Klippel-Feil syndrome with bilateral stapes anomalies - A case report

Abstract

Klippel-Feil syndrome is characterized by a clinical triad consisting of a short neck, decreased head mobility, and low occipital hairline; additionally, the triad is accompanied by hearing loss in 80% of patients. We encountered a patient with this syndrome who had undergone stapedotomy for bilaterally present stapes anomalies. The patient was a 10-year-old boy with a chief complaint of hearing loss in both ears. Pure tone audiometry at the first visit showed combined hearing loss in both ears (76.7 dB in the right ear and 70 dB in the left). Exploratory tympanotomy was performed in his right ear. Shortened incus long process, missing stapes, oval window atresia, and aberrant facial nerve were observed. Stapedotomy-M was performed, which improved his hearing; however, postoperatively, transient facial nerve paralysis was observed. Further, similar ossicular chain anomalies were seen on the contralateral side. Stapedotomy-M on the left side did not result in significant improvement in his hearing. Since various middle-ear anomalies are observed in patients with this syndrome, we should be careful to avoid causing intraoperative injuries during exploratory tympanotomy and tympanoplasty.