AMERICAN JOURNAL OF MEDICAL GENETICS, cilt.62, sa.4, ss.391-397, 1996 (SCI-Expanded)
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. (C) 1996 Wiley-Liss, Inc.