Bilateral perisylvian polymicrogyria in three generations.
A family is described in which bilateral perisylvian polymicrogyria was present in 6 members of 3 consecutive generations. Typical anatomic and clinical findings of the syndrome, with a mild phenotype, were present in the 5 affected women from all 3 generations. More severe impairment was observed in the only affected male individual, a boy, in the third generation. Analysis of the pedigree and severity of the phenotype in the affected boy are consistent with transmission of an X-linked dominant trait, although other patterns of inheritance cannot be ruled out with certainty.
Borgatti
R
R
Institute of Child Neurology and Psychiatry, Scientific Institute H.S. San Raffaele, Milan, Italy.
Triulzi
F
F
Zucca
C
C
Piccinelli
P
P
Balottin
U
U
Carrozzo
R
R
Guerrini
R
R
D000328:Adult; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D007839:Functional Laterality / Q000502:physiology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010375:Pedigree