{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T22:35:18Z","timestamp":1793399718237,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T00:00:00Z","timestamp":1397001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>There is limited information available related to the perinatal course of cardiofaciocutaneous syndrome (CFC) compared to other syndromes within the Ras\u2013MAP kinase pathway (rasopathies) such as Noonan and Costello syndrome. Retrospective chart review revealed four cases of CFC with molecular confirmation between 2005 and 2012 at Hawaii's largest obstetric and pediatric referral center. We report on details of the prenatal, neonatal, and infancy course and long\u2010term follow\u2010up beyond infancy in two patients. This report includes novel features including systemic hypertension, hyponatremia, and chronic respiratory insufficiency, not previously reported in CFC. We provide pathologic diagnosis of loose anagen hair in one patient. Some of these findings have been reported in the other rasopathies, documenting further clinical overlap among these conditions. Molecular testing can be useful to differentiate CFC from other rasopathies and in counseling families about potential complications and prognosis. We recommend a full phenotypic evaluation including echocardiogram, renal ultrasound, brain imaging, and ophthalmology examination. We additionally recommend close follow\u2010up of blood pressure, pulmonary function, and monitoring for electrolyte disturbance and extra\u2010vascular fluid shifts. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36558","type":"journal-article","created":{"date-parts":[[2014,4,9]],"date-time":"2014-04-09T20:58:49Z","timestamp":1397077129000},"page":"2036-2042","source":"Crossref","is-referenced-by-count":9,"title":["The perinatal presentation of cardiofaciocutaneous syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Kara N.","family":"Wong Ramsey","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of Hawaii Honolulu Hawaii"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew H.","family":"Loichinger","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Hawaii Honolulu Hawaii"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas P.","family":"Slavin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Hawaii Honolulu Hawaii"},{"name":"Kapiolani Medical Specialists Honolulu Hawaii"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheree","family":"Kuo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Hawaii Honolulu Hawaii"},{"name":"Kapiolani Medical Specialists Honolulu Hawaii"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurie H.","family":"Seaver","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Hawaii Honolulu Hawaii"},{"name":"Kapiolani Medical Specialists Honolulu Hawaii"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35292"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30295"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054460"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200210000-00014"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.425"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0558-0"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31815"},{"key":"e_1_2_5_9_1","first-page":"167","article-title":"Severe neonatal manifestations of Costello syndrome","volume":"453","author":"Lo IF","year":"2008","journal-title":"J Med Genet"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10923"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31658"},{"key":"e_1_2_5_12_1","unstructured":"National Research Council 2005 The National Academies Press Washington DC"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1749"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33787"},{"key":"e_1_2_5_15_1","volume-title":"GeneReviews\u2122 [Internet]","author":"Rauen KA","year":"2007"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250303"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042796"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-007-0603-2"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1891"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36558","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36558","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T05:31:11Z","timestamp":1696570271000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36558"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,9]]},"references-count":19,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1002\/ajmg.a.36558"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36558","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,9]]}}}