Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy

Am J Med Genet. 1996 May 3;63(1):17-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<17::AID-AJMG6>3.0.CO;2-P.

Abstract

Stüve-Wiedemann osteochondrodysplasia is a rare disorder with distinct clinical and diagnostic radiographic findings. The condition is classified as a bent-bone dysplasia with early, lethal outcome. We report on a boy with Stüve-Wiedemann syndrome who is well and alive at the age of 3 1/2 years.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / diagnostic imaging*
  • Child
  • Femur / diagnostic imaging
  • Humans
  • Male
  • Osteochondrodysplasias / diagnostic imaging*
  • Osteochondrodysplasias / genetics
  • Radiography
  • Radius / diagnostic imaging
  • Scoliosis / diagnostic imaging
  • Syndrome
  • Ulna / diagnostic imaging