title: 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.
authors.affiliation: Service Histo-Embryologie, Hôpital Henri Mondor, Créteil, France.
authors.forename: F
authors.initials: F
authors.lastname: Encha Razavi
authors.forename: J C
authors.initials: JC
authors.lastname: Larroche
authors.forename: J
authors.initials: J
authors.lastname: Roume
authors.forename: M
authors.initials: M
authors.lastname: Gonzales
authors.forename: H C
authors.initials: HC
authors.lastname: Kondo
authors.forename: N
authors.initials: N
authors.lastname: Mulliez
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities* / Q000196:embryology; D001929:Brain Edema / Q000196:embryology; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013577:Syndrome