A case of Barber-Say syndrome in a male Japanese newborn.

日本男性新生儿 Barber - Say 综合征一例。

• 发表时间: Oct 2014
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.128
• PMID: 25614816
• 文章类型: Case Reports
• 作者列表: Suga K,Shono M,Goji A,Matsuura S,Inoue M,Kawahito M,Kinoshita M,Takeda M,Mori K

关键词: Barber-Say syndrome; cutis laxa; macrostomia; subretinal drusenoid deposit

Abstract

UNASSIGNED: 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.

摘要

■我们报道了一例日本新生儿的Barber-Say综合征（BSS）。发现了BSS的独特特征；大口，牙龈发育不良，杯形低耳朵，多余的皮肤起皱，和多毛症。眼底显示视网膜下的关节软骨样沉积，BSS的新发现。正在使用下一代基因组测序和微阵列分析进行遗传分析。