart Defects, Congenital / diagnosis, genetics* Humans Learning Disorders / diagnosis, genetics Pierre Robin Syndrome / complications Syndrome |
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