Recent developments in osteogenesis imperfecta. F1000Res 2015;4(F1000 Faculty Rev):681
Date
09/25/2015Pubmed ID
26401268Pubmed Central ID
PMC4566283DOI
10.12688/f1000research.6398.1Scopus ID
2-s2.0-84942134795 (requires institutional sign-in at Scopus site) 47 CitationsAbstract
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.
Author List
Shaker JL, Albert C, Fritz J, Harris GAuthors
Jessica M. Fritz PhD Associate Professor in the Orthopaedic Surgery department at Medical College of WisconsinGerald Harris PhD Director in the Orthopaedic Research Engineering Center (OREC) department at Marquette University
Joseph L. Shaker MD Professor in the Medicine department at Medical College of Wisconsin
