title: Osteogenesis imperfecta.
abstract: 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.
authors.affiliation: Genetics Unit, Shriners Hospital for Children, 1529 Cedar Avenue, McGill University, Montréal, Québec, Canada H3G 1A6. glorieux@shriners.mcgill.ca
authors.forename: Francis H
authors.initials: FH
authors.lastname: Glorieux
mesh_terms: D050071:Bone Density Conservation Agents / Q000008:administration & dosage; D003937:Diagnosis, Differential; D004164:Diphosphonates / Q000008:administration & dosage / Q000627:therapeutic use; D006801:Humans; D007085:Ilium / Q000473:pathology; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000175:diagnosis / Q000188:drug therapy / Q000473:pathology; D000077268:Pamidronate
chemical_list: D050071:Bone Density Conservation Agents; D004164:Diphosphonates; D000077268:Pamidronate