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

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.
AuthorsF Encha Razavi, J C Larroche, J Roume, M Gonzales, H C Kondo, N Mulliez
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 62 Issue 1 Pg. 16-22 (Mar 01 1996) ISSN: 0148-7299 [Print] United States
PMID8779318 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple
  • Brain (abnormalities, embryology)
  • Brain Edema (embryology)
  • Female
  • Fetus (abnormalities)
  • Humans
  • Male
  • Syndrome

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