X-linked female band heterotopia-male lissencephaly syndrome.
We report a family with band heterotopia in a mother and daughter and lissencephaly in a son (X-linked inheritance pattern). Postmortem examination of the boy revealed classical lissencephaly and, among other findings, simplified and discontinuous inferior olives without inferior olivary heterotopia. The absence of inferior olivary heterotopia may distinguish X-linked lissencephaly from other conditions with classic lissencephaly such as Miller-Dieker syndrome.
Berg
M J
MJ
Department of Neurology, University of Rochester Medical Center, NY 14642-8673, USA.
Schifitto
G
G
Powers
J M
JM
Martinez-Capolino
C
C
Fong
C T
CT
Myers
G J
GJ
Epstein
L G
LG
Walsh
C A
CA
D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002552:Cerebral Ventricles / Q000002:abnormalities; D002675:Child, Preschool; D002828:Choristoma; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009847:Olivary Nucleus; D014960:X Chromosome