Familial arhinia, choanal atresia, and microphthalmia.

Am J Med Genet

Institut of Human Genetics, University of Halle/Wittenberg, Germany.

Published: May 1996

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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http://dx.doi.org/10.1002/(SICI)1096-8628(19960503)63:1<310::AID-AJMG51>3.0.CO;2-NDOI Listing

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