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

doi:10.1002/ccr3.128

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

Clin Case Rep. 2014 Oct;2(5):224-7. doi: 10.1002/ccr3.128. Epub 2014 Sep 4.

Authors

Kenichi Suga¹, Miki Shono¹, Aya Goji¹, Sato Matsuura¹, Miki Inoue¹, Masami Kawahito¹, Michiyo Kinoshita², Misa Takeda², Kazuhiro Mori¹

Affiliations

¹ Department of Pediatrics, Tokushima Prefectural Central Hospital Tokushima, Japan.
² Department of Ophthalmology, Tokushima Prefectural Central Hospital Tokushima, Japan.

Abstract

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.

Keywords: Barber-Say syndrome; cutis laxa; macrostomia; subretinal drusenoid deposit.

Publication types

Case Reports