Article
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2.
International journal of pediatric otorhinolaryngology - 1 Mar 2011
Tokgöz-Yılmaz Suna, Sahlı Sanem, Fitoz Suat, Sennaroğlu Gonca, Tekin Mustafa
Abstract excerpt
The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondylomegaepiphyseal dysplasia (OSMED) was followed up after birth for hearing loss. Transient Otoacoustic Emissions (TEOAEs), Distortion...
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