Neuropathological findings in thanatophoric dysplasia

Central nervous system abnormalities were found in seven infants with thanatophoric dysplasia, including two with cloverleaf skull deformity. These abnormalities were megalencephaly, dysplastic temporal cortex, lateral displacement of basal ganglia, dysplasia of several nuclei, and fiber tract deformities. They are characteristic and distinct components of thanatophoric dysplasia.