关键词: 脆骨病, 股骨骨折, 髓内钉

Abstract: Osteogenesis imperfecta, also known as brittle bone-blue sclera-deafness syndrome, is a congenital genetic disease caused by mesenchymal tissue hypoplasia and collagen formation disorder. The main clinical diagnostic criteria are： （1） blue sclera; （2） osteoporosis and increased bone fragility; （3） dentin hypoplasia; （4） early hearing loss. A diagnosis is made when two of the above criteria are met. At present, there is no effective treatment for the pathogenic gene mutation of osteogenesis imperfecta. The existing treatment is only symptomatic treatment, aiming to increase bone density, reduce fracture rate, correct bone deformity, and improve the quality of life of the patients.

Key words: Osteogenesis imperfecta, Femoral fracture, Intramedullary nail