A case of Barber‐Say syndrome in a male Japanese newborn. Issue 5 (4th September 2014)

• Record Type: Journal Article
• Authors: Suga, Kenichi; Shono, Miki; Goji, Aya; Matsuura, Sato; Inoue, Miki; Kawahito, Masami; Kinoshita, Michiyo; Takeda, Misa; Mori, Kazuhiro
• Is Part Of: Clinical case reports. Volume 2:Issue 5(2014:Oct.)
• Page Start: 224
• Page End: 227
• Publication Date: 2014-09-04
• Subjects: Barber‐Say syndrome -- cutis laxa -- macrostomia -- subretinal drusenoid deposit; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.128
• Languages: English
• ISSNs: 2050-0904

Abstract

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. Key Clinical Message: 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.