Waardenburg's recessive anophthalmia syndrome.
A family with a rare form of autosomal recessive anophthalmia, syndactyly and multiple congenital deformities is reported. The authors propose that this be recognized as a well defined autosomal recessive syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D000022:Abortion, Spontaneous; D000853:Anophthalmos / Q000000981:diagnostic imaging / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011859:Radiography; D013577:Syndrome