Article
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders.
AJNR. American journal of neuroradiology - 1 Jan 2021
Talenti G, Robson C, Severino M S, Alves C A, Chitayat D, Dahmoush H, Smith L, Muntoni F, Blaser S I, D'Arco F
Abstract excerpt
BACKGROUND AND PURPOSE: Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy are α-dystroglycan-related muscular disorders associated with brain malformations and eye abnormalities in which no structural inner ear abnormality has been described radiologically. We collected patients from 6 tertiary pediatric hospitals and reported the radiologic features and frequency of...
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