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It was recently revealed that Schinzel\u2013Giedion syndrome is caused by de novo mutations in <jats:italic>SETBP1<\/jats:italic>, but there are few reports of this syndrome with molecular confirmation. We describe two unrelated Brazilian patients with Schinzel\u2013Giedion syndrome, one of them carrying a novel mutation. We also present a review of clinical manifestations of the syndrome, comparing our cases to patients reported in literature emphasizing the importance of the facial gestalt associated with neurological involvement for diagnostic suspicion of this syndrome. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36789","type":"journal-article","created":{"date-parts":[[2015,2,7]],"date-time":"2015-02-07T10:19:07Z","timestamp":1423304347000},"page":"1039-1046","source":"Crossref","is-referenced-by-count":24,"title":["Schinzel\u2013Giedion syndrome in two Brazilian patients: Report of a novel mutation in <i>SETBP1<\/i> and literature review of the clinical features"],"prefix":"10.1002","volume":"167","author":[{"given":"Ellaine","family":"Carvalho","sequence":"first","affiliation":[{"name":"Genetics Unit Instituto da Crian\u00e7a Hospital das Cl\u00ednicas Faculdade de Medicina da Universidade de S\u00e3o Paulo Sao Paulo 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