非综合征型先天性牙发育不全的临床研究

Clinical research of inborn non-syndrome tooth agenesis

目的探讨非综合征型先天性牙发育不全(NSTA)的临床特点。方法对已确诊的4个非综合征型先天性牙发育不全先证者所在的家系18名成员(11名患病,7名正常)进行研究。行口腔专科检查、口腔全景片检查和进行家系调查与遗传学系谱分析。取外周静脉血行实验室检查,行染色体分析(常染色体数、性染色体数、核型、数目畸变率、结构畸变率等),检测血清微量元素铜、锌、铁、镁、钙及血清碱性磷酸酶(ALP)。结果本组病例各患者牙齿大小、形态和牙列畸形等临床表现各不相同,呈多样性。罹患牙齿的牙位具有选择性,以上下颌侧切牙发病率最高,其次为尖牙,再其次为前磨牙和第二磨牙,第一磨牙发病率及上颌中切牙最低;本组4个家系调查表现为常染色体显性遗传。血清微量元素及碱性磷酸酶(ALP)检测基本正常。结论非综合征性先天性牙发育不全其临床表现具有多样性,但罹患牙齿(包括缺失牙和畸形牙)的牙位具有选择性。

Objective To study characteristics of inborn non-syndrome tooth agenesis（NSTA）,in order to provide evidence for clinical diagnose so as to cure this disease.Methods Members with inborn non-syndrome tooth agenesis（including 7 healthy members and 11 patients） of 4 family constellation who were finally diagnosised in Department of Orthodontics,Stomatology Hospital,Medicine College,ZheJiang University were investigated.Special examinations on oral cavity were performed,including shape and size of teeth,dentition and dental formula;then systematic medical examination were performed to exclude hairs,nails or sweat glands abnormality.Oral panorama scopy was pertormed to verify conditions of teeth,excluding possibility of ambushed or impacted tooth.Genetics pedigree analysis was done by Family survey.Laboratory examinations of peripheral venous blood,including Chromosome analysis（autosome number,heterosome number,caryotype,numerical aberration ratio,structural aberration ratio,et al）,serum microelements cuprum,zincum,ferrum,magnesium,calcium and serum alkaline phosphatase（ALP） were achieved.Results Patients＇ clinical situations showed multiplicity,including number or position of missing teeth,size or shape of teeth in mouths and diverse dentia malformation.Missing rate of premolars was the highest,then lateral incisor and second molar,while first molar and canines were the lowest.Genealogy study results indicated autosomal dominant inheritance.Serum microelements cuprum,zincum,ferrum,magnesium,calcium and serum alkaline phosphatase（ALP）were mainly normal.Conclusions Clinical situation and mode of inheritance of NSTA are various;the position of missing teeth is selective.