Advances in osteogenesis imperfecta

Clin Orthop Relat Res. 2002 Aug;(401):6-16. doi: 10.1097/00003086-200208000-00003.


Considerable progress has been made in many aspects of osteogenesis imperfecta. The international Sillence classification of osteogenesis imperfecta is being expanded to include a greater range of subgroups of patients. Attempts are being made to identify the genes causing forms of osteogenesis imperfecta and related syndromes that are not caused by mutations of the Type I collagen genes. In medium-term studies, bisphosphonate treatment has been shown to be the first method of treatment to improve the clinical course of the disease significantly. Somatic cell therapy, using allogeneic bone marrow and mesenchymal stromal cell transplantation, are in their early phases of development for use in humans with osteogenesis imperfecta. Somatic gene therapy, which aims to inactivate the mutation, is being evaluated in laboratory and animal studies.

Publication types

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

MeSH terms

  • Collagen / genetics
  • Humans
  • Mutation
  • Osteogenesis Imperfecta* / classification
  • Osteogenesis Imperfecta* / diagnosis
  • Osteogenesis Imperfecta* / genetics
  • Osteogenesis Imperfecta* / therapy
  • Prognosis


  • Collagen