摘要
目的 探讨家族性石骨症的遗传、临床及X线表现特点。方法 对 5 9例石骨症患者临床资料作回顾性总结分析。结果 在家族性病例中以恶性型 (幼儿型 )居多 ,多在Ⅰ、Ⅱ代发病 ,偶见连续三代发病者。散发型中则以良性型 (成人型 )为主。X线表现以骨质硬化 ,髓腔闭塞为基本特征 ,椎体“夹心征”及髂骨“同心圆征”为其特征性表现。结论 临床工作中要注重对石骨症患者进行家系调查 ,尤其对有遗传倾向者 ,有必要在胎儿期进行检测。
Objective To investigate the features of genetic and clinical manifestation of osteopetrosis. Methods The clinical data of 59 cases of osteopetrosis were analyzed retrospectively. Results Malignant patients were major in hereditary cases, especially in the 2nd, 3rd generation, incidentally in continuous three generations. Benign patients were major in sporadic cases. The basic X ray manifestations were bone sclerosis and bone cavity occlusion, the characteristics were 'filling with filling' in centrum and 'homocentric circle' in ilium. Conclusion During the clinical work, we should emphasize the patient's family history, especially in hereditary patients, the examination of fetus is necessary.
出处
《中国医学影像技术》
CSCD
2004年第5期763-765,共3页
Chinese Journal of Medical Imaging Technology
关键词
石骨症
临床
X线征象
遗传
Osteopetrosis
Clinic
X-ray manifestation
Genetic
