Stickler Syndrome Type I with Profound Sensorineural Hearing Loss
Author:Â Zizlavsky, Semiramis;Â Hafifah, Cut N.;Â Handoko, Elizabeth V. V.;Â Sekarsari, Damayanti;Â Yunus, Reyhan E.
Informations
JournalOtorhinolaryngology Clinics
PublisherJaypee Brothers Medical Publishers (P) Ltd, An International Journal of Otorhinolaryngology Clinics 16 (2), 94-97, 2025
Volume & IssueVol. 16,Issue 2
Pages94 - 97
Publication Year2024
ISSN0975444X
Source TypeScopus
Abstract
Stickler syndrome, a genetic disorder characterized by collagenopathy involving the craniofacial, skeletal, ocular, and auditory organs, is inherited in an autosomal dominant manner. We reported a 7-year-old boy diagnosed with Stickler syndrome type I (STL1) presenting with profound bilateral sensorineural hearing loss along with craniofacial, skeletal, and ocular abnormalities. © The Author(s).
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