Dyssegmental dysplasia with glaucoma

Am J Med Genet. 1996 May 3;63(1):46-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<46::AID-AJMG10>3.0.CO;2-U.

Abstract

We report on a "new" syndrome in 2 unrelated children with some manifestations of Kniest dysplasia and with spine abnormalities suggestive of dyssegmental dysplasia. Glaucoma with important ocular impairment was associated with severe dwarfism. No mutation of the COL2A1 gene was detected. The inheritance of this new type of skeletal dysplasia in unknown.

Publication types

  • Case Reports

MeSH terms

  • Collagen / genetics
  • Dwarfism / diagnosis
  • Dwarfism / diagnostic imaging
  • Female
  • Glaucoma / diagnosis*
  • Glaucoma / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics
  • Radiography
  • Spine / abnormalities
  • Spine / diagnostic imaging
  • Syndrome

Substances

  • Collagen