摘要
目的:收集、观察3例牙根发育不良患儿,探讨该疾病的实质病因。方法:采用临床、实验室检查方法对3例患儿进行详细的体检,并分析导致出现牙根发育不良表型的遗传学因素。结果:3例牙根发育不良患儿分别诊断为:病例1为一种新表型的牙根发育缺陷的低碱性磷酸酯酶症;病例2为儿童型低碱性磷酸酯酶症;病例3为一种新表型的综合征。结论:本研究发现的3种不同临床表型的牙根发育不良疾病初步认为可能是基因突变导致的遗传性疾病或发育异常疾病。
AIM： To explore the real pathogeny of 3 chinese children with hypoplasia of teeth roots. METHODS ： 3 children with hypoplasia of teeth were examined and analyzed carefully by clinical examination and laboratory test to find the genetic factors. RESULTS： Three HTR patients were assessed separately as a novel hypophosphatasia with HTR phenotype, a typical children hypophosphatasia, and a novel syndrome （including oentinogenesis imperfecta, hypohidrotic ectodermal dysplasia, HTR）. CONCLUSION： 3 kinds of HTR disease were regarded as the genetic diseases or dysplasia resulted by gene mutation.
出处
《牙体牙髓牙周病学杂志》
CAS
2007年第6期337-341,共5页
Chinese Journal of Conservative Dentistry
基金
国家自然科学基金面上项目青年基金(30600709)
陕西省科技计划-社发攻关项目2006k11-G1(2)
第四军医大学口腔医学院创新工程项目资助
关键词
牙根发育不良疾病
临床检查
实验室检查
hypoplasia of teeth roots
clinical examination
laboratory test
