FAMILIAL ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA

Citation
H. Thiele et al., FAMILIAL ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, American journal of medical genetics, 63(1), 1996, pp. 310-313
Citations number
7
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
63
Issue
1
Year of publication
1996
Pages
310 - 313
Database
ISI
SICI code
0148-7299(1996)63:1<310:FACAAM>2.0.ZU;2-P
Abstract
We describe two females (aunt and niece) with variable manifestations of arhinia, choanal atresia, microphthalmia, and hypertelorism. In the literature there is only one report on this syndrome in sibs. We hypo thesize autosomal dominant inheritance with reduced penetrance. (C) 19 96 Wiley-Liss, Inc.