脆性骨兄弟:成骨不全常规系列病例

Marsha Darmawan, Elysanti Dwi Maharani
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引用次数: 0

摘要

成骨不全症是一种遗传性结缔组织疾病,由于COL1A1/2突变导致编码胶原蛋白代谢的基因缺陷。成骨不全的骨骼表现导致骨功能不全,因此称为脆性骨病。我们在此报告3例成人IV型成骨不全。所有患者均行骨骼常规x线检查,结果均相似,均为长骨弯曲畸形,骨愈合不全,部分骨不愈合伴极端角度骨折,骨质疏松严重。成骨不全可根据骨骼结构、巩膜着色、牙本质形成和功能性代谢缺陷进行遗传分类。I型和IV型成骨不全可以活到成年;此外,在兄弟姐妹中也可以发现相同类型的成骨不全。骨骼常规x光片只能做出诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Brittle Bone Brothers: Osteogenesis Imperfecta Conventional Serial Case
Osteogenesis Imperfecta is a hereditary connective tissue disorder due to COL1A1/2 mutation causing gene defect encoding proteins to metabolize collagen. The skeletal manifestation of OI causing bone incompetence, hence the name brittle bone disease. Here we report three cases of OI type IV in adults. Skeletal conventional X-rays were performed to all patients and all of them has similar results such as bowing deformities of long bones, old union and some non-union fractures with extreme angulation and severe osteoporosis. OI are classified based on skeletal structure, sclera colorization, dentinogenesis, and functional metabolic defect genetically. OI type I and IV can live until adults; also, the same type of OI can be found in siblings. Skeletal conventional X-rays can solely make the diagnosis.
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