Cerebellar Heterotopias: Expanding the Phenotype of Cerebellar Dysgenesis in CHARGE Syndrome.

Abstract excerpt

BACKGROUND AND PURPOSE: Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a multisystem developmental disorder associated with a number of well-described clinical and imaging findings, including cerebellar hypoplasia. We observed cerebellar heterotopias on MR imaging in...

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