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  • Title: Anophthalmia-Waardenburg syndrome: a report of three cases.
    Author: Suyugül Z, Seven M, Hacihanefioğlu S, Kartal A, Suyugül N, Cenani A.
    Journal: Am J Med Genet; 1996 Apr 24; 62(4):391-7. PubMed ID: 8723070.
    Abstract:
    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.
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