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CASE REPORT
Year : 2018  |  Volume : 8  |  Issue : 1  |  Page : 45

Chudley-McCullough Syndrome


Department of Radiology, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey

Correspondence Address:
Dr. Meltem Ozdemir
Department of Radiology, University of Health Sciences, Dışkapı Training and Research Hospital, Ziraat Mah, Şehit Ömer Halisdemir Cad. No: 20, Altıdağ/Ankara
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jcis.JCIS_39_18

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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.


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