Marres H A, Cremers C W, Huygen P L, Joosten F B
Department of Otorhinolaryngology, University Hospital, Nijmegen, The Netherlands.
J Laryngol Otol. 1994 Jan;108(1):13-8. doi: 10.1017/s002221510012571x.
Commissural lip pits, pinna dysplasia, pre-auricular sinus and hearing loss constitute a recently described autosomal dominant branchial arch syndrome. In a large family, eight out of the 74 members were also affected by conductive hearing loss. No inner ear abnormalities could be demonstrated on the CT scans. In three patients (four ears) out of four patients (six ears), exploratory tympanotomy revealed serious ossicular chain anomalies. In one ear, round window aplasia was also present. Long-term hearing improvement could only be achieved in one ear.
连合唇凹、耳廓发育异常、耳前窦和听力损失构成了一种最近描述的常染色体显性鳃弓综合征。在一个大家庭中，74名成员中有8人也患有传导性听力损失。CT扫描未显示内耳异常。在4例患者（6耳）中的3例患者（4耳）中，探查性鼓室切开术显示存在严重的听骨链异常。在一只耳朵中，还存在圆窗发育不全。只有一只耳朵实现了长期听力改善。
