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New dysmorphic syndrome with choanal atresia in siblings.

作者信息

Burn J, McKeown C, Wagget J, Bray R, Goodship J

机构信息

Division of Human Genetics, University of Newcastle-upon-Tyne, UK.

出版信息

Clin Dysmorphol. 1992 Jul;1(3):137-44.

PMID:1342861
Abstract

We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association.

摘要

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