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Review
. 2015 Sep 7;4(F1000 Faculty Rev):681.
doi: 10.12688/f1000research.6398.1. eCollection 2015.

Recent developments in osteogenesis imperfecta

Joseph L Shaker  1 , Carolyne Albert  2 , Jessica Fritz  3 , Gerald Harris  2
Affiliations
Review

Recent developments in osteogenesis imperfecta

Joseph L Shaker et al. F1000Res. .

Abstract

Osteogenesis imperfecta (OI) is an uncommon genetic bone disease associated with brittle bones and fractures in children and adults. Although OI is most commonly associated with mutations of the genes for type I collagen, many other genes (some associated with type I collagen processing) have now been identified. The genetics of OI and advances in our understanding of the biomechanical properties of OI bone are reviewed in this article. Treatment includes physiotherapy, fall prevention, and sometimes orthopedic procedures. In this brief review, we will also discuss current understanding of pharmacologic therapies for treatment of OI.

Keywords: Osteogenesis imperfecta; mutations; recessive.

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Conflict of interest statement

Competing interests: JS is a consultant for Alexion Pharmaceuticals. The other authors declare that they have no competing interests.

References

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