Anophthalmia-Waardenburg syndrome: A report of three cases


Suyugul Z., Seven M., Hacihanefioglu S., Kartal A., Suyugul N., Cenani A.

AMERICAN JOURNAL OF MEDICAL GENETICS, vol.62, no.4, pp.391-397, 1996 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 4
  • Publication Date: 1996
  • Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.391-397
  • Istanbul University Affiliated: No

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. (C) 1996 Wiley-Liss, Inc.