Jacobson J T
Department of Otolaryngology-Head and Neck Surgery, Eastern Virginia Medical School, Norfolk 23507.
J Am Acad Audiol. 1995 Jan;6(1):15-27.
It is estimated that about one half of all congenital deafness and/or hearing impairment is inherited and that approximately one third of this communicative disorder is associated with syndromic abnormalities. The remainder of inherited deafness occurs as an isolated entity, independent of alterations in physical status or any disease process. This latter group typically presents with no clinical signs or symptoms or other dysmorphic stigmata that might help in the early identification of hearing loss. As contemporary advances in genetic testing and therapy emerge, there is an ever-increasing opportunity to provide improved diagnosis and counseling to those with inherited disorders. Over the past 3 decades, there have been several distinct categorical systems introduced to define deafness. Most often, the nosology of deafness is described by either origin, onset, degree and type of severity, and/or structural pathology. Therefore, understanding the cause and nature of hearing loss is the first measure in the accurate diagnosis and management of patient care. This article describes several classification schemata, citing examples of numerous congenital syndromes and other disorders that contribute to deafness.
据估计，所有先天性耳聋和/或听力障碍中约有一半是遗传性的，而这种交流障碍中约有三分之一与综合征性异常有关。其余遗传性耳聋则表现为独立的病症，与身体状况改变或任何疾病过程无关。后一组通常没有临床体征或症状，也没有其他可能有助于早期识别听力损失的畸形特征。随着基因检测和治疗的当代进展不断涌现，为患有遗传性疾病的人提供更好的诊断和咨询的机会越来越多。在过去三十年中，已经引入了几种不同的分类系统来定义耳聋。耳聋的分类学最常通过病因、发病时间、严重程度的程度和类型，和/或结构病理学来描述。因此，了解听力损失的原因和性质是准确诊断和管理患者护理的首要措施。本文介绍了几种分类模式，并列举了许多导致耳聋的先天性综合征和其他疾病的例子。
