V型成骨不全:1例报告与文献综述

Osteogenesis imperfecta type V: a case report and literature review

摘要:

成骨不全是一种以骨脆性增加、反复骨折、骨骼畸形等为主要临床特征的遗传性骨代谢障碍性疾病。本文报道 1 例 V 型成骨不全患儿，临床表现为双侧肘部骨性突起，双肘关节活动受限，其母亲有同样表型。X 线片检查骨间膜钙化并桡骨头脱位，基因检测结果显示定位于 11 号染色体上的 IFITM5 基因 c.-14 C＞T 存在杂合变异，为已报道的致病性变异，遗传自母亲。本文通过文献回顾，着重介绍 V 型成骨不全发病机理、临床表现、影像学特点以及治疗方法。

Abstract:

Osteogenesis imperfection is a genetic bone metabolic disorder characterized by increased bone fragility, repeated fracture and bone deformity. In this paper, we reported a case of osteogenesis imperfecta type V. The patient presented were bilateral bony protuber- ance of the elbow with limited elbow motion, and his mother had the same phenotype. X-ray examination showed calcification of the interos- seous membrane and dislocation of the radial head. Genetic test showed heterozygous variation of IFITM5 gene c-14C＞T located on chromo- some 11, which was reported as a pathogenic variation and inherited from his mother. By reviewing the literature, this article will introduce the pathogenesis, clinical manifestations, imaging features and treatment of osteogenesis imperfection type V.