Rubinstein-Taybi syndrome and mixed bilateral hypoacousia case report.
OBJECTIVE
To describe a case of Rubinstein-Taybi syndrome (RTS) in association with mixed bilateral hypoacousia.


METHODS
A 10-year-old boy presented at a private otology practice center in Bogotá, Colombia, with signs and symptoms of RTS. In addition, the patient presented with mixed bilateral conductive hypoacousia, predominantly in the left ear with a 40- to 50-dB conductive component, caused by middle ear malformations and fixation of the ossicular chain and stapes footplate.


METHODS
The patient underwent a left exploratory tympanotomy and then a stapedotomy.


METHODS
Computed tomography, genetic evaluation, and audiologic testing.


RESULTS
Postoperative recovery was normal. There was closure of the conductive gap (< or =10 dB) with improvement of subjective hearing.


CONCLUSIONS
We presented a case of a patient with RTS and bilateral mixed hypoacousia who underwent a stapedotomy with a final improvement in his hearing performance. We consider it important to report and describe the simultaneous presence of these pathologic findings and to be able to analyzeif these otologic findings are coincidental or truly associated with RTS.
Peñaranda
Augusto
A
Department of Otorhinolaryngology, Fundación Santa Fe de Bogotá, Bogotá, Colombia. augpenar@cable.net.co
Cerón
Mercedes
M
D001302:Audiometry, Speech; D002648:Child; D004429:Ear Ossicles / Q000002:abnormalities; D004432:Ear, Middle / Q000002:abnormalities; D006312:Hearing Loss, Bilateral / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery*; D006801:Humans; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000150:complications* / Q000000981:diagnostic imaging; D013199:Stapes / Q000002:abnormalities; D014057:Tomography, X-Ray Computed; D014432:Tympanic Membrane / Q000601:surgery