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
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author Suga, Kenichi
Shono, Miki
Goji, Aya
Matsuura, Sato
Inoue, Miki
Kawahito, Masami
Kinoshita, Michiyo
Takeda, Misa
Mori, Kazuhiro
author_facet Suga, Kenichi
Shono, Miki
Goji, Aya
Matsuura, Sato
Inoue, Miki
Kawahito, Masami
Kinoshita, Michiyo
Takeda, Misa
Mori, Kazuhiro
author_sort Suga, Kenichi
collection PubMed
description 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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spelling pubmed-43026302015-01-22 A case of Barber-Say syndrome in a male Japanese newborn Suga, Kenichi Shono, Miki Goji, Aya Matsuura, Sato Inoue, Miki Kawahito, Masami Kinoshita, Michiyo Takeda, Misa Mori, Kazuhiro Clin Case Rep Case Reports 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. Blackwell Publishing Ltd 2014-10 2014-09-04 /pmc/articles/PMC4302630/ /pubmed/25614816 http://dx.doi.org/10.1002/ccr3.128 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Suga, Kenichi
Shono, Miki
Goji, Aya
Matsuura, Sato
Inoue, Miki
Kawahito, Masami
Kinoshita, Michiyo
Takeda, Misa
Mori, Kazuhiro
A case of Barber-Say syndrome in a male Japanese newborn
title A case of Barber-Say syndrome in a male Japanese newborn
title_full A case of Barber-Say syndrome in a male Japanese newborn
title_fullStr A case of Barber-Say syndrome in a male Japanese newborn
title_full_unstemmed A case of Barber-Say syndrome in a male Japanese newborn
title_short A case of Barber-Say syndrome in a male Japanese newborn
title_sort case of barber-say syndrome in a male japanese newborn
topic Case Reports
url 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
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