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Familial patent ductus arteriosus: a further case of CHAR syndrome.

作者信息

Slavotinek A, Clayton-Smith J, Super M

机构信息

Department of Clinical Genetics, St. Mary's Hospital, Manchester, United Kingdom.

出版信息

Am J Med Genet. 1997 Aug 8;71(2):229-32.

PMID:9217229
Abstract

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.

摘要

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