Brachymesomelia and Peters anomaly: a new syndrome

Am J Med Genet. 1993 Feb 15;45(4):416-9. doi: 10.1002/ajmg.1320450403.

Abstract

We report on a child with an unusual mesomelic bone dysplasia and Peters anomaly. While there is some resemblance to the radiographic findings and corneal clouding described by Pillay in the OMMD (ophthalmomandibulo-melic dysplasia) syndrome, there are also differences. The several syndromes that combine brachymesomelia and corneal clouding are discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bone Diseases, Developmental / genetics
  • Bone Diseases, Developmental / physiopathology*
  • Corneal Opacity / genetics
  • Corneal Opacity / physiopathology*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Syndrome
  • Visual Acuity / genetics