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

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。

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 protuberance of the elbow with limited elbow motion, and his mother had the same phenotype. X-ray examination showed calcification of the interosseous membrane and dislocation of the radial head. Genetic test showed heterozygous variation of IFITM5 gene c-14C>T located on chromosome 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.