Microlissencephaly with cardiac, spinal and urogenital defects

Clin Dysmorphol. 2001 Jul;10(3):203-8. doi: 10.1097/00019605-200107000-00010.

Abstract

We describe two children with a brain defect similar to that described as 'microlissencephaly', as defined in Barkovich et aL [(1998) Neuroped 29: 113-119]. Concomitant malformations (cardiac, spinal, urogenital) may represent components of a wider syndrome complex; alternatively, or additionally, there may have been a valproate teratogenic effect. The inheritance is likely to be autosomal recessive, although X-linkage cannot be excluded.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Drug-Induced
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Anticonvulsants / adverse effects
  • Brain / abnormalities*
  • Fetal Diseases / pathology
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / pathology*
  • Humans
  • Infant
  • Male
  • Microcephaly / genetics
  • Microcephaly / pathology
  • Pedigree
  • Phenotype
  • Spine / abnormalities*
  • Urogenital Abnormalities / genetics
  • Urogenital Abnormalities / pathology*
  • Valproic Acid / adverse effects

Substances

  • Anticonvulsants
  • Valproic Acid