成骨不全症临床及X线诊断  

Diagnosis of the Osteogenesis Imperfecta in Clinical and X-ray

作　　者：齐燕[1] 欧陕兴[2] 钱民[2] 彭光明[2] 郭元星[2] 林伟光[2] 唐春雷[2] 杨方[2] 马红霞[2] 刘海陵[2] 

机构地区：[1]广州中医药大学 [2]广州军区广州总医院放射科,广东510010

出　　处：《临床放射学杂志》2009年第8期1130-1133,共4页Journal of Clinical Radiology

摘　　要：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 discuss the genetic, X-ray manifestations, pathology and clinical features of osteogenesis imperfecta. Materials and Methods 10 cases of osteogenesis imperfecta patients were retrospectively analyzed with clinical and X-ray findings. Results CT findings included decreased bone density, blue sclera and fractures （ in all of the cases） , hearing impairment（2 cases）, tooth agenesis（5 cases） , bregmatic fontanel failed to close（ 1 case）, growth retardation（4 cases ）, popcorn calcification （ 1 case ）, flat vertebra （ 2 cases ） , hyperthyroidism metabolism （ 8 cases ）. Conclusion In conclusion, this study suggests that Osteogenesis imperfeeta is an inherited and generalized connective tissue disorder characterized mainly by bone fragility. X-ray examinations and clinical findings play an important role in the diagnosis of Osteogenesis imperfecta.

关 键 词：成骨不全 X线征象 遗传 病理 

分 类 号：R681.1[医药卫生—骨科学] R816.8[医药卫生—外科学]