A male phenotype with Aicardi syndrome.
Aicardi syndrome is a rare neurodevelopmental condition that occurs almost exclusively in women. We report a second male phenotype and 47,XXY karyotype with a typical presentation of the Aicardi syndrome including a midline arachnoid cyst.
Zubairi
Mohammad S
MS
Michael G. DeGroote School of Medicine, McMaster University, Hamilton, Ontario, Canada.
Carter
Ronald F
RF
Ronen
Gabriel M
GM
D000015:Abnormalities, Multiple; D000293:Adolescent; D061085:Agenesis of Corpus Callosum; D000782:Aneuploidy; D016080:Arachnoid Cysts / Q000473:pathology; D041321:Chromosomes, Human, X; D003337:Corpus Callosum / Q000473:pathology; D002658:Developmental Disabilities; D004569:Electroencephalography; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012640:Seizures; D025064:Sex Chromosome Disorders; D013577:Syndrome; D014057:Tomography, X-Ray Computed