蒙古族罕见的遗传型牙本质发育不全Ⅱ型—大家系

The Dentinogenesis ImperfectaType Ⅱ of A Large Rare Mongolian Family

目的:确定该家系遗传病的临床类型和遗传方式.方法:进行现场调查、临床检查以及系谱调查与系谱分析方法.结果:本家系患者共有26名,其中12名男性和14名女性.患者牙冠从灰色到棕黄色不等,釉质易剥脱,牙本质暴露后磨耗迅速,严重影响美观,并造成咀嚼、发音等功能障碍.结论:本蒙古族家系临床表现属于牙本质发育不全Ⅱ型,遗传学分析表明属于常染色体显性方式.

Objective:To define the clinical type and hereditary mode of congenital anodontia in a Mongolian family with the disease.Methods:The work was done by scene investigation?clinical examination,pedigree investigation and analysis.Results:22 patients of the family are still living(male 9,female 13).Conclusion:The main symptom of the disease of the Mongolian family is Dentinogenesis Imperfecta type Ⅱ.Genetic analysis showed that the disease is autosomal dominant inheritance.