{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T06:56:29Z","timestamp":1772348189493,"version":"3.50.1"},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"S 02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Amer J Perinatol"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\n          Objective\u2003The Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue resulting from pathogenic variants of the fibrillin-1 gene (FBN1) with skeletal, cardiac, and ocular involvement.<\/jats:p><jats:p>\n          Study Design\u2003We report on a full-term male neonate, who showed at birth characteristics and dysmorphisms suggestive of nMFS, combined with the detection of severe cardiovascular disease. A multidisciplinary team made up of neonatologists and pediatricians, cardiologists, geneticists, ophtalmologists, physiatrists and physioterapists was formed to manage this patient.<\/jats:p><jats:p>\n          Results and Conclusion\u2003Early diagnosis of this rare condition is critical for adequate treatment and specific follow-up, and impacts significantly on prognosis.<\/jats:p>","DOI":"10.1055\/s-0039-1691770","type":"journal-article","created":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T18:53:29Z","timestamp":1564167209000},"page":"S74-S76","source":"Crossref","is-referenced-by-count":15,"special_numbering":"S","title":["Neonatal Marfan Syndrome"],"prefix":"10.1055","volume":"36","author":[{"given":"Eleonora","family":"Tognato","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Perona","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Aronica","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Bertola","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Cimminelli","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simona","family":"De Vecchi","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine and Urgency, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad Reza","family":"Eshraghy","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruna","family":"Loperfido","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Vivenza","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Manzoni","sequence":"additional","affiliation":[{"name":"Division of Pediatrics and Neonatology, Department of Maternal and Infant Medicine, Degli Infermi Hospital, Biella, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2019,6,25]]},"container-title":["American Journal of Perinatology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1691770.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,26]],"date-time":"2019-07-26T18:53:39Z","timestamp":1564167219000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1691770"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,25]]},"references-count":0,"journal-issue":{"issue":"S 02","published-online":{"date-parts":[[2019,6,25]]},"published-print":{"date-parts":[[2019,7]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1691770","relation":{},"ISSN":["0735-1631","1098-8785"],"issn-type":[{"value":"0735-1631","type":"print"},{"value":"1098-8785","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,25]]}}}