A new autosomal recessive syndrome of pachygyria

R. Straussberg, S. Gross, J. Amir, N. Gadoth

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)498-501
Number of pages4
JournalClinical Genetics
Volume50
Issue number6
DOIs
StatePublished - Dec 1996

Keywords

  • Autosomal recessive
  • Lissencephaly
  • Pachygyria

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