Pachygyria/hypogenitalism: A monogenic syndrome

Am J Med Genet. 1999 Nov 26;87(3):254-7.

Abstract

We describe the clinical and neuroimaging findings of two severely retarded boys born to consanguineous parents. This appears to be a monogenic condition of abnormal neuronal migration associated with hypogenitalism. Reports of other monogenic syndromes of neuronal migration abnormalities are reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Cell Movement
  • Cerebral Cortex / abnormalities*
  • Cerebral Cortex / pathology
  • Child
  • Child, Preschool
  • Growth Disorders / genetics*
  • Humans
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Penis / abnormalities*
  • Penis / pathology
  • Testis / abnormalities*
  • Testis / pathology