Microlissencephaly

Pediatr Neurol. 1998 Apr;18(4):362-5. doi: 10.1016/s0887-8994(97)00213-0.

Abstract

An inbred Arab family with three neonates affected by microlissencephaly syndrome is reported. Brain magnetic resonance imaging in the index case revealed very thin brain mantle with agyria-pachygyria, agenesis of the corpus callosum, and hypoplasia of the brainstem and cerebellum. All three neonates had microcephaly, arthrogryposis multiplex congenita, and micropenis. The presence of three affected newborn infants in a consanguineous family suggests an autosomal-recessive mode of inheritance of this syndrome. The spectrum of microlissencephaly syndrome is reviewed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple*
  • Agenesis of Corpus Callosum
  • Arabs
  • Arthrogryposis / pathology
  • Brain / abnormalities*
  • Brain / pathology
  • Cerebellum / abnormalities
  • Consanguinity
  • Corpus Callosum / pathology
  • Fatal Outcome
  • Genitalia, Male / abnormalities
  • Humans
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Microcephaly / pathology*
  • Pedigree
  • Syndrome