摘要
我国新生儿听力筛查工作已经取得了显著成效,其中部分耳聋患儿合并其他系统疾病,称为综合征型耳聋。本文介绍几种临床常见耳聋相关综合征的典型临床表现、病程发展特征、分子病因等,帮助家长和临床工作者认识和鉴别诊断综合征型耳聋,在患病早期甚至症状出现之前及早干预,以提高临床精准诊疗水平。
Since the launch of newborn hearing screening in our country,remarkable results have been achieved.Some children with deafness are combined with other symptoms,which is called syndromic deafness.The author introduced the typical clinical characteristics,progression,molecular etiology of some common deafness related syndromes,to help parents and clinicians recognize and differentially diagnose syndromic deafness,to intervene in the early onset or even before the symptoms appear,to improve the clinical precision diagnosis.
作者
袁慧军
卢宇
YUAN Hui-jun;LU Yu
出处
《中国听力语言康复科学杂志》
2021年第3期161-163,共3页
Chinese Scientific Journal of Hearing and Speech Rehabilitation
关键词
先天性耳聋
综合征型耳聋
基因诊断
精准医学
Congenital deafness
Syndromic deafness
Genetic diagnosis
Precision medicine
