Anophthalmia-Waardenburg syndrome: a report of three cases.Am J Med Genet. 1996 Apr 24; 62(4):391-7.AJ
We report on 2 Turkish families with children who had bilateral anophthalmia, upper and lower limb abnormalities, mental retardation and consanguineous parents. We have evaluated the 2 cases in the first family and the only case in the second as anophthalmia-Waardenburg syndrome. This is an extremely rare autosomal recessive syndrome.