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目的探讨成骨不全症的遗传、病理学、临床及影像学表现。资料与方法回顾性分析10例成骨不全症患者的临床及X线表现。结果10例均有骨质密度减低、蓝色巩膜及骨折,听力障碍2例,牙齿发育不全5例,前囟未闭1例,发育迟缓4例,“爆米花”样钙化1例,椎体变扁2例,代谢亢进8例。结论成骨不全症是常染色体显性或隐性遗传缺陷性结缔组织病,临床及X线检查对其诊断有着十分重要的价值。
Objective To investigate the genetic, pathological, clinical and imaging findings of osteogenesis imperfecta. Materials and Methods Retrospective analysis of 10 cases of osteogenesis imperfecta in patients with clinical and X-ray findings. Results All 10 cases had decreased bone density, blue sclera and fracture, 2 hearing impairment, 5 cases of dental hypoplasia, 1 case of anterior fontanel, 4 cases of delayed development, 1 case of “popcorn” calcification, 2 cases of vertebral body flattening, hyperthyroidism in 8 cases. Conclusion Osteogenesis imperfecta is an autosomal dominant or recessive genetic defective connective tissue disease. Clinical and X-ray examination is of great value to the diagnosis.