Familial patent ductus arteriosus: A further case of CHAR syndrome

Autor:	Anne Slavotinek, Maurice Super, Jill Clayton-Smith
Rok vydání:	1997
Předmět:	CHAR SYNDROME Polydactyly business.industry fungi Eyebrow Dysostosis Anatomy medicine.disease Fifth finger clinodactyly stomatognathic diseases Facial appearance medicine.anatomical_structure Ductus arteriosus Short nose medicine business Genetics (clinical)
Zdroj:	American Journal of Medical Genetics. 71:229-232
ISSN:	1096-8628 0148-7299
Popis:	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. Am. J. Med. Genet. 71:229–232, 1997. © 1997 Wiley-Liss, Inc.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::3b53a0d122d4e0b4572c108f3c3569b0 https://doi.org/10.1002/(sici)1096-8628(19970808)71:2<229::aid-ajmg22>3.0.co Zobrazit plný text záznamu Plný text