V型成骨不全:1例报告与文献综述
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1.济南市儿童医院;2.北京儿童医院

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0steogenesis imperfecta type V : a case report and literature review
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1.Qilu Children'2.'3.s Hospital of Shandong University;4.beijing children'5.s hospital;6.Qilu Children&7.amp;8.#39;9.&

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    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. We reported a case of osteogenesis imperfecta type V , the clinical manifestations of the child were bilateral bony protuberance of the elbow and limited movement of the elbow joint, and his mother had the same phenotype. X-ray examination showed calcification of the interosseous membrane and dislocation of the radial head. Genetic test results showed heterozygous variation of IFITM5 gene C.-14C > T located on chromosome 11, inherited from his mother, which was reported as a pathogenic variation. By reviewing the literature, this article will introduce the pathogenesis, clinical manifestations, imaging features and treatment of osteogenesis imperfection type V.

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  • 收稿日期:2021-10-13
  • 最后修改日期:2022-02-24
  • 录用日期:2022-04-14
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