We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Delayed-Onset NOG Gene-Related Syndromic Conductive Deafness: A Case Report.
- Authors
Sun, Huiying; Qiao, Yufei; Chen, Na; Yang, Hua; Gao, Zhiqiang; Shang, Yingying
- 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.
- Subjects
EAR surgery; CONDUCTIVE hearing loss; OTOSCLEROSIS; HAND abnormalities
- Publication
ENT: Ear, Nose & Throat Journal, 2021, Vol 100, p333S
- ISSN
0145-5613
- Publication type
Article
- DOI
10.1177/0145561320944639