脆骨病伴双下肢骨折1例报告  

A case report of osteogenesis imperfecta with fracture of both lower limbs

作　　者：危涛 王勤业 徐忠良 常小波 习洪波 WEI Tao;WANG Qinye;XU Zhongliang;CHANG Xiaobo;XI Hongbo(Department of Orthopaedics,Nanxiang Hospital,Jiading District of Shanghai,Shanghai 201802,China)

机构地区：[1]上海嘉定区南翔医院骨科,上海201802

出　　处：《外科研究与新技术》2022年第3期207-209,共3页Surgical Research and New Technique

摘　　要：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.

关 键 词：脆骨病 股骨骨折 髓内钉 

分 类 号：R687.33[医药卫生—骨科学]