{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T04:15:39Z","timestamp":1769314539711,"version":"3.49.0"},"reference-count":30,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2016,6,16]],"date-time":"2016-06-16T00:00:00Z","timestamp":1466035200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras\/Mitogen-Activated Protein Kinase (RAS\/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well known, the prenatal and neonatal characteristics are less recognized. Noonan syndrome, Costello syndrome, and CFCS diagnosis should be considered in pregnancies with a normal karyotype and in the case of ultrasound findings such as increased nuchal translucency, polyhydramnios, macrosomia and cardiac defect. Because all the RASopathies share similar clinical features, their molecular characterization is complex, time consuming and expensive. Here we report a case of CFCS prenatally diagnosed through Next Generation Prenatal Diagnosis (NGPD), a new targeted approach that allows us to concurrently investigate all the genes involved in the RASophaties.<\/jats:p>","DOI":"10.3390\/ijms17060952","type":"journal-article","created":{"date-parts":[[2016,6,16]],"date-time":"2016-06-16T10:23:20Z","timestamp":1466072600000},"page":"952","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Next Generation Sequencing Approach in a Prenatal Case of Cardio-Facio-Cutaneus Syndrome"],"prefix":"10.3390","volume":"17","author":[{"given":"Mafalda","family":"Mucciolo","sequence":"first","affiliation":[{"name":"Department of Human Genetics, Altamedica Fetal-Maternal Medical Centre, 00198 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Dello Russo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Altamedica Fetal-Maternal Medical Centre, 00198 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"D\u2019Emidio","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Altamedica Fetal-Maternal Medical Centre, 00198 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alvaro","family":"Mesoraca","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Altamedica Fetal-Maternal Medical Centre, 00198 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudio","family":"Giorlandino","sequence":"additional","affiliation":[{"name":"Department of Prenatal Diagnosis, Altamedica Fetal-Maternal Medical Centre, 00198 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2016,6,16]]},"reference":[{"key":"ref_1","first-page":"521","article-title":"Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome","volume":"164","author":"Siegel","year":"2011","journal-title":"Br. 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