Autosomal recessive anophthalmia with multiple congenital abnormalities—type Waardenburg
- 1 April 1983
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 14 (4) , 607-615
- https://doi.org/10.1002/ajmg.1320140403
Abstract
We report two Brazilian families with children who had anophthalmia and multiple congenital abnormalities and consanguineous parents. Among the five affected children, four had bilateral and one had unilateral anophthalmia. Autosomal recessive inheritance is demonstrated.Keywords
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