Ophthalmo-acromelic syndrome

Ann Genet. 1988;31(4):226-9.

Abstract

We report two sibships with children who had anophthalmia, multiple limb abnormalities, and consanguineous parents. The same association of malformations has already been reported. These further observations allow a better delineation of the syndrome and confirm its autosomal recessive mode of inheritance. We propose to name the syndrome ophthalmo-acromelic.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Consanguinity
  • Eye Abnormalities*
  • Humans
  • Limb Deformities, Congenital*
  • Pedigree
  • Phenotype
  • Syndrome