家族性颅骨锁骨发育不全的影像学表现(附6例分析)

The imaging manifestations of familial cleidocranial dysplasia(analysis 6 cases)

目的探讨家族性锁骨颅骨发育不全的X线及CT表现特征。方法分析6例(2个家庭)锁骨颅骨发育不全的临床、X线及CT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线及CT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、颅底相对较窄,蝶骨短、蝶窦小,颅底骨明显增厚,并呈棉花团状改变,边缘模糊、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线及CT表现具有特征性,能够作出正确的诊断。

Objective： To investigate the X-ray and CT mataifestations of familial cleidocranial dysplasia. Methods：The X-ray and CT findings and clinical symptolns in 6 eases （2 families） with eleidocranial dysplasia were analysed, and discussed on genetic basis. Resalts： 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）, objective nanrrow basia cranii, short sphenoid bone, small sphenoid sinus, obviously thick basia skull and changes like cotton, vague border, dental dysplasia, hypoplasia or aplasia of clavicles, and dysostusia or aplasis of other skeleton. Conclusion：Correct diagnosis of familial cleidocrarnial dysplasia could be made on the basis of X-ray characterisics.