{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:02:36Z","timestamp":1789642956132,"version":"4.0.0"},"reference-count":32,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,4]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Cardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly\/mental retardation syndrome named because of a characteristic facies, cardiac anomalies, and ectodermal abnormalities. While considerable literature describes the main features, few studies have documented the frequencies of less common features allowing a greater appreciation of the full phenotype.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>We have analysed clinical data on 38 individuals with CFC and a confirmed mutation in one of the genes known to cause the condition. We provide data on well-established features, and those that are less often described.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Polyhydramnios (77%) and prematurity (49%) were common perinatal issues. 71% of individuals had a cardiac anomaly, the most common being pulmonary valve stenosis (42%), hypertrophic cardiomyopathy (39%), and atrial septal defect (28%). Hair anomalies were also typical: 92% had curly hair, 84% sparse hair, and 86% absent or sparse eyebrows. The most frequent cutaneous features were keratosis pilaris (73%), hyperkeratosis (61%) and nevi (76%). Significant and long lived gastrointestinal dysmotility (71%), seizures (49%), optic nerve hypoplasia (30%) and renal anomalies, chiefly hydronephrosis (20%), were among the less well known issues reported.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>This study reports a broad range of clinical issues in a large cohort of individuals with molecular confirmation of CFC.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2007.054460","type":"journal-article","created":{"date-parts":[[2007,11,26]],"date-time":"2007-11-26T23:58:38Z","timestamp":1196121518000},"page":"249-254","source":"Crossref","is-referenced-by-count":109,"title":["Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations"],"prefix":"10.1136","volume":"45","author":[{"given":"C M","family":"Armour","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J E","family":"Allanson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,11,26]]},"reference":[{"key":"2025100510440351000_45.4.249.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250303"},{"key":"2025100510440351000_45.4.249.2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1749"},{"key":"2025100510440351000_45.4.249.3","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"2025100510440351000_45.4.249.4","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124642"},{"key":"2025100510440351000_45.4.249.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng772"},{"key":"2025100510440351000_45.4.249.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1926"},{"key":"2025100510440351000_45.4.249.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng1939"},{"key":"2025100510440351000_45.4.249.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050450"},{"key":"2025100510440351000_45.4.249.9","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1002\/ajmg.a.31658","article-title":"Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.","volume":"143","author":"Narumi","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025100510440351000_45.4.249.10","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200911"},{"key":"2025100510440351000_45.4.249.11","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<135::AID-AJMG8>3.0.CO;2-J"},{"key":"2025100510440351000_45.4.249.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042796"},{"key":"2025100510440351000_45.4.249.13","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1111\/j.1399-0004.1997.tb02512.x","article-title":"Cardio-facio-cutaneous (CFC) syndrome\u2013a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome.","volume":"52","author":"Wieczorek","year":"1997","journal-title":"Clin Genet"},{"key":"2025100510440351000_45.4.249.14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440531"},{"key":"2025100510440351000_45.4.249.15","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1002\/ajmg.a.31815","article-title":"Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.","volume":"143","author":"Gripp","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025100510440351000_45.4.249.16","first-page":"91","article-title":"V, Moeschler J, Weindling S, Hamilton R. The heartbeat of Costello syndrome: analysis of HRAS mutation positive patients.","volume":"26","author":"Lin","year":"2007","journal-title":"Proc Greenwood Genet Ctr"},{"key":"2025100510440351000_45.4.249.17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10558"},{"key":"2025100510440351000_45.4.249.18","doi-asserted-by":"publisher","DOI":"10.1038\/ng1054"},{"key":"2025100510440351000_45.4.249.19","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960517)63:2<382::AID-AJMG11>3.0.CO;2-G"},{"key":"2025100510440351000_45.4.249.20","unstructured":"Allanson JE . Noonan syndrome. In: Cassidy SB Allanson JE , eds. Management of genetic syndromes, 2nd ed. Wiley-Liss, 2005 :385\u201397."},{"key":"2025100510440351000_45.4.249.21","unstructured":"Lin AE Gripp KW Kerr B . Costello syndrome. In: Cassidy S.B, Allanson JE , eds. Management of genetic syndromes, 2nd ed. Wiley-Liss, 2005 :151\u201361."},{"key":"2025100510440351000_45.4.249.22","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1002\/ajmg.a.20330","article-title":"Costello syndrome and neurological abnormalities.","volume":"123","author":"Delrue","year":"2003","journal-title":"Am J Med Genet A"},{"key":"2025100510440351000_45.4.249.23","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046300"},{"key":"2025100510440351000_45.4.249.24","first-page":"125","article-title":"Cardiofaciocutaneous syndrome: gastrointestinal manifestations.","volume":"26","author":"Allanson","year":"2007","journal-title":"Proc Greenwood Genet Ctr"},{"key":"2025100510440351000_45.4.249.25","doi-asserted-by":"publisher","DOI":"10.1097\/00004694-200301000-00019"},{"key":"2025100510440351000_45.4.249.26","doi-asserted-by":"crossref","first-page":"48","DOI":"10.3928\/0191-3913-19930101-12","article-title":"The ophthalmologic manifestations of the cardio-facio-cutaneous syndrome.","volume":"30","author":"Young","year":"1993","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"2025100510440351000_45.4.249.27","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/ajmg.c.10019","article-title":"Costello syndrome: an overview.","volume":"117","author":"Hennekam","year":"2003","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"2025100510440351000_45.4.249.28","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1002\/ajmg.a.31819","article-title":"Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome.","volume":"143","author":"Al-Rahawan","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025100510440351000_45.4.249.29","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.10.799"},{"key":"2025100510440351000_45.4.249.30","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0b013e3180547136"},{"key":"2025100510440351000_45.4.249.31","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-199909000-00016"},{"key":"2025100510440351000_45.4.249.32","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10241"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.054460","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:44:15Z","timestamp":1759686255000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.054460"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11,26]]},"references-count":32,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2008,4,1]]},"published-print":{"date-parts":[[2008,4]]}},"alternative-id":["10.1136\/jmg.2007.054460"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.054460","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,11,26]]}}}