West China Journal of Stomatology ›› 2019, Vol. 37 ›› Issue (6): 677-680.doi: 10.7518/hxkq.2019.06.019

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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

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

CLC Number: