Frontotemporal pachygyria-Two new patients

We describe two Finnish brothers with frontotemporal pachygyria, intellectual deficiency and mild dysmorphisms. Previously, only a few cases of similar frontotemporal pachygyria have been reported. This report provides further evidence about frontotemporal pachygyria being a distinct genetic entity inherited as an autosomal recessive trait.

► We describe two patients with a rare genetic brain malformation, frontotemporal pachygyria. ► We provide further evidence for the existence of this new distinct phenotype, frontotemporal pachygyria. ► We provide information for the unfinished categorization of variant lissencephalies.