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 cor d in 5 fetuses with fetal akinesia sequence (FAS), This neuropathologi cal pattern is characteristic of a lethal entity that we propose calli ng type III lissencephaly syndrome, Parental consanguinity and the rec urrence in sibs support a genetic cause, The mechanism of neuronal dea th is not yet understood; abnormal apoptosis and/or deficiency in neur otropic factors may be considered possible causes. (C) 1996 Wiley-Liss , Inc.