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Familial patent ductus arteriosus: A further case of CHAR syndrome

✍ Scribed by Slavotinek, Anne; Clayton-Smith, Jill; Super, Maurice

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 21 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970808)71:2<229::aid-ajmg22>3.0.co;2-f

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✦ Synopsis

We report on a family with patent ductus arteriosus, a distinctive facial appearance with eyebrow flare, a short nose and ''duckbill 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.

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