华西口腔医学杂志

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颅锁骨发育不全综合征2例病例报告及特征分析

姜涛 蒋序 张运奎   

  1. 济南市口腔医院  修复科, 济南 250001
  • 出版日期:2013-02-01 发布日期:2013-02-01
  • 通讯作者: 张运奎,Tel:0531-86261671
  • 作者简介:姜涛(1976—),男,山东人,主治医师,硕士

Cleidocranial dysplasia: Two cases report and signature analysis

Jiang Tao, Jiang Xu, Zhang Yunkui   

  1. Dept. of Prosthodontics, Jinan Stomatological Hospital, Jinan 250001, China
  • Online:2013-02-01 Published:2013-02-01

摘要:

本文对一颅锁骨发育不全综合征(CCD)家系(2例病例)的发病特点进行报道。采用先证者查证法对家系各成员进行全身健康状况及口腔专科检查,检查表明CCD患者表现有不同程度的颅骨、牙齿、锁骨发育障碍。

关键词: 颅锁骨发育不全综合征, 常染色体显性遗传, 突变

Abstract:

Two cases of cleidocranial dysplasia(CCD) were reported and the characteristics of CCD were analyzed. The propositus verification method was used to family members for general health and oral specialized examination. All patients expressed developmental abnormality of crania, teeth and clavicle.

Key words: cleidocranial dysplasia, autosomal dominant inheritance, mutation