颅骨锁骨发育不全综合征及其牙颌面表征

摘要

Cleidocranial dysplasia (CCD) is a hereditary skeletal system disease characterized by autosomal dominant inheritance and rare clinical manifestations. The main cause of CCD was RUNX2 heterozygous mutation gene. In this paper, CCD were reviewed from the following aspects: 1) clinical manifestation, clinical diagnosis and molecular diagnosis of CCD; 2) oral manifestations and corresponding pathogenesis of CCD; 3) treatment of oral representation of CCD.%颅骨锁骨发育不全综合征(CCD)是一种遗传性骨骼系统疾病,为常染色体显性遗传,临床罕见.CCD的主要致病原因为RUNX2基因杂合性突变.本文对CCD主要从以下几个方面进行综述:CCD临床表现、临床诊断及分子水平诊断,CCD的口腔表征及其相应发病机制,CCD的相关口腔表征的处理.