A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg

Prenat Diagn. 2002 May;22(5):395-7. doi: 10.1002/pd.331.

Abstract

Ophthalmo-acromelic syndrome type Waardenburg is an extremely rare autosomal recessive syndrome comprising eye malformations ranging from true anophthalmia to mild microphthalmia with acromelic malformations. We report a case of ophthalmo-acromelic syndrome type Waardenburg diagnosed prenatally.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Consanguinity
  • Fatal Outcome
  • Female
  • Humans
  • Pregnancy
  • Respiratory Insufficiency
  • Ultrasonography, Prenatal*
  • Waardenburg Syndrome / diagnostic imaging
  • Waardenburg Syndrome / pathology*