口腔医学研究

口腔医学研究 ›› 2023, Vol. 39 ›› Issue (10): 932-934.DOI: 10.13701/j.cnki.kqyxyj.2023.10.016

• 病例报告 • 上一篇    下一篇

Ⅰ型牙本质发育不全伴成骨不全1例

曾碧云1, 黄俊辉1, 陈群2*   

  1. 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
  • 收稿日期:2023-02-06 出版日期:2023-10-28 发布日期:2023-10-25
  • 通讯作者: *陈群,E-mail:183711343@qq.com
  • 作者简介:曾碧云(1998~ ),女,湖南娄底人,硕士在读,医师,研究方向:种植体骨结合。

Dentinogenesis Imperfecta Type Ⅰ with Osteogenesis Imperfecta: A Case Report

ZENG Biyun1, HUANG Junhui1, CHEN Qun2*   

  1. 1. 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;
    2. Department of Endodontics,Xiangya Stomatological Hospital & Xiangya School of Stomatology, Central South University, Changsha 410008, China
  • Received:2023-02-06 Online:2023-10-28 Published:2023-10-25

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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。

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

Abstract: 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 type Ⅰ.

Key words: dentinogenesis imperfecta, dentinogenesis imperfecta type Ⅰ, osteogenesis imperfecta, P3H1 gene