家族性颅骨锁骨发育不全的影像学表现(附6例分析)

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。

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

Objective:To investigate the X-ray and CT manifestations of familia l cleidocranial dysplasia.Methods:The X-ray and CT findings and clinical sym ptoms in 6 cases (2 families) with cleidocranial dysplasia were analysed, and d iscussed on genetic basis.Results:The X-ray diagnostic criteria of familial cleidoc ranial dysplasia were: a bulging calvarium, patent fontanelles, wide cranial sut ures, multiple small bones between cranial sutures (multiple wormian bones), ob j ective nanrrow basia cranii,short sphenoid bone,small sphenoid sinus,obviousl y thick basia skull and changes like cotton,vague border,dental dysplasia, hyp o plasia or aplasia of clavicles, and dysostosia or aplasis of other skeleton. Conclusion: Correct diagnosis of familial cleidocranial dysplasia could be made on the basis of X-ray characteristics.