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.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.1320140403DOI Listing

Publication Analysis

Top Keywords

autosomal recessive
8
anophthalmia multiple
8
multiple congenital
8
clinical report
4
report autosomal
4
recessive anophthalmia
4
congenital abnormalities--type
4
abnormalities--type waardenburg
4
waardenburg report
4
report brazilian
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!