Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis

Am J Med Genet. 1994 Jul 1;51(3):216-21. doi: 10.1002/ajmg.1320510308.

Abstract

We present two children with Desbuquois syndrome and characteristic facial appearance, and musculoskeletal and radiological findings. Two new complications of this syndrome are obstructive sleep apnea and severe cervical kyphosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Cervical Vertebrae / abnormalities
  • Dwarfism / complications*
  • Dwarfism / congenital
  • Facial Expression
  • Female
  • Genes, Recessive
  • Humans
  • Infant
  • Infant, Newborn
  • Joint Instability / complications
  • Kyphosis / etiology*
  • Osteochondrodysplasias / complications*
  • Sleep Apnea Syndromes / etiology*
  • Syndrome