Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: type III lissencephaly syndrome

Am J Med Genet. 1996 Mar 1;62(1):16-22. doi: 10.1002/(SICI)1096-8628(19960301)62:1<16::AID-AJMG4>3.0.CO;2-U.

Abstract

We report on a distinct pattern of primary central nervous system (CNS) degeneration affecting neuronal survival in the brain and spinal cord in 5 fetuses with fetal akinesia sequence (FAS). This neuropathological pattern is characteristic of a lethal entity that we propose calling type III lissencephaly syndrome. Parental consanguinity and the recurrence in sibs support a genetic cause. The mechanism of neuronal death is not yet understood; abnormal apoptosis and/or deficiency in neurotropic factors may be considered possible causes.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Brain / abnormalities*
  • Brain / embryology
  • Brain Edema / embryology
  • Female
  • Fetus / abnormalities*
  • Humans
  • Male
  • Syndrome