title: A case of Barber-Say syndrome in a male Japanese newborn.
abstract: We reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cup-shaped low-set ears, wrinkling redundant skin, and hypertrichosis. Fundus showed subretinal drusenoid deposits, a novel finding of BSS. Genetic analysis is underway using next-generation genome sequencing and microarray analysis.
authors.affiliation: Department of Pediatrics, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Suga
authors.affiliation: Department of Pediatrics, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Shono
authors.affiliation: Department of Pediatrics, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Aya
authors.initials: A
authors.lastname: Goji
authors.affiliation: Department of Pediatrics, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Sato
authors.initials: S
authors.lastname: Matsuura
authors.affiliation: Department of Pediatrics, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Miki
authors.initials: M
authors.lastname: Inoue
authors.affiliation: Department of Pediatrics, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Masami
authors.initials: M
authors.lastname: Kawahito
authors.affiliation: Department of Ophthalmology, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Michiyo
authors.initials: M
authors.lastname: Kinoshita
authors.affiliation: Department of Ophthalmology, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Misa
authors.initials: M
authors.lastname: Takeda
authors.affiliation: Department of Pediatrics, Tokushima Prefectural Central Hospital Tokushima, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Mori
keywords: Barber-Say syndrome; cutis laxa; macrostomia; subretinal drusenoid deposit