{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:11:30Z","timestamp":1753891890445,"version":"3.41.2"},"reference-count":9,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T00:00:00Z","timestamp":1681689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>cardio-facio-cutaneous syndrome is a rare genetic disorder affecting less than 900 people in the world. It is mainly characterized by craniofacial, dermatologic and cardiac defects, but also gastroenterological symptoms may be present, ranging from feeding difficulties to gastroesophageal reflux and constipation.<\/jats:p><jats:p>In this report we describe a case of this syndrome characterized by severe feeding and growth difficulties, with a particular focus on the management of gastroenterological complications.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>the patient was a caucasian male affected by Cardio-Facio-Cutaneous syndrome who presented feeding difficulties already a few hours after birth. These symptoms worsened in the following months and lead to a complete growth arrest and malnutrition. He was first treated with a nasogastric tube placement. Subsequently, a laparoscopic Nissen fundoplication and a laparoscopic Stamm gastrostomy were performed. The child was fed with nocturnal enteral nutrition and diurnal oral and enteral nutrition. Eventually the patient resumed feeding validly and regained adequate growth.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>this paper aims to bring to light a complex rare syndrome that infrequently comes to the attention of the pediatricians and whose diagnosis is not always straightforward. We also highlight the possible complications under a gastroenterologic point of view. Our contribution can be helpful to the pediatrician in the first diagnostic suspect of this syndrome. In particular, it is worth highlighting that -in an infant with Noonan-like features- symptoms like suction or swallowing problems, vomiting and feeding difficulties should orient towards the diagnosis of a Cardio-facio-cutaneous syndrome. It is also important to stress that its related gastroenterological issues may lead to severe growth failure and therefore the role of the gastroenterologist is key to manage supplemental feeding and to establish whether a nasogastric or gastrostomic tube placement is necessary.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2023.1160147","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T04:43:35Z","timestamp":1681706615000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome"],"prefix":"10.3389","volume":"11","author":[{"given":"B.","family":"Ciacchini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Di Nardo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Marin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Borali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Caraccia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Mogni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Cairello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Rabbone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. B","family":"Ferrero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Pini Prato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Felici","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2023,4,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e1149","DOI":"10.1542\/peds.2013-3189","article-title":"Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines","volume":"134","author":"Pierpont","year":"2014","journal-title":"Pediatrics"},{"year":"","author":"Rauen","key":"B2"},{"year":"","key":"B3"},{"key":"B4","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1146\/annurev-genom-091212-153523","article-title":"The RASopathies","volume":"14","author":"Rauen","year":"2013","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"R123","DOI":"10.1093\/hmg\/ddw191","article-title":"Pathogenetics of the RASopathies","volume":"25","author":"Tidyman","year":"2016","journal-title":"Hum Mol Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1002\/humu.20955","article-title":"Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum","volume":"30","author":"Sarkozy","year":"2009","journal-title":"Hum Mutat"},{"key":"B7","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1007\/s00247-004-1306-5","article-title":"Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome","volume":"35","author":"Herman","year":"2005","journal-title":"Pediatr Radiol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1002\/1096-8628(20001113)95:2%3C135::AID-AJMG8%3E3.0.CO;2-J","article-title":"Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype","volume":"95","author":"Grebe","year":"2000","journal-title":"Am J Med Genet"},{"key":"B9","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1136\/jmg.2007.054460","article-title":"Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations","volume":"45","author":"Armour","year":"2008","journal-title":"J Med Genet"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1160147\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T04:43:37Z","timestamp":1681706617000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1160147\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,17]]},"references-count":9,"alternative-id":["10.3389\/fped.2023.1160147"],"URL":"https:\/\/doi.org\/10.3389\/fped.2023.1160147","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2023,4,17]]},"article-number":"1160147"}}