Syndromes with lissencephaly. I: Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly

Am J Med Genet. 1984 Jul;18(3):509-26. doi: 10.1002/ajmg.1320180320.

Abstract

Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller-Dieker syndrome with or without deficiency of 17p13, Norman-Roberts syndrome, and isolated lissencephaly sequence.

MeSH terms

  • Abnormalities, Multiple / genetics
  • Brain / abnormalities*
  • Brain / pathology
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, 16-18
  • Follow-Up Studies
  • Humans
  • Hydrocephalus / genetics*
  • Hydrocephalus / pathology
  • Infant
  • Infant, Newborn
  • Microcephaly / genetics*
  • Microcephaly / pathology
  • Phenotype