A case of Barber-Say syndrome in a male Japanese newborn
نویسندگان
چکیده
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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عنوان ژورنال:
دوره 2 شماره
صفحات -
تاریخ انتشار 2014