AIM: To analyze differences in prevalence and pattern of tooth agenesis and craniofacial morphology between non syndromic children with tooth agenesis with and without upper cervical spine morphological deviations and...AIM: To analyze differences in prevalence and pattern of tooth agenesis and craniofacial morphology between non syndromic children with tooth agenesis with and without upper cervical spine morphological deviations and to analyze associations between craniofacial morphology and tooth agenesis in the two groups together. METHODS: One hundred and twenty-six pre-orthodontic children with tooth agenesis were divided into two groups with(19 children, mean age 11.9) and without(107 children, mean age 11.4) upper spine morphological deviations. Visual assessment of upper spine morphology and measurements of craniofacial morphology were performed on lateral cephalograms. Tooth agenesis was evaluated from orthopantomograms.RESULTS: No significant differences in tooth agenesis and craniofacial morphology were found between children with and without upper spine morphological deviations(2.2 ± 1.6 vs 1.94 ± 1.2, P > 0.05) but a tendency to a different tooth agenesis pattern were seen in children with morphological deviations in the upper spine. In the total group tooth agenesis was associated with the cranial base angle(n-s-ba, r = 0.23,P < 0.01), jaw angle(ML/RLar, r = 0.19, P < 0.05), mandibular inclination(NSL/ML, r =-0.21, P < 0.05), mandibular prognathia(s-n-pg, r = 0.25, P < 0.01), sagittal jaw relationship(ss-n-pg, r =-0.23, P < 0.5), overjet(r =-0.23, P < 0.05) and overbite(r =-0.25, P < 0.01). CONCLUSION: Etiology of tooth agenesis in children with upper spine morphological deviations was discussed. The results may be valuable for the early diagnosis and treatment planning of non syndromic children with tooth agenesis.展开更多
选择性先天缺牙是由遗传或环境因素导致的牙齿数目异常,多累及恒牙列。低密度脂蛋白受体相关蛋白6(low-density lipoprotein receptor-related protein 6,LRP6)是选择性先天缺牙的常见致病基因之一,该基因突变为常染色体显性遗传,可导...选择性先天缺牙是由遗传或环境因素导致的牙齿数目异常,多累及恒牙列。低密度脂蛋白受体相关蛋白6(low-density lipoprotein receptor-related protein 6,LRP6)是选择性先天缺牙的常见致病基因之一,该基因突变为常染色体显性遗传,可导致非综合征型先天缺牙或综合征型先天缺牙;非综合征型先天缺牙仅表现为牙齿数目、形态异常;综合征型先天缺牙可表现为耳部发育畸形、口面裂、毛发稀少、汗腺异常等。笔者就近年来关于LRP6基因突变导致选择性先天缺牙的表型及基因突变特点的研究现况进行综述,文献收纳24个LRP6基因突变位点和38例相关先天缺牙患者,发现LRP6基因突变导致的选择性先天缺牙好发于上颌侧切牙及上下颌第二前磨牙和第一前磨牙,极少发生于第一磨牙,尤其是下颌第一磨牙,未见上颌中切牙缺失。LRP6基因在牙发育过程中主要通过WNT/β-catenin信号通路发挥重要作用,LRP6基因突变可导致蛋白表达和功能异常、信号通路破坏从而导致选择性先天缺牙。现有文献结果显示,LRP6基因突变好发于胞外段E1、E2亚结构域,影响WNT/β-catenin信号通路的传导而致病。然而目前对于选择性先天缺牙仍缺乏成熟完善的对因治疗。展开更多
基金Supported by Copenhagen University Research FoundationNo.21-12-2012
文摘AIM: To analyze differences in prevalence and pattern of tooth agenesis and craniofacial morphology between non syndromic children with tooth agenesis with and without upper cervical spine morphological deviations and to analyze associations between craniofacial morphology and tooth agenesis in the two groups together. METHODS: One hundred and twenty-six pre-orthodontic children with tooth agenesis were divided into two groups with(19 children, mean age 11.9) and without(107 children, mean age 11.4) upper spine morphological deviations. Visual assessment of upper spine morphology and measurements of craniofacial morphology were performed on lateral cephalograms. Tooth agenesis was evaluated from orthopantomograms.RESULTS: No significant differences in tooth agenesis and craniofacial morphology were found between children with and without upper spine morphological deviations(2.2 ± 1.6 vs 1.94 ± 1.2, P > 0.05) but a tendency to a different tooth agenesis pattern were seen in children with morphological deviations in the upper spine. In the total group tooth agenesis was associated with the cranial base angle(n-s-ba, r = 0.23,P < 0.01), jaw angle(ML/RLar, r = 0.19, P < 0.05), mandibular inclination(NSL/ML, r =-0.21, P < 0.05), mandibular prognathia(s-n-pg, r = 0.25, P < 0.01), sagittal jaw relationship(ss-n-pg, r =-0.23, P < 0.5), overjet(r =-0.23, P < 0.05) and overbite(r =-0.25, P < 0.01). CONCLUSION: Etiology of tooth agenesis in children with upper spine morphological deviations was discussed. The results may be valuable for the early diagnosis and treatment planning of non syndromic children with tooth agenesis.
文摘选择性先天缺牙是由遗传或环境因素导致的牙齿数目异常,多累及恒牙列。低密度脂蛋白受体相关蛋白6(low-density lipoprotein receptor-related protein 6,LRP6)是选择性先天缺牙的常见致病基因之一,该基因突变为常染色体显性遗传,可导致非综合征型先天缺牙或综合征型先天缺牙;非综合征型先天缺牙仅表现为牙齿数目、形态异常;综合征型先天缺牙可表现为耳部发育畸形、口面裂、毛发稀少、汗腺异常等。笔者就近年来关于LRP6基因突变导致选择性先天缺牙的表型及基因突变特点的研究现况进行综述,文献收纳24个LRP6基因突变位点和38例相关先天缺牙患者,发现LRP6基因突变导致的选择性先天缺牙好发于上颌侧切牙及上下颌第二前磨牙和第一前磨牙,极少发生于第一磨牙,尤其是下颌第一磨牙,未见上颌中切牙缺失。LRP6基因在牙发育过程中主要通过WNT/β-catenin信号通路发挥重要作用,LRP6基因突变可导致蛋白表达和功能异常、信号通路破坏从而导致选择性先天缺牙。现有文献结果显示,LRP6基因突变好发于胞外段E1、E2亚结构域,影响WNT/β-catenin信号通路的传导而致病。然而目前对于选择性先天缺牙仍缺乏成熟完善的对因治疗。
