成骨不全家系分析并文献复习

Analysis and Literature Review of Osteogenesis Imperfect in A Family

成骨不全症是以骨脆弱和骨畸形为临床特征的常染色体显性或隐性遗传缺陷的结缔组织病,临床罕见,根据主要临床表现和影像学结果来确诊。现发现成骨不全症家系一例,面对基因学和细胞学正在不断深入的研究,笔者以此家系为基础,对其发病机制、诊断、治疗及康复等问题予以阐述并文献复习。

Osteogenesis Imperfecta（OI） is a kind of autosomal dominant or recessive hereditary connective tissue disease and its clinical features are bone fragility and bone deformities.It is very rare in clinic.According to the main clinical symptoms and radiographic results,we found a pedigree with OI.The research in genetics and cytology being more and more thorough,the authors took this pedigree as the foundation and discussed its pathogenesis,diagnosis,treatment and rehabilitation problems.In addition,the relevant literature was reviewed as well.