A distinct dysmorphic syndrome with congenital glaucoma and probable autosomal recessive inheritance

Ophthalmic Paediatr Genet. 1990 Mar;11(1):35-40. doi: 10.3109/13816819009012947.

Abstract

Three sisters with congenital glaucoma, peculiar facies and mild skeletal anomalies are described. It is concluded that such an aggregate of anomalies probably corresponds to a 'new' autosomal recessive syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Child
  • Facial Bones / abnormalities
  • Female
  • Fundus Oculi
  • Glaucoma / congenital*
  • Glaucoma / genetics
  • Humans
  • Iris / abnormalities
  • Radiography
  • Syndrome