학술논문
中耳畸形相关综合征的分子病因学研究进展 / Research Progress on Molecular Etiology of Syndromes with Middle Ear Deformity
Document Type
Academic Journal
Author
Source
中华耳科学杂志 / Chinese Journal of Otology. 21(5):728-733
Subject
Language
Chinese
ISSN
1672-2922
Abstract
传导性耳聋(Conductive Hearing Loss,CHL)的病因以中耳炎、鼓室占位、外伤、中耳畸形及耳硬化症为主.其中,中耳畸形的发病机制包含胚胎发育异常,并具有一定的遗传相关性.中耳畸形可合并其他系统发育异常或功能障碍,以综合征为表现形式,其临床表型复杂.近年来,相关综合征的分子病因学更多地被发现及探讨.本文探讨中耳胚胎发育过程,归纳相关综合征的临床特征,并就其致病基因及作用机制的研究进展进行综述.
Common causes of conductive deafness include otitis media,tympanic space occupying lesions,trau-ma,middle ear deformity and otosclerosis.Middle ear deformity and otosclerosis can be correlated with genetic factors.Abnormal embryonic development of middle ear is considered to be one of the mechanisms.Middle ear malformation is often accompanied by other abnormalities or dysfunction in syndromes of different phenotypes.In recent years,molecu-lar etiologies of such syndromes have been reported and discussed.In this review,we will discuss the embryonic devel-opment of middle ear and clinical characteristics of related syndromes,focusing on the research progress on their genet-ic etiologies and mechanisms.
Common causes of conductive deafness include otitis media,tympanic space occupying lesions,trau-ma,middle ear deformity and otosclerosis.Middle ear deformity and otosclerosis can be correlated with genetic factors.Abnormal embryonic development of middle ear is considered to be one of the mechanisms.Middle ear malformation is often accompanied by other abnormalities or dysfunction in syndromes of different phenotypes.In recent years,molecu-lar etiologies of such syndromes have been reported and discussed.In this review,we will discuss the embryonic devel-opment of middle ear and clinical characteristics of related syndromes,focusing on the research progress on their genet-ic etiologies and mechanisms.