3 岁中国男童患耳牙综合征 3 年的随访：罕见病例报告。

Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report.

机构信息

Department of Stomatology, Children's Hospital, Zhejiang University School of Medicine, NO. 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, People's Republic of China.

Key Laboratory of Oral Medicine, Guangzhou Institute of Oral Disease, Affiliated Stomatology Hospital of Guangzhou Medical University, Guangzhou, 510140, China.

出版信息

BMC Oral Health. 2019 Jul 25;19(1):164. doi: 10.1186/s12903-019-0860-z.

DOI:10.1186/s12903-019-0860-z

PMID:31345197

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6659250/

Abstract

BACKGROUND

Otodental syndrome is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and sensorineural hearing loss. In this case report, we reported a 3-year-old Chinese boy with the otodental syndrome.

CASE PRESENTATION

A 3-year-old Chinese boy was referred to our hospital with complaint of no eruption of primary canines and molars. Three years follow-up showed lately erupted bulbous primary canines with hypoplastic enamel spot, globe-shaped primary molars and sensorineural hearing loss at 4 and a half-year-old age. We diagnosed otodental syndrome in the patient's mother with hearing loss at 16-year-old age. Gene sequencing and analysis of deafness-related genes GJB2, GJB3, SLC26A4, and mtDNA did not reveal any mutation or SNPs in the patient and his mother.

CONCLUSIONS

This case report highlights the importance of detailed medical, dental, and family history examination, as well as multi-disciplinary teamwork for diagnosis and treatment of otodental syndrome.

摘要

背景

耳齿综合征是一种极其罕见的常染色体显性遗传疾病，其特征为后牙迟萌、球状牙、口齿不清和感觉神经性听力损失。在本病例报告中，我们报告了一例患有耳齿综合征的 3 岁中国男孩。

病例介绍

一名 3 岁的中国男孩因无乳前牙和乳磨牙萌出而被转至我院。3 年的随访显示，患儿的乳前牙呈球状，牙釉质发育不全，有凹陷斑点；乳磨牙也呈球形，且在 4 岁半时出现感音神经性听力损失。我们在患儿母亲身上诊断出耳齿综合征，其在 16 岁时就出现听力损失。对耳聋相关基因 GJB2、GJB3、SLC26A4 和 mtDNA 的基因测序和分析并未在患儿及其母亲身上发现任何突变或 SNP。