Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: Type III lissencephaly syndrome
✍ Scribed by Razavi, Férechté Encha; Larroche, Jeanne Claudie; Roume, Joëlle; Gonzales, Marie; Kondo, Helen C.; Mulliez, Nicole
- Book ID
- 101212938
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 58 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
W e 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 I11 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. o 1996 Wiley-Liss, Inc.