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.
出处
《临床放射学杂志》
CSCD
北大核心
2009年第8期1130-1133,共4页
Journal of Clinical Radiology
关键词
成骨不全
X线征象
遗传
病理
Osteogenesis imperfecta X-ray manifestations Genetic Pathology
