Hadju-Cheney syndrome: response to therapy with bisphosphonates in two patients

J Bone Miner Res. 2003 Jan;18(1):131-3. doi: 10.1359/jbmr.2003.18.1.131.


Hadju-Cheney syndrome is characterized by short stature, distinctive facies, and a slowly progressive skeletal dysplasia including acro-osteolysis. Autosomal dominant inheritance is typical, but the genetic defect and molecular pathogenesis of the syndrome are unknown. Osteoporosis with atraumatic fracture is a frequent finding, and previous studies have documented biochemical and morphometric evidence of high bone turnover. Here, we report the clinical details and response to therapy with bisphosphonates in two patients (mother and son) with Hadju-Cheney syndrome and postulate that osteoclast-mediated bone resorption is important in the generalized osteoporosis commonly associated with this condition.

Publication types

  • Case Reports

MeSH terms

  • Acro-Osteolysis / drug therapy*
  • Acro-Osteolysis / genetics
  • Acro-Osteolysis / metabolism
  • Adult
  • Alendronate / therapeutic use*
  • Bone Density / drug effects
  • Bone Diseases, Developmental / drug therapy*
  • Bone Diseases, Developmental / genetics
  • Bone Diseases, Developmental / metabolism
  • Bone Resorption / drug therapy
  • Female
  • Fractures, Bone / prevention & control
  • Humans
  • Male
  • Middle Aged
  • Osteoporosis / drug therapy
  • Osteoporosis / genetics
  • Osteoporosis / metabolism
  • Pedigree
  • Phenotype
  • Syndrome


  • Alendronate