Long-term outcome in Desbuquois dysplasia: a follow-up in four adult patients

Am J Med Genet A. 2004 Jan 1;124A(1):54-9. doi: 10.1002/ajmg.a.20441.


Desbuquois dysplasia is a rare chondrodysplasia characterized by short stature, joint laxity, and specific radiographic findings. We report the natural history of four patients (three boys and one girl) with Desbuquois dysplasia ages 16-22 years. The mean height in adulthood was 114 cm (-8.5 SD) with progressive deceleration of the growth curve from birth (-4 SD) to adulthood. Obesity was noted consistently and facial abnormalities were still present but less obvious than in childhood. Three of four patients had mental retardation of varying degree. Hyperlaxity was persistent but limited motion of various joints was also noted. Orthopedic complications included coxa vara or valga (3/4), scoliosis (3/4), marked lordosis (3/4), and ambulatory difficulties (3/4). Surgical treatment was necessary for all four patients, involving large joints, spine and hands. Other complications included acute open-angle glaucoma secondary to a congenital malformation of the angle in one case. In addition to consistent radiological findings, elevated greater trochanter, generalized osteoporosis especially of the spine, scoliosis and/or lordosis, wide metaphyses, flat epiphyses, and coxa vara or valga were part of the natural history of the disorder. Our study emphasizes the care of older patients with Desbuquois dysplasia.

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology*
  • Adolescent
  • Adult
  • Body Height
  • Face / abnormalities
  • Female
  • Femur / abnormalities
  • Follow-Up Studies
  • Humans
  • Intellectual Disability / etiology
  • Joint Instability
  • Male
  • Musculoskeletal Diseases / etiology
  • Musculoskeletal Diseases / pathology
  • Obesity
  • Osteochondrodysplasias / complications
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology*
  • Prognosis