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A case of Barber‐Say syndrome in a male Japanese newborn |
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| Authors: | Kenichi Suga Miki Shono Aya Goji Sato Matsuura Miki Inoue Masami Kawahito Michiyo Kinoshita Misa Takeda Kazuhiro Mori |
| 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. |
| Keywords: | Barber‐Say syndrome cutis laxa macrostomia subretinal drusenoid deposit |