Rossmiller D R, Pasic T R
Division of Otolaryngology-Head and Neck Surgery, School of Medicine, University of Wisconsin.
Otolaryngol Head Neck Surg. 1994 Sep;111(3 Pt 1):175-80. doi: 10.1177/01945998941113P103.
Townes-Brocks syndrome is an autosomal dominant syndrome consisting of anomalies affecting the ear, hand, foot, anus, and kidney. Anomalies affecting the ear include lop ear, preauricular skin tags, ossicular abnormalities, and a mixed hearing loss. The hearing loss in Townes-Brocks syndrome is predominantly sensorineural, affects high-frequency thresholds more than low-frequency thresholds, and has a variable (usually small) conductive component. The sensorineural component of the hearing loss is slowly progressive. It is typically in the mild range (20 to 40 dB hearing level) during early childhood and progresses to the moderate hearing loss range (40 to 60 dB hearing level) by early adulthood. We present a description of the otologic manifestations and an analysis of audiologic findings in six members of a family with Townes-Brocks syndrome.
汤姆斯-布罗克斯综合征是一种常染色体显性综合征,由影响耳朵、手、脚、肛门和肾脏的异常组成。影响耳朵的异常包括垂耳、耳前皮肤赘生物、听骨异常和混合性听力损失。汤姆斯-布罗克斯综合征中的听力损失主要是感音神经性的,对高频阈值的影响大于低频阈值,并且有一个可变的(通常较小)传导性成分。听力损失的感音神经性成分进展缓慢。在幼儿期通常处于轻度范围(听力水平20至40分贝),到成年早期进展为中度听力损失范围(听力水平40至60分贝)。我们描述了一个患有汤姆斯-布罗克斯综合征的家族中六名成员的耳科表现,并对听力学检查结果进行了分析。