title: Further magnetic resonance imaging (MRI) brain delineation of 49,XXXXY syndrome.
abstract: A rare sex chromosome aneuploidy syndrome, 49,XXXXY syndrome is characterized by mental retardation with severe learning difficulties, craniofacial and skeletal abnormalities, hypogonadism, and congenital heart disease. The authors describe a 30-month-old boy with 49,XXXXY syndrome, global developmental delay and white matter changes in the brain magnetic resonance imaging. They reviewed the literature to delineate a specific magnetic resonance imaging pattern of 49,XXXXY syndrome.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Riyadh Military Hospital, Riyadh, Saudi Arabia. btabarki@hotmail.com
authors.forename: Brahim
authors.initials: B
authors.lastname: Tabarki
authors.forename: Shatha Al
authors.initials: SA
authors.lastname: Shafi
authors.forename: Nawal Al
authors.initials: NA
authors.lastname: Adwani
authors.forename: Saad Al
authors.initials: SA
authors.lastname: Shahwan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D041321:Chromosomes, Human, X; D003241:Consanguinity; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations