牙釉质发育不全1B
基因病名称(英)
Amelogenesis imperfecta 1B
关键字(英)
Amelogenesis imperfecta
别名(英)
AIH2,Amelogenesis imperfecta hypoplastic 2,Amelogenesis imperfecta hypoplastic local autosomal dominant,Amelogenesis imperfecta type IB,Hereditary localized enamel hypoplasia
别名
AIH2,牙釉质发育不全发育不全2,牙釉质发育不全发育不全局部常染色体显性遗传,牙釉质发育不全IB型,遗传性局部牙釉质发育不全
统计
reviewed:1; annotated:0
交叉引用
104500,C0399368,D000567
描述(英)
An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI).
描述
牙釉质形成的常染色体显性遗传缺陷。临床表现可能不同。一些病例表现为广泛的牙釉质发育不全，导致牙齿小、光滑、黄色和间隔宽（光滑的发育不全 AI）。其他显示牙釉质中水平排列的凹坑、凹槽或发育不全区域（局部发育不全 AI）。