Neuropathological and Golgi study on a case of thanatophotoric dysplasia

Neuropathological examination of a 3-day-old female with thanatophoric dysplasia revealed abnormal sulci with polymicrogyria and neuronal heterotopia in the temporal lobes and cerebellar hypoplasia. Rapid Golgi stainings showed immature or maldeveloped neurons with short dendrites and a reduced number of spines in the cerebral cortex, and abnormal neurons with peculiar dendrites in the subcortical heterotopia. These abnormalities were predominant at the base of the large brain which occupied the hypoplastic middle and posterior cranial fossas.