Pachygyria, Frontotemporal

Clinical Features

Ramirez et al. (2004) described 3 sibs, born to nonconsanguineous Mexican parents, who had bilateral frontotemporal pachygyria without polymicrogyria. The 2 sisters and their brother shared the additional features of moderate mental retardation, esotropia, telecanthus or hypertelorism, and normal or slightly decreased neuromuscular tone and deep tendon reflexes. There were 2 unaffected brothers in the family.

Inheritance

Ramirez et al. (2004) suggested that this syndrome is most likely inherited as an autosomal recessive trait.