Autosomal recessive frontotemporal pachygyria

Am J Med Genet A. 2004 Jan 30;124A(3):231-8. doi: 10.1002/ajmg.a.20388.


Pachygyria is a cortical malformation that results from the abnormal migration of neurons. Regions of the brain with pachygyria have an abnormally thick cortex that lacks normal folding and has deficient layering. We describe three siblings, born to nonconsanguineous Mexican parents, who have bilateral frontotemporal pachygyria without polymicrogyria. The pachygyria is accompanied by moderate mental retardation, esotropia, and either hypertelorism or telecanthus. They are otherwise morphologically normal and do not have microcephaly. Two experienced a single seizure in infancy. The characteristic phenotype present in this family suggests a new genetic syndrome that is likely inherited as an autosomal recessive trait.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Family Health
  • Female
  • Frontal Lobe / abnormalities*
  • Genes, Recessive*
  • Humans
  • Male
  • Nervous System Malformations / genetics
  • Nervous System Malformations / pathology
  • Pedigree
  • Syndrome
  • Temporal Lobe / abnormalities*