Article
Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.
International journal of pediatric otorhinolaryngology - 2 Oct 1998
Cremers C W, Admiraal R J, Huygen P L, Bolder C, Everett L A, Joosten F B, Green E D, van Camp G, Otten B J
Abstract excerpt
Long-term hearing threshold-on-age follow-up data, including non-linear regression analysis, are given for 12 consecutive Pendred patients. The clinical diagnosis of Pendred's syndrome was confirmed by a mutation analysis of the PDS gene in 11 out of the 11 cases tested. Recent imaging of the temporal bones in seven out of these 12 patients showed widened vestibular aqueducts in each case. The diagnostic...
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