牙釉质发育不全1C
基因病名称(英)
Amelogenesis imperfecta 1C
关键字(英)
Amelogenesis imperfecta
别名(英)
Amelogenesis imperfecta hypoplastic with or without openbite malocclusion autosomal recessive,Amelogenesis imperfecta local hypoplastic type autosomal recessive,Amelogenesis imperfecta type IC
别名
牙釉质发育不全伴或不伴开牙合错合常染色体隐性遗传，牙釉质发育不全局部发育不全型常染色体隐性遗传，牙釉质发育不全型IC
统计
reviewed:1; annotated:0
交叉引用
204650,C2673923,D000567
描述(英)
An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.
描述
牙釉质形成的常染色体隐性遗传缺陷。牙齿显示局部发育不全和未矿化的牙釉质，以及黄褐色变色。牙釉质缺陷可能与面部和口腔特征有关，包括垂直下颌困难和前开合畸形。