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Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report
Huiying Sun1, Yufei Qiao1, Na Chen1,2
1Department of Otorhinolaryngology, Peking Union Medical College Hospital, 12381Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Abstract:
We report a 6-year-old girl with progressive bilateral conductive hearing loss for 2 years. She passed the newborn hearing screening conducted with otoacoustic emissions testing and had a normal development of speech and language, which indicated that her deafness was delayed-onset. She also had congenital proximal interphalangeal joints. Proximal symphalangism was confirmed by genetic testing (NOG gene: c.406C > T, p.R136C). Bilateral stapes ankyloses were proved by surgery and her hearing was improved after stapedotomy by over 30 dB. Besides, this case should remind clinicians to carefully distinguish NOG gene-related deafness from congenital ossicular malformation and pediatric otosclerosis.
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