Recent developments in osteogenesis imperfecta

F1000Res. 2015 Sep 7;4(F1000 Faculty Rev):681. doi: 10.12688/f1000research.6398.1. eCollection 2015.


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.

Publication types

  • Review

Grants and funding

The author(s) declared that no grants were involved in supporting this work.