Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 85-100, March 2008

Osteogenesis imperfecta

  • Francis H. Glorieux (Professor of Surgery, Pediatrics and Human Genetics)

      Affiliations

    • Corresponding Author InformationTel.: +1 514 842 5964; Fax: +1 514 842 5581.

Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, McGill University, Montréal, Québec, Canada H3G 1A6

Osteogenesis Imperfecta is a heritable disorder characterized by bone fragility and low bone mass, with a wide spectrum of clinical expression. This review gives an update on its classification, the recent developments in the understanding of its pathophysiological mechanisms, and the current status of bisphosphonate therapy. Other therapeutic approaches and future directions of research are briefly discussed.

Key words: osteoporosis, bisphosphonates, type I collagen, osteogenesis imperfecta

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PII: S1521-6942(07)00145-3

doi:10.1016/j.berh.2007.12.012

Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 85-100, March 2008

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