Proximal Symphalangism and Congenital Stapes Fixation

기부지절유합증을 동반한 선천성등골고정증

The combination of congenital stapes fixation and proximal symphalangism has been described in several kindreds. It exhibits autosomal dominant inheritance. A patient, 11-year-old female, visited department of otolaryngology of SNUH in December, 1980. Her complaint was bilateral hearing loss since birth. Physical examination revealed fusion of proximal interphalangeal joints of both 4th and 5th fingers. Tympanic membrane was normal. Temporal bone X-ray was normal. Pure tone audiogram revealed about 60 dB conductive loss with horizontal curve. On exploratory tympanotomy of right side, bony fixation of stapedial footplate was found. So, stapedectomy with connective tissue wire prosthesis was performed. As a result, marked improvement of hearing was obtained with 5 dB A-B gap on operated side.

기부지절유합증과 선천성등골고정증의 병발은 상염색체우성유전을 하는 드문 질환으로시 현재까지 수예가 보고되어 있다. 환자는 11세의 여자로서 출생후부터의 양측성 난청을 주소로 1980년 12월 내원하였다. 고막소견과 측두골 X-선소견은 양측 정상이었으며 양측 제 4,5수지의 기부지절유합증이 있었고 다른 관절 부위는 정상이었다. 우측에 Exploratory tympanotomy를 실시한 결과 등골족판의 fixation이 발견되어 Stapedectomy를 실시하였으며 그 결과 5dB평 골기도 격차를 보이는 수평형의 정상범위내의 청력증진을 보였다.