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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Thanatophoric dysplasia | 1A1 Thanatophoric dysplasia (Case 1) T2 3
1A1,2 Magnetic resonance imaging showed a dysplastic calvarium with a dolichocephalic skull, midface hypoplasia, narrowing of the foramen magnum with compression of the upper cervical spinal cord, ventriculomegaly, marked thinning of the corpus callosum; partial agenesis of the corpus callosum; and poorly demarcated cortex within the temporal poles, suggestive of cortical dysplasia.