一例全口恒牙迟萌病例的病因学研究和分析  

Clinical study of a case with complete failure of eruption of all permanent teeth

作　　者：苏文强[1] 刘颍凤[1] 王庆昱[1] 王小竞[1] 

机构地区：[1]第四军医大学口腔医学院,陕西西安710032

出　　处：《牙体牙髓牙周病学杂志》2010年第10期588-591,共4页Chinese Journal of Conservative Dentistry

摘　　要：目的:报道首例中国人全口恒牙迟萌的临床病例并探讨其发病机制。方法:临床接诊1例17岁男性全口恒牙迟萌病人,采用临床、影像学、血液生化检查对其进行初步临床诊断。PCR扩增病人RUNX2基因外显子并测序以检测有无突变位点。结果:该病人具有全口恒牙迟萌、颊黏膜色素沉着、下颌骨对称性骨质增生、左耳神经性耳聋、双手先天性关节挛缩等临床表现。病人血清微量元素、血钙/磷检测正常,碱性磷酸酶值略高于正常。病人RUNX2基因未发现突变位点。结论:初步认为本病例的发病机制与基因变异有关,但可排除RUNX2基因突变致病的可能。AIM：To report and discuss the first Chinese patient with complete failure of eruption of all permanent teeth.METHODS：Informations regarding age,gender,medical history,family history,conditions of tooth eruption,as well as other abnormalities were recorded.Based on these,radiological examinations and serologic examinations were carried out to help to get a clinical diagnosis.Genomic DNA was extracted from peripheral blood and all 8 coding exons of gene RUNX2 were amplified by polymerase chain reaction（PCR）,and the PCR products were then subjected to automatic DNA sequencing.RESULTS：The patient showed unusual clinical features,with delayed eruption of primary teeth,failure of eruption of all permanent teeth,symmetrical non-specific change of buccal mucosa and bony spur of mandible,congenital arthrogryposis of both hands,but with no family history.Serologic examinations showed alkaline phosphatase was a little higher.But no mutation was identified in RUNX2 gene.CONCLUSION：The gene mutation is thought to be related with this case,but RUNX2 gene mutation can be ruled out.

关 键 词：牙齿迟萌 基因突变 颅骨锁骨发育不全综合征 GARDNER综合征 牙本质发育不全Ⅱ型 

分 类 号：R780.2[医药卫生—口腔医学]