Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2004 Apr 24;363(9418):1377-85.
doi: 10.1016/S0140-6736(04)16051-0.

Osteogenesis imperfecta

Affiliations
Review

Osteogenesis imperfecta

Frank Rauch et al. Lancet. .

Abstract

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.

PubMed Disclaimer

Similar articles

  • [Osteogenesis imperfecta].
    Forin V. Forin V. Presse Med. 2007 Dec;36(12 Pt 2):1787-93. doi: 10.1016/j.lpm.2007.01.043. Epub 2007 Jun 8. Presse Med. 2007. PMID: 17560761 Review. French.
  • Update on the evaluation and treatment of osteogenesis imperfecta.
    Harrington J, Sochett E, Howard A. Harrington J, et al. Pediatr Clin North Am. 2014 Dec;61(6):1243-57. doi: 10.1016/j.pcl.2014.08.010. Epub 2014 Sep 22. Pediatr Clin North Am. 2014. PMID: 25439022 Review.
  • Osteogenesis imperfecta, current and future medical treatment.
    Rauch F, Glorieux FH. Rauch F, et al. Am J Med Genet C Semin Med Genet. 2005 Nov 15;139C(1):31-7. doi: 10.1002/ajmg.c.30072. Am J Med Genet C Semin Med Genet. 2005. PMID: 16278881
  • Osteogenesis imperfecta.
    Glorieux FH. Glorieux FH. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):85-100. doi: 10.1016/j.berh.2007.12.012. Best Pract Res Clin Rheumatol. 2008. PMID: 18328983 Review.
  • Osteogenesis imperfecta.
    Huber MA. Huber MA. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Mar;103(3):314-20. doi: 10.1016/j.tripleo.2006.10.003. Epub 2007 Jan 12. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007. PMID: 17223585

Cited by

Publication types

MeSH terms

LinkOut - more resources