Osteogenesis imperfecta

Lancet. 2004 Apr 24;363(9418):1377-85. doi: 10.1016/S0140-6736(04)16051-0.


Osteogenesis imperfecta is a genetic disorder of increased bone fragility, low bone mass, and other connective-tissue manifestations. The most frequently used classification outlines four clinical types, which we have expanded to seven distinct types. In most patients the disorder is caused by mutations in one of the two genes encoding collagen type 1, but in some individuals no such mutations are detectable. The most important therapeutic advance is the introduction of bisphosphonate treatment for moderate to severe forms of osteogenesis imperfecta. However, at present, the best treatment regimen and the long-term outcomes of bisphosphonate therapy are unknown. Although this treatment does not constitute a cure, it is an adjunct to physiotherapy, rehabilitation, and orthopaedic care. Gene-based therapy presently remains in the early stages of preclinical research.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Bone and Bones / pathology
  • Bone and Bones / physiopathology
  • Diphosphonates / therapeutic use
  • Humans
  • Osteogenesis Imperfecta* / classification
  • Osteogenesis Imperfecta* / diagnosis
  • Osteogenesis Imperfecta* / physiopathology
  • Osteogenesis Imperfecta* / therapy


  • Diphosphonates