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 | F Encha Razavi, J C Larroche, J Roume, M Gonzales, H C Kondo, N Mulliez |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 62
Issue 1
Pg. 16-22
(Mar 01 1996)
ISSN: 0148-7299 [Print] United States |
PMID | 8779318
(Publication Type: Case Reports, Journal Article)
|
Topics |
- Abnormalities, Multiple
- Brain
(abnormalities, embryology)
- Brain Edema
(embryology)
- Female
- Fetus
(abnormalities)
- Humans
- Male
- Syndrome
|