Familial lissencephaly with cleft palate and severe cerebellar hypoplasia

Citation
B. Kerner et al., Familial lissencephaly with cleft palate and severe cerebellar hypoplasia, AM J MED G, 87(5), 1999, pp. 440-445
Citations number
25
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
87
Issue
5
Year of publication
1999
Pages
440 - 445
Database
ISI
SICI code
0148-7299(199912)87:5<440:FLWCPA>2.0.ZU;2-L
Abstract
Lissencephaly is a brain malformation characterized by absence of gyral for mation, resulting in a smooth brain surface, Histologic study shows severe anomalies of cerebral cortical development. Several lissencephaly syndromes have been described. Here we report a familial syndrome of Lissencephaly, cleft palate, diffuse agyria, and severe cerebellar hypoplasia. Microscopic examination of the abnormally thick cerebral cortex showed absence of cort ical layering, with preservation of the pia-glial barrier. This is the firs t report of recurrent lissencephaly with cleft palate and severe cerebellar hypoplasia in which these unique neuropathology findings are described. Au tosomal recessive inheritance is suggested by recurrence in sibs within the same family, but germ cell mosaicism for a dominant mutation is not exclud ed. Am. J. Med. Genet. 87:440-445, 1999. (C) 1999 Wiley-Liss, Inc.