摘要
目的: 探讨遗传性多发性外生骨软骨瘤 (hereditarymultipleexostosis, HME) 的临床及影像学特征, 以说明发病部位特点及规律。方法: 分析经临床诊断及病理证实的 2个HME家系。结果: 男性患者占 51. 6%, 女性患者占 48. 4%; 其临床表现有随遗传代次增加而加重的现象; 肿瘤好发部位位于长骨的干骺段, 颅面骨没有发现。结论: HME的发病率无性别差异, 其临床表现有遗传递增性, 发病部位具有选择性。该研究有利于进一步探索其发病机制及基因型与表现型的关系。
Objective:To investigate the distribution of locations of hereditary multiple exostosis(HME)by analyzing the clinical and imaging characters of the disease.Method:Two HME pedigrees which had been clinically and pathologically confirmed were studied.Result:In the 31 patients diagnozed with hereditary multiple exostosis,51.6% were male and 48.4% were female.Patients,who locate in the pedigrees of 4 th ,5 th generation,had the severest symptomatic lesions.The most common location of exostosis was juxta epiphyseal regions of the long bones.However,no exostosis was found in skull.Conclusion:There is no gender difference in the incidence of HME and the clinical phenotypes of HME are passed down more severely from generation to generation with the selective feature in the location of exostosis.The study may devote to the elucidation of the mechanism and the relationship between phenotypes and genotypes of HME.
出处
《中国矫形外科杂志》
CAS
CSCD
北大核心
2005年第3期169-172,共4页
Orthopedic Journal of China
基金
国家自然科学基金委与香港研究资助局共同联合资助的国际合作项目(3001161944)
