{
    "abstract": "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.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.\nthe 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.\nthis 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.",
    "authors": [
        {
            "affiliation": "Division of Pediatrics, Department of Health Science, University of Piemonte Orientale, Novara, Italy.",
            "firstname": "B",
            "initials": "B",
            "lastname": "Ciacchini"
        },
        {
            "affiliation": "NESMOS Department, Faculty of Medicine and Psychology, Sant'Andrea University Hospital, Sapienza University of Rome, Rome, Italy.",
            "firstname": "G",
            "initials": "G",
            "lastname": "Di Nardo"
        },
        {
            "affiliation": "Pediatric and Pediatric Emergency Unit, \"U. Bosio\" Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.",
            "firstname": "M",
            "initials": "M",
            "lastname": "Marin"
        },
        {
            "affiliation": "Pediatric and Pediatric Emergency Unit, \"U. Bosio\" Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.",
            "firstname": "E",
            "initials": "E",
            "lastname": "Borali"
        },
        {
            "affiliation": "Pediatric Surgery, \"U. Bosio\" Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.",
            "firstname": "M",
            "initials": "M",
            "lastname": "Caraccia"
        },
        {
            "affiliation": "Pediatric and Pediatric Emergency Unit, \"U. Bosio\" Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.",
            "firstname": "R",
            "initials": "R",
            "lastname": "Mogni"
        },
        {
            "affiliation": "Pediatric and Pediatric Emergency Unit, \"U. Bosio\" Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.",
            "firstname": "F",
            "initials": "F",
            "lastname": "Cairello"
        },
        {
            "affiliation": "Division of Pediatrics, Department of Health Science, University of Piemonte Orientale, Novara, Italy.",
            "firstname": "I",
            "initials": "I",
            "lastname": "Rabbone"
        },
        {
            "affiliation": "Department of Clinical and Biological Sciences, University of Torino, Turin, Italy.",
            "firstname": "G B",
            "initials": "GB",
            "lastname": "Ferrero"
        },
        {
            "affiliation": "Pediatric Surgery, \"U. Bosio\" Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.",
            "firstname": "A",
            "initials": "A",
            "lastname": "Pini Prato"
        },
        {
            "affiliation": "Pediatric and Pediatric Emergency Unit, \"U. Bosio\" Center for Digestive Diseases, The Children Hospital, AO SS Antonio e Biagio e C. Arrigo, Alessandria, Italy.",
            "firstname": "E",
            "initials": "E",
            "lastname": "Felici"
        }
    ],
    "conclusions": "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.",
    "copyrights": "\u00a9 2023 Ciacchini, Di Nardo, Marin, Borali, Caraccia, Mogni, Cairello, Rabbone, Ferrero, Pini Prato and Felici.",
    "doi": "10.3389/fped.2023.1160147\n10.1542/peds.2013-3189\n10.1146/annurev-genom-091212-153523\n10.1093/hmg/ddw191\n10.1002/humu.20955\n10.1007/s00247-004-1306-5\n10.1002/1096-8628(20001113)95:2<135::AID-AJMG8>3.0.CO;2-J\n10.1136/jmg.2007.054460",
    "journal": "Frontiers in pediatrics",
    "keywords": [
        "cardio-facio-cutaneous syndrome (CFCS)",
        "gastroenterology",
        "nutrition",
        "pediatric",
        "surgery"
    ],
    "methods": null,
    "publication_date": "2023-05-04",
    "pubmed_id": "37138575\n25180280\n20301365\n23875798\n27412009\n19206169\n15490149\n11078563\n18039946",
    "results": null,
    "title": "Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome.",
    "xml": "<Element 'PubmedArticle' at 0x788504e977e0>"
}