Recent progress in osteogenesis imperfecta.
Osteogenesis imperfecta (OI), a rare clinical disease with abnormal type I collagen, is inherited or caused by mutation. A classification of OI into four types was proposed in 1979 and has been used up until four new types were added recently. A tough clinical challenge, OI causes abnormal blood coagulation and cardiovascular structure, airways obstruction, and delayed wound healing. The authors of the current article have reviewed recent progress in OI worldwide, including the mechanisms, classification, detection, clinical difficulties, and treatment.
Department of Orthopaedic Surgery, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Xiang
X
Zhao
Shi-Gui
SG
Yan
D000402:Airway Obstruction / Q000209:etiology; D001778:Blood Coagulation Disorders / Q000209:etiology; D050071:Bone Density Conservation Agents / Q000627:therapeutic use; D001915:Braces; D002318:Cardiovascular Diseases / Q000209:etiology; D024042:Collagen Type I / Q000235:genetics; D004164:Diphosphonates / Q000627:therapeutic use; D004967:Estrogens / Q000627:therapeutic use; D005260:Female; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D033581:Stem Cell Transplantation
D050071:Bone Density Conservation Agents; D024042:Collagen Type I; D004164:Diphosphonates; D004967:Estrogens