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

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. (C) 1996 Wiley-Liss, Inc.