{Reference Type}: Case Reports
{Title}: A case of Barber-Say syndrome in a male Japanese newborn.
{Author}: Suga K;Shono M;Goji A;Matsuura S;Inoue M;Kawahito M;Kinoshita M;Takeda M;Mori K;
{Journal}: Clin Case Rep
{Volume}: 2
{Issue}: 5
{Year}: Oct 2014
暂无{DOI}: 10.1002/ccr3.128
{Abstract}: <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.