Daniilidis J, Demetriadis A, Triaridis C, Manolidis L
J Laryngol Otol. 1980 May;94(5):533-44. doi: 10.1017/s0022215100089210.
A case of congenital ear dysplasia, combined with cleft palate and anomalies of the cervical spine and eyes, is described. The case belongs to the group of cervico-ocular-auditory dysplasias (Klippel-Feil syndrome). A strange feature in our case was the co-existence of conductive hypakousia in the right ear, due to congenital fixation of the stapes footplate, with perceptive deafness in the left ear, due to dysplasia of the cochlea and internal auditory meatus. The conductive hypakousia in the right ear was successfully treated by stapedectomy. A review of the literature on the Klippel-Feil syndrome has shown that, in some of them the conductive deafness was unexplained, while in others the deafness was due to dysplasia of the ossicular chain or to a combination of dysplasias of the labyrinth and middle ear in the same ear. The co-existence of middle ear dysplasia in one ear with contralateral dysplasia of the inner ear and internal auditory meatus is rare.
本文描述了一例先天性耳部发育异常，合并腭裂以及颈椎和眼部畸形的病例。该病例属于颈眼耳发育异常组（克利佩尔-费尔综合征）。我们病例的一个奇特特征是，右耳因镫骨足板先天性固定而存在传导性听力减退，左耳因耳蜗和内耳道发育异常而存在感音神经性耳聋。右耳的传导性听力减退通过镫骨切除术成功治愈。对克利佩尔-费尔综合征相关文献的回顾表明，在一些病例中传导性耳聋原因不明，而在其他病例中，耳聋是由于听骨链发育异常或同一耳的迷路和中耳发育异常共同导致的。一只耳中耳发育异常与对侧内耳和内耳道发育异常同时存在的情况较为罕见。
