Klippel-Feil Syndrome with Bilateral Congenital Aural Atresia and Bilateral Congenital Deafness

Park, Chul Won; Jang, Young Ho; Muhn, Dong Suk; Tae, Kyung; Ahn, Kyung Sung

Abstract

BACKGROUND AND OBJECTIVES: The Klippel-Feil syndrome is a congenital anomaly characterized by fusion of the cervical vertebrae. It is often associated with serious congenital anomalies of the nervous, cardivascular, respiratory, and urogenital systems. Another anomaly often associated is hearing loss. For those cases of the Klippel-Feil syndrome accompanying hearing loss, the middle and inner ear deformities were reported in some, whereas aural atresia was extremely rare. The purpose of this paper is to report the fact that Klippel-Feil syndrome can be combined with congenital aural atresia and deafness. MATERIAL & METHOD: Recently we experienced a case of Klippel-Feil syndrome in a 28 year old female. In this case, the second and third cervical vertebrae were fused. The patient also presented a short neck, cardiovascular anomaly, bilateral congenital deafness, and bilateral congenital aural atresia. Radiographical observation showed soft tissue density in the bilateral external uditory canals and stenosis of bilateral internal auditory canals, but no definite middle and inner ear anomalies in the temporal bone were found by computerized tomogram. RESULT: As operative procedures, canaloplasty and meatoplasty were performed after cholesteatoma removal from the external auditory canal. The external auditory canal has been well maintained following the surgery.
CONCLUSION
For patients with the Klippel-Feil syndrome, we must do full evaluation of the whole body in order to treat first any life threatening problems. Evaluation of hearing should then be followed to implement appropriate treatment and early rehabilitation.