{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T01:56:42Z","timestamp":1791079002549,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,9,27]],"date-time":"2012-09-27T00:00:00Z","timestamp":1348704000000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cardio\u2010facio\u2010cutaneous syndrome (<jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content>) is a <jats:styled-content style=\"fixed-case\">RASopathy<\/jats:styled-content> that is characterized by craniofacial, dermatologic, gastrointestinal, ocular, cardiac, and neurologic anomalies. <jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content> is caused by activating mutations in the Ras\/mitogen\u2010activated protein kinase (<jats:styled-content style=\"fixed-case\">MAPK<\/jats:styled-content>) signaling pathway that is downstream of receptor tyrosine kinase (<jats:styled-content style=\"fixed-case\">RTK<\/jats:styled-content>) signaling. <jats:styled-content style=\"fixed-case\">RTK<\/jats:styled-content> signaling is known to play a central role in craniofacial and dental development, but to date, no studies have systematically examined individuals with <jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content> to define key craniofacial and dental features. To fill this critical gap in our knowledge, we evaluated the craniofacial and dental phenotype of a large cohort (<jats:italic>n<\/jats:italic>\u2009=\u200932) of <jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content> individuals who attended the 2009 and 2011 <jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content> International Family Conferences. We quantified common craniofacial features in <jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content> which include macrocephaly, bitemporal narrowing, convex facial profile, and hypoplastic supraorbital ridges. In addition, there is a characteristic dental phenotype in <jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content> syndrome that includes malocclusion with open bite, posterior crossbite, and a high\u2010arched palate. This thorough evaluation of the craniofacial and dental phenotype in <jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content> individuals provides a step forward in our understanding of the role of <jats:styled-content style=\"fixed-case\">RTK<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">MAPK<\/jats:styled-content> signaling in human craniofacial development and will aid clinicians who treat patients with <jats:styled-content style=\"fixed-case\">CFC<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/cge.12005","type":"journal-article","created":{"date-parts":[[2012,9,4]],"date-time":"2012-09-04T13:24:05Z","timestamp":1346765045000},"page":"539-544","source":"Crossref","is-referenced-by-count":24,"title":["Craniofacial and dental development in cardio\u2010facio\u2010cutaneous syndrome: the importance of Ras signaling 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