Open AccessA case of Barber‐Say syndrome in a male Japanese newborn
Author(s) -
Suga Kenichi,
Shono Miki,
Goji Aya,
Matsuura Sato,
Inoue Miki,
Kawahito Masami,
Kinoshita Michiyo,
Takeda Misa,
Mori Kazuhiro
Publication year - 2014
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.128
Subject(s) - medicine , pediatrics
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.