| 刘军,刘进,陈炜,陈志刚,范光忠,陆庭斌.家族性锁骨颅骨发育不全的遗传学基础和临床X线研究[J].中国医学影像技术,1999,15(6):409~411 |
| 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 |
| 投稿时间：1998-11-05 |
| DOI： |
| 中文关键词: 锁骨颅骨发育不全 遗传学 放射摄影术 |
| 英文关键词:Cleidocranial dysplasia Genetics Radiography |
| 基金项目: |
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| 中文摘要: |
| 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。 |
| 英文摘要: |
| 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. |
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