脆骨病又称成骨不全或脆骨–蓝巩膜–耳聋综合征,是一种由于间充质组织发育不全,胶原形成障碍而造成的先天性遗传性疾病。临床上主要的诊断标准为：（1）巩膜呈蓝色;（2）骨质疏松及骨骼的脆性增加;（3）牙质发育不全;（4）早期听力丧失;上述有2项就能确诊。目前尚无针对脆骨病致病基因突变的有效治疗方法,现有治疗仅为对症治疗, 旨在增加患者的骨密度、降低骨折率、改善骨畸形、提高生活质量。

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.