{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:09:46Z","timestamp":1764493786400},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,9,4]],"date-time":"2014-09-04T00:00:00Z","timestamp":1409788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title><jats:p>We reported a case of Barber\u2010Say syndrome (<jats:styled-content style=\"fixed-case\">BSS<\/jats:styled-content>) in a Japanese newborn. Distinctive features of <jats:styled-content style=\"fixed-case\">BSS<\/jats:styled-content> were found; macrostomia, gingival dysplasia, cup\u2010shaped low\u2010set ears, wrinkling redundant skin, and hypertrichosis. Fundus showed subretinal drusenoid deposits, a novel finding of <jats:styled-content style=\"fixed-case\">BSS<\/jats:styled-content>. Genetic analysis is underway using next\u2010generation genome sequencing and microarray analysis.<\/jats:p>","DOI":"10.1002\/ccr3.128","type":"journal-article","created":{"date-parts":[[2014,9,4]],"date-time":"2014-09-04T19:55:13Z","timestamp":1409860513000},"page":"224-227","source":"Crossref","is-referenced-by-count":7,"title":["A case of Barber\u2010Say syndrome in a male Japanese newborn"],"prefix":"10.1002","volume":"2","author":[{"given":"Kenichi","family":"Suga","sequence":"first","affiliation":[{"name":"Department of Pediatrics Tokushima Prefectural Central Hospital Tokushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miki","family":"Shono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokushima Prefectural Central Hospital Tokushima Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Goji","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tokushima Prefectural 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