外胚叶发育不全的诊断及口腔早期修复

doi:10.7518/hxkq.2025.2025173

华西口腔医学杂志 ›› 2025, Vol. 43 ›› Issue (4): 478-485.doi: 10.7518/hxkq.2025.2025173

• 儿童口腔医学诊疗新进展 • 上一篇下一篇

外胚叶发育不全的诊断及口腔早期修复

林凌(), 李佩, 赵玮()

中山大学光华口腔医学院·附属口腔医院儿童口腔科广东省口腔医学重点实验室，广州 510055

收稿日期:2025-04-20 修回日期:2025-05-23 出版日期:2025-08-01 发布日期:2025-08-29
通讯作者: 赵玮 E-mail:linling23@mail2.sysu.edu.cn;zhaowei3@mail.sysu.edu.cn
作者简介:林凌，医师，博士，E-mail：linling23@mail2.sysu.edu.cn|赵玮，教授、主任医师、博士研究生导师，中山大学附属口腔医院儿童口腔科主任。兼任中华口腔医学会儿童口腔医学专业委员会副主任委员、广东省口腔医学会儿童口腔医学专业委员会主任委员、广东省女医师协会口腔医学专业委员会主任委员。主持及参与国家级、省部厅级科研项目30余项，发表SCI收录及核心期刊论文100余篇，培养儿童口腔医学专业硕士、博士及博士后40余人。研究方向为婴幼儿龋的发病机制及防治策略、牙体硬组织的破坏与修复机制、儿童口腔就诊行为的诱导与管理、特殊需要儿童（残障儿童、先心病儿童）口腔健康状况调查及相关风险因素分析等。
基金资助:
广东省自然科学基金(2023A1515012554)

Research progress on the diagnosis of ectodermal dysplasia and early oral prosthodontic treatment

Lin Ling(), Li Pei, Zhao Wei()

Dept. of Pediatric Dentistry, Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University & Guang dong Provincial Key Laboratory of Stomatology, Guangzhou 510055, China

Received:2025-04-20 Revised:2025-05-23 Online:2025-08-01 Published:2025-08-29
Contact: Zhao Wei E-mail:linling23@mail2.sysu.edu.cn;zhaowei3@mail.sysu.edu.cn
Supported by:
Natural Science Foundation of Guangdong Province(2023A1515012554)

摘要/Abstract

摘要：

外胚叶发育不全是一类以外胚层结构发育缺陷为特征的遗传性疾病，其口腔表现以先天缺牙、牙体形态异常及颌骨发育障碍为核心，严重影响患儿的咀嚼功能、颌面发育及心理健康。本文系统介绍外胚叶发育不全患儿的多维度诊断策略体系及口腔早期修复治疗方法，以期为临床医生对外胚叶发育不全患儿的诊断与治疗提供参考。

关键词: 外胚叶发育不全, 先天缺牙, 早期修复, 疾病诊断

Abstract:

Ectodermal dysplasia is a group of hereditary diseases characterized by developmental defects of ectodermal structures. Its oral manifestations mainly center on congenital missing teeth, abnormal tooth morphology, and maxillofacial bone developmental disorders, which seriously affect the masticatory function, maxillofacial development, and mental health of affected children. In this article, the multidimensional diagnostic strategy system for children with ectodermal dysplasia and the related progress of early oral prosthodontic treatment methods were systematically reviewed to provide references for clinicians in the diagnosis and treatment of children with ectodermal dysplasia.

Key words: ectodermal dysplasia, congential missing teeth, early prosthodontic treatment, disease diagnosis

中图分类号:

R781.6

林凌, 李佩, 赵玮. 外胚叶发育不全的诊断及口腔早期修复[J]. 华西口腔医学杂志, 2025, 43(4): 478-485.

Lin Ling, Li Pei, Zhao Wei. Research progress on the diagnosis of ectodermal dysplasia and early oral prosthodontic treatment[J]. West China Journal of Stomatology, 2025, 43(4): 478-485.

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基因	位置	OMIM编号
EDA	Xq12-q13.1	305100
EDAR	2q12.3	129490d、224900r
EDARADD	1q43	606603
NEMO	Xq28	300291

外胚叶发育不全的诊断及口腔早期修复

Research progress on the diagnosis of ectodermal dysplasia and early oral prosthodontic treatment

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