title: Recent developments in osteogenesis imperfecta.
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.
authors.affiliation: Endocrinology, Medical College of Wisconsin, Milwaukee, WI, USA.
authors.forename: Joseph L
authors.initials: JL
authors.lastname: Shaker
authors.affiliation: Orthopaedic and Rehabilitation Engineering Center, Marquette University and Medical College of Wisconsin, Milwaukee, WI, USA ; Shriners Hospitals for Children, Chicago, IL, USA.
authors.forename: Carolyne
authors.initials: C
authors.lastname: Albert
authors.affiliation: Orthopaedic and Rehabilitation Engineering Center, Marquette University and Medical College of Wisconsin, Milwaukee, WI, USA.
authors.forename: Jessica
authors.initials: J
authors.lastname: Fritz
authors.affiliation: Orthopaedic and Rehabilitation Engineering Center, Marquette University and Medical College of Wisconsin, Milwaukee, WI, USA ; Shriners Hospitals for Children, Chicago, IL, USA.
authors.forename: Gerald
authors.initials: G
authors.lastname: Harris
keywords: Osteogenesis imperfecta; mutations; recessive