Anophthalmia-Waardenburg syndrome: a report of three cases

Am J Med Genet. 1996 Apr 24;62(4):391-7. doi: 10.1002/(SICI)1096-8628(19960424)62:4<391::AID-AJMG12>3.0.CO;2-J.

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.

Publication types

  • Case Reports

MeSH terms

  • Anophthalmos / diagnostic imaging
  • Anophthalmos / genetics*
  • Anophthalmos / physiopathology
  • Child
  • Child, Preschool
  • Female
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics
  • Humans
  • Intellectual Disability / genetics
  • Male
  • Orbit / abnormalities
  • Orbit / diagnostic imaging
  • Pedigree
  • Radiography
  • Tomography Scanners, X-Ray Computed
  • Waardenburg Syndrome / diagnostic imaging
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / physiopathology