A new autosomal recessive syndrome of pachygyria

Clin Genet. 1996 Dec;50(6):498-501. doi: 10.1111/j.1399-0004.1996.tb02721.x.


Pachygyria is a rare development disorder resulting from impaired neuronal migration. Usually, it is a sporadic phenomenon, but rare dominant or autosomal recessive syndromes are known. This report describes a family in which the parents are first cousins and three of the siblings suffer from moderate mental retardation, pachygyria and strabismus. It is suggested that this is a distinct type of autosomal recessive pachygyria.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Cell Movement
  • Cerebral Cortex / embryology
  • Cerebral Cortex / pathology*
  • Child
  • Child, Preschool
  • Consanguinity
  • Esotropia / genetics*
  • Female
  • Genes, Recessive*
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Neurons / pathology*
  • Reflex, Abnormal