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Review
. 1996 May 3;63(1):310-3.
doi: 10.1002/(SICI)1096-8628(19960503)63:1<310::AID-AJMG51>3.0.CO;2-N.

Familial arhinia, choanal atresia, and microphthalmia

H Thiele  1 , A Musil, F Nagel, F Majewski
Affiliations
Review

Familial arhinia, choanal atresia, and microphthalmia

H Thiele et al. Am J Med Genet. .

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 hypothesize autosomal dominant inheritance with reduced penetrance.

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