Otological findings in cervico-oculo-auditory dysplasia.

Abstract

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.