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Oculodentodigital dysplasia, a rare genetic disorder caused by mutations in the gene encoding gap junction protein 1, classically presents wit typical facial features, dental and ocular anomalies, and syndactyly. Diffuse supratentorial hypomyelination, T2-hypointense Rolandic and primary visual cortex, and symmetric involvement of middle cerebellar penduncle, pyramidal tract, and medial lemniscus was present in all. |
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