华西口腔医学杂志 ›› 2019, Vol. 37 ›› Issue (6): 677-680.doi: 10.7518/hxkq.2019.06.019

• 病例报告 • 上一篇    下一篇

颅锁骨发育不全1例及基因突变分析

郭凌燕1,徐珮琼2,陈林林1()   

  1. 1. 南昌大学附属口腔医院口腔颌面外科,江西省口腔生物医学重点实验室
    2. 南昌大学附属口腔医院正畸科,江西省口腔生物医学重点实验室,南昌 330006
  • 收稿日期:2019-03-18 修回日期:2019-06-21 出版日期:2019-12-01 发布日期:2019-11-27
  • 通讯作者: 陈林林 E-mail:oral_surgery@sina.com
  • 作者简介:郭凌燕,主治医师,硕士,E-mail:37456945@qq.com

Cleidocranial dysplasia: a case report and gene mutation analysis

Guo Lingyan1,Xu Peiqiong2,Chen Linlin1()   

  1. 1. Dept. of Oral and Maxillofacial Surgery, Affiliated Stomatological Hospital of Nanchang University, The Key Laboratory of Oral Biomedicine in Jiangxi Province, Nanchang 330006, China
    2. Dept. of Orthodontics, Affiliated Stomatological Hospital of Nanchang University, The Key Laboratory of Oral Biomedicine in Jiangxi Province, Nanchang 330006, China
  • Received:2019-03-18 Revised:2019-06-21 Online:2019-12-01 Published:2019-11-27
  • Contact: Linlin Chen E-mail:oral_surgery@sina.com

摘要:

颅锁骨发育不全是一种罕见的常染色体显性遗传疾病,以骨骼及牙齿发育异常为特征。本文对1例颅锁骨发育不全病例进行报道,并经基因检测,证实了一个新的移码突变。

关键词: 颅锁骨发育不全, 常染色体显性遗传, 基因突变

Abstract:

Cleidocranial dysplasia is a rare autosomal dominant hereditary disease characterized by abnormal skeletal and dental development. In this work, a case of cleidocranial dysplasia is reported, and a new frameshift mutation is confirmed by gene detection.

Key words: cleidocranial dysplasia, autosomal dominant inheritance, gene mutation

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