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, cilt.62, ss.391-397, 1996 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 62 Konu: 4
  • Basım Tarihi: 1996
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.391-397

Özet

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.