Affiliation:
1. Department of Radiology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey
Abstract
Chudley-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.
Subject
Radiology, Nuclear Medicine and imaging
Cited by
2 articles.
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1. Brain Malformations;Fetal, Neonatal and Pediatric Neuroradiology;2024
2. Malformations of Cortical Development;Pediatric Neuroradiology;2021