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. [
出处
《中国医学影像技术》
CSCD
北大核心
1999年第6期409-411,共3页
Chinese Journal of Medical Imaging Technology
关键词
锁骨
颅骨
发育不全
遗传学
X线
Cleidocranial
dysplasia Genetics Radiography
