{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T16:27:01Z","timestamp":1789576021652,"version":"build-2803163510"},"reference-count":36,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T00:00:00Z","timestamp":1677024000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Fondazione Bambino Ges\u00f9 (Vite Coraggiose)","award":["CCR-2017-23669081"],"award-info":[{"award-number":["CCR-2017-23669081"]}]},{"name":"Fondazione Bambino Ges\u00f9 (Vite Coraggiose)","award":["RF-2018-12366931"],"award-info":[{"award-number":["RF-2018-12366931"]}]},{"name":"Fondazione Bambino Ges\u00f9 (Vite Coraggiose)","award":["GR-2019-12371203"],"award-info":[{"award-number":["GR-2019-12371203"]}]},{"name":"Italian Ministry of Health","award":["CCR-2017-23669081"],"award-info":[{"award-number":["CCR-2017-23669081"]}]},{"name":"Italian Ministry of Health","award":["RF-2018-12366931"],"award-info":[{"award-number":["RF-2018-12366931"]}]},{"name":"Italian Ministry of Health","award":["GR-2019-12371203"],"award-info":[{"award-number":["GR-2019-12371203"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Pathogenic variants in RASA1 are typically associated with a clinical condition called \u201ccapillary malformation-arteriovenous malformation\u201d (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variability, even within families. In CM-AVM syndrome, multifocal capillary and arteriovenous malformations are mainly localized in the central nervous system, spine and skin. Although CM-AVM syndrome has been widely described in the literature, only 21 cases with prenatal onset of clinical features have been reported thus far. Here, we report four pediatric cases of molecularly confirmed CM-AVM syndrome which manifested during the prenatal period. Polyhydramnios, non-immune hydrops fetalis and chylothorax are only a few possible aspects of this condition, but a correct interpretation of these prenatal signs is essential due to the possible fatal consequences of unrecognized encephalic and thoracoabdominal deep vascular malformations in newborns and in family members carrying the same RASA1 variant.<\/jats:p>","DOI":"10.3390\/genes14030549","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T05:29:46Z","timestamp":1677043786000},"page":"549","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome"],"prefix":"10.3390","volume":"14","author":[{"given":"Emanuele","family":"Coccia","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"},{"name":"Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater StudiorumUniversity of Bologna, 40126 Bologna, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Valeri","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"},{"name":"Paediatrics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Zuntini","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5033-7854","authenticated-orcid":false,"given":"Stefano Giuseppe","family":"Caraffi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0976-1258","authenticated-orcid":false,"given":"Francesca","family":"Peluso","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Pagliai","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonietta","family":"Vezzani","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zaira","family":"Pietrangiolillo","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Leo","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nives","family":"Melli","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Fiorini","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Greco","sequence":"additional","affiliation":[{"name":"Postgraduate School of Paediatrics, University of Modena and Reggio Emilia, 41121 Modena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Romana","family":"Lepri","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Pisaneschi","sequence":"additional","affiliation":[{"name":"Translational Cytogenomics Research Unit, Laboratory of Medical Genetics, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00146 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabella","family":"Marozza","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Medical Genetics Unit, Department of Experimental and Clinical Biomedical Sciences \u201cMario Serio\u201d, University of Florence, 50121 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5690-6504","authenticated-orcid":false,"given":"Diana","family":"Carli","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, Regina Margherita Children\u2019s Hospital, Azienda Ospedaliero-Universitaria di Torino, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Mussa","sequence":"additional","affiliation":[{"name":"Department of Public Health and Pediatric Sciences, Regina Margherita Children\u2019s Hospital, Azienda Ospedaliero-Universitaria di Torino, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1993-8018","authenticated-orcid":false,"given":"Francesca Clementina","family":"Radio","sequence":"additional","affiliation":[{"name":"Molecular Genetics and Functional Genomics, Bambino Ges\u00f9 Children\u2019s 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