Chudley-McCullough Syndrome

Meltem Ozdemir, Alper DilliJournal of Clinical Imaging Science 2018 8(1):45-45Chudley-McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss and specific brain abnormalities. The hearing loss may be congenital or early onset. Brain abnormalities are striking, but despite these brain malformations, individuals with CMS do not present significant neurodevelopmental abnormalities. Recently, the cause of CMS has been shown to be the inactivating mutations in G protein signaling modulator 2. We aimed to present a 36-year-old male who has the characteristic clinical and neuroimaging findings of CMS.

Source: Journal of Clinical Imaging Science - November 15, 2018 Category: Radiology Authors: Meltem Ozdemir Alper Dilli Source Type: research