Document Detail


Familial patent ductus arteriosus: a further case of CHAR syndrome.
MedLine Citation:
PMID:  9217229     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on a family with patent ductus arteriosus, a distinctive facial appearance with eyebrow flare, a short nose and "duck-bill lips," polydactyly, and fifth finger clinodactyly. The facial traits were consistent with CHAR syndrome. We provide further evidence for evolution of the phenotype with age and describe the previously unreported finding of interstitial polydactyly in this syndrome.
Authors:
A Slavotinek; J Clayton-Smith; M Super
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  71     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1997 Aug 
Date Detail:
Created Date:  1997-09-03     Completed Date:  1997-09-03     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  229-32     Citation Subset:  IM    
Affiliation:
Department of Clinical Genetics, St. Mary's Hospital, Manchester, United Kingdom.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*
Craniofacial Abnormalities / genetics*
Ductus Arteriosus, Patent / genetics*
Female
Genes, Dominant
Humans
Male
Pedigree
Phenotype
Polydactyly / genetics*
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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