A Case Of Barber-Say Syndrome In A Male Japanese Newborn

Kenichi Suga,Miki Shono,Aya Goji,Sato Matsuura,Miki Inoue,Masami Kawahito,Michiyo Kinoshita,Misa Takeda,Kazuhiro Mori

CLINICAL CASE REPORTS（2014）

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摘要

We reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cupshaped 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.

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关键词

Barber-Say syndrome, cutis laxa, macrostomia, subretinal drusenoid deposit

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