{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T23:34:26Z","timestamp":1793230466769,"version":"4.5.0"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,11,30]],"date-time":"2016-11-30T00:00:00Z","timestamp":1480464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:p>Baraitser\u2013Winter cerebrofrontofacial syndrome (<jats:styled-content style=\"fixed-case\">BWCFF<\/jats:styled-content>) (<jats:styled-content style=\"fixed-case\">BRWS<\/jats:styled-content>; <jats:styled-content style=\"fixed-case\">MIM<\/jats:styled-content> #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging\/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria\/lissencephaly) and ocular colobomata are also suggestive of this syndrome. Other features include moderate short stature, contractures, congenital cardiac disease and genitourinary malformations. <jats:styled-content style=\"fixed-case\">BWCFF<\/jats:styled-content> is caused by missense mutations in the cytoplasmic beta\u2010 and gamma\u2010actin genes <jats:italic><jats:styled-content style=\"fixed-case\">ACTB<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">ACTG1<\/jats:styled-content><\/jats:italic>. We provide an overview of the clinical characteristics (including some novel findings in four recently diagnosed patients), diagnosis, management, mutation spectrum and genetic counselling.<\/jats:p>","DOI":"10.1111\/cge.12864","type":"journal-article","created":{"date-parts":[[2016,9,14]],"date-time":"2016-09-14T04:32:45Z","timestamp":1473827565000},"page":"3-9","source":"Crossref","is-referenced-by-count":41,"title":["Baraitser\u2013Winter cerebrofrontofacial syndrome"],"prefix":"10.1111","volume":"92","author":[{"given":"T.M.","family":"Yates","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of Glasgow  Glasgow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.L.","family":"Turner","sequence":"additional","affiliation":[{"name":"Peninsula Clinical Genetics Service Royal Devon and Exeter Hospital  Exeter 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