%0 Case Reports
%T A case of Barber-Say syndrome in a male Japanese newborn.
%A Suga K
%A Shono M
%A Goji A
%A Matsuura S
%A Inoue M
%A Kawahito M
%A Kinoshita M
%A Takeda M
%A Mori K
%J Clin Case Rep
%V 2
%N 5
%D Oct 2014
%M 25614816
暂无%R 10.1002/ccr3.128
%X <B>UNASSIGNED: </B>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.