Familial patent ductus arteriosus: a further case of CHAR syndrome.
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.
Slavotinek
A
A
Department of Clinical Genetics, St. Mary's Hospital, Manchester, United Kingdom.
Clayton-Smith
J
J
Super
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics*; D013577:Syndrome