Objective:To investigate the craniofacial features in patients with cleidocranial dysplasia (CCD).Methods:The facial features,cervical vertebral bone age and skeletal abnormalities of 8 patients with CCD were studied by analyzing facial photos,cephalo-metric and panoramic radiographs.Results:4 patients were in the early growth stage and the other 4 in the late period of development. The bossing forehead and inclined eye fissure were observed in all patients,but underdevelopment of midfaces were not obviously pres-ented in younger patients.Morphological abnormalities of craniofacial bones,such as ascending ramus,coronoid process,nasal bones and disappearence of gonial angle were observed in all patients.Conclusion:Some craniofacial malformations in patients with CCD may be presented earlier than underdeveloped midface,which can be helpful for early diagnosis of CCD.%目的：分析锁骨颅骨发育不良综合征（CCD）患者的颅面部特征，为临床早期诊断提供参考。方法：收集8例 CCD 患者的临床资料，依据正畸临床常规拍摄的面像、头颅定位侧位片、全口曲面断层片分别分析患者的面部特征、颈椎骨龄、以及颌面骨骼特征。结果：4例患者处于生长发育高峰前期或高峰期，4例患者的生长发育基本完成。所有患者面部特征表现：前额部隆起、眼裂倾斜；面中发育不足、面下高度比例不调仅在生长发育完成的患者中明显表现。颌面骨骼特征分析显示：所有患者的喙突指向上方／后上方，下颌升支前后缘接近平行，下颌角不同程度缺失；额骨隆起，枕骨出现沃姆氏骨，颅底蝶鞍部后凸。结论：CCD 患者具有特殊的面容，鼻部、眼部、额部等部位的异常在面中发育不足的特征明显出现前已有所表现，这有助于CCD 患者的早期诊断。
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