家族性锁骨颅骨发育不全的遗传学基础和临床X线研究  

The Genetic Bases, Clinic and X ray Investigation of Familial Cleidocranial Dysplasia

作　　者：刘军[1,2,3,4,5] 刘进 陈炜 陈志刚[1,2,3,4,5] 范光忠[1,2,3,4,5] 陆庭斌 

机构地区：[1]西安医科大学第一附属医院放射科 [2]宝鸡市石油医院 [3]西安外国语学院校医院 [4]解放军第三二三医院 [5]陕西电子医院

出　　处：《中国医学影像技术》1999年第6期409-411,共3页Chinese Journal of Medical Imaging Technology

摘　　要：目的提出家族性锁骨颅骨发育不全的Ｘ线诊断要点。方法分析８例（４个家庭）锁骨颅骨发育不全的临床及Ｘ线表现，并从遗传学角度进行探讨。结果家族性锁骨颅骨发育不全的Ｘ线表现主要为：颅顶膨隆或下陷、囟门未闭、颅缝增宽、多发缝间骨、牙齿发育不良、锁骨发育不全或缺如、全身骨骼发育不全。结论家族性锁骨颅骨发育不全的Ｘ线表现具有特征性，能够作出正确的诊断。Purpose To propose X ray diagnostic criteria of familial cleidocranial dysplasia.Methods The X ray findings and clinical symptoms in 8 cases (4 families) with cleidocranial dysplasia were analysed, and discussed on genetic basis. Results The X ray diagnostic criteria of familial cleidocranial dysplasia were: a bulging calvarium, patent fontanelles, wide cranial sutures, multiple small bones between cranial sutures (multiple Wormian bones), dental dysplasia hypoplasia or aplasia of clavicles, and dysostosia or aplasia of other skeleton.Conclusion Correct diagnosis of familial cleidocranial dysplasia could be made on the basis of X ray characteristics. [

关 键 词：锁骨 颅骨 发育不全 遗传学 X线 

分 类 号：R681.104[医药卫生—骨科学] R816.8[医药卫生—外科学]