Ⅰ型牙本质发育不全伴成骨不全1例  

Dentinogenesis Imperfecta Type Ⅰ with Osteogenesis Imperfecta: A Case Report

作　　者：曾碧云 黄俊辉[1] 陈群[2] ZENG Biyun;HUANG Junhui;CHEN Qun(Department of Oral Pathology,Xiangya Stomatological Hospital&Xiangya School of Stomatology&Hunan Key Laboratory of Oral Health Research&Hunan 3D Printing Engineering Research Center of Oral Care,Central South University,Changsha 410008,China;Department of Endodontics,Xiangya Stomatological Hospital&Xiangya School of Stomatology,Central South University,Changsha 410008,China)

机构地区：[1]湘雅口腔医(学)院口腔病理科,湘雅口腔医(学)院口腔健康研究湖南省重点实验室,湘雅口腔医(学)院3D打印口腔医疗工程技术研究中心,中南大学,湖南长沙410008 [2]湘雅口腔医(学)院牙体牙髓科,中南大学,湖南长沙410008

出　　处：《口腔医学研究》2023年第10期932-934,共3页Journal of Oral Science Research

摘　　要：成骨不全(osteogenesis imperfecta, OI)又称脆骨病,是一组结缔组织遗传性疾病,以骨骼脆弱和频繁骨折为主要特征。其出生时的发病率为1∶10000~1∶20000。OI具有多种继发性特征,如蓝色巩膜、牙本质发育不全(dentinogenesis imperfecta, DGI)、听力损失等。本文报告了1例24岁男孩,其主诉为牙齿折断伴疼痛。根据病史采集、临床检查、影像学检查、和基因学检查,我们得出了OI伴Ⅰ型牙本质发育不全的结论。Osteogenesis imperfecta(OI),or brittle bone disease,characterized by bone fragility and susceptibility to fracture,is a group of heritable disorders of connective tissue.The incidence at birth is 1∶10000-1∶20000.OI has multiple secondary features,including blue sclerae,dentinogenesis imperfecta(DGI),hearing loss,and so on.In this paper,we reported a case of 24-year-old boy,with a chief complaint of tooth fracture and pain.On the grounds of history taken,clinical examination,radiological examination,and genetic testing,we came to a conclusion of OI with dentinogenesis imperfecta typeⅠ.

关 键 词：牙本质发育不全 Ⅰ型牙本质发育不全 成骨不全 P3H1基因 

分 类 号：R593.2[医药卫生—内科学] R781[医药卫生—临床医学]