Klippel-Feil Syndrome with Conductive Deafness and Histological Findings of Removed Stapes

Abstract

The Klippel-Feil syndrome is usually associated with sensorineural hearing impairment, but rarely is it associated with conductive or mixed deafness. A 22-year-old female presented with fusion of the cervical vertebrae, torticollis, scoliosis, pterygium colli, the Sprengel deformity with an omovertebral bone, concavity of the thorax and conductive hearing impairment of the right ear. Tympanotomy disclosed an atrophic long process of incus and a fixation of the stapes footplate, and stapedectomy was performed with immediate postoperative improvement of hearing. However, she developed a sudden hearing loss with dizziness soon after she had physical exercise on the 15th postoperative day, and revision surgery revealed a perilymph fistula of the oval window. Histological investigations of the removed stapes showed no specific osseous changes but hyperostosis of the posterior edge of the footplate. The literature is reviewed and the etiology of the conductive deafness and the perilymph fistula is discussed.