title: A case of Baraitser-Winter syndrome with unusual brain MRI findings: pachygyria, subcortical-band heterotopia, and periventricular heterotopia.
abstract: Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of this syndrome. We report the case of a Japanese boy suffering from BaWS; the patient's brain magnetic resonance imaging scan revealed pachygyria, SBH, and periventricular heterotopia. However, the results of the genome-wide array comparative genomic hybridization did not reveal any chromosomal rearrangements.
authors.affiliation: Department of Neurology, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu-machi, Shibukawa, Gunma 377-8577, Japan. shiihara-ind@umin.net
authors.forename: Takashi
authors.initials: T
authors.lastname: Shiihara
authors.forename: Ken-ichi
authors.initials: K
authors.lastname: Maruyama
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Yamada
authors.forename: Akira
authors.initials: A
authors.lastname: Nishimura
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000473:pathology*; D055028:Comparative Genomic Hybridization; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D013577:Syndrome