Desbuquois syndrome

Eur J Pediatr. 1991 Sep;150(11):793-6. doi: 10.1007/BF02026714.

Abstract

Three patients with short stature, joint laxity, and peculiar pelvic radiology are described. The first case is similar to those described by Desbuquois et al., with deviation of digitis and supernumerary metacarpal bones. The other two children are less severely affected and are compared with others reported in literature. The authors suggest the homogeneity of the Desbuquois syndrome in spite of the variability of expression.

Publication types

  • Case Reports

MeSH terms

  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Child
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics*
  • Female
  • Hand / diagnostic imaging
  • Hip Joint / diagnostic imaging
  • Humans
  • Infant
  • Joint Dislocations / diagnostic imaging
  • Joint Dislocations / genetics*
  • Joint Instability / diagnostic imaging
  • Joint Instability / genetics*
  • Knee Joint / diagnostic imaging
  • Male
  • Phenotype
  • Radiography
  • Syndrome