Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg.
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000853:Anophthalmos / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D005532:Foot Deformities, Congenital; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D014849:Waardenburg Syndrome / Q000235:genetics*