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

KEY CLINICAL MESSAGE: 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...

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Detalles Bibliográficos
Autores principales: Suga, Kenichi, Shono, Miki, Goji, Aya, Matsuura, Sato, Inoue, Miki, Kawahito, Masami, Kinoshita, Michiyo, Takeda, Misa, Mori, Kazuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302630/
https://www.ncbi.nlm.nih.gov/pubmed/25614816
http://dx.doi.org/10.1002/ccr3.128
Descripción
Sumario:KEY CLINICAL MESSAGE: 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.

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