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