颅骨锁骨发育不全与牙齿发育异常的联系  

Overview of the relationship between cleidocranial dysplasia and abnormal tooth development

作　　者：杨洁 刘奕[1] YANG Jie;LIU Yi(Department of Orthodontics,School and Hospital of Stomatology,China Medical University,Liaoning Provincal Key Laboratory of Oral Disease,Shenyang 110002,China)

机构地区：[1]中国医科大学口腔医学院 附属口腔医院正畸教研室,辽宁省口腔疾病重点实验室,辽宁沈阳110002

出　　处：《中国实用口腔科杂志》2020年第2期73-77,81,共6页Chinese Journal of Practical Stomatology

基　　金：辽宁省自然科学基金(20180550420)。

摘　　要：颅骨锁骨发育不全(cleidocranial dysplasia,CCD)是一种罕见的常染色体显性遗传病,表现为骨骼和牙齿的发育异常,如颅骨骨缝延迟闭合、锁骨发育不全或再生障碍、多生牙、乳牙滞留等,临床症状明显,需要临床医生早期干预治疗且治疗过程相对复杂。CCD的发生与Runt相关转录因子2(Runt-related transcription factor 2,RUNX2)的突变有关。文章就CCD的临床表现、病因与遗传学、诊断、治疗以及预防做一概述。Cleidocranial dysplasia(CCD)is an infrequent autosomal dominant disorder which is associated with developmental anomaly of the skeleton and the teeth,such as delayed closure of the cranial sutures,clavicle hypoplasia,supernumerary teeth,deciduous tooth retention,etc.It is a kind of serious and complex disease that requires intervention.CCD is caused by mutations in the Runtrelated transcription factor 2(RUNX2).In this review,we made a summary of clinical manifestations,pathogenetic mechanisms and genetics,diagnosis,treatment and prevention of CCD.

关 键 词：颅骨锁骨发育不全 牙齿异常 骨骼异常 

分 类 号：R78[医药卫生—口腔医学]