{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:26:19Z","timestamp":1789259179837,"version":"build-2803163510"},"reference-count":29,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"vor","delay-in-days":365,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008519","name":"University of Arkansas for Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008519","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1 RR029884"],"award-info":[{"award-number":["UL1 RR029884"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100015317","name":"Translational Research Institute, University of Arkansas for Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015317","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["gimjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1016\/j.gim.2022.03.016","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T00:56:42Z","timestamp":1649897802000},"page":"1503-1511","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["A clinical scoring system for early onset (neonatal) Marfan syndrome"],"prefix":"10.1016","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8235-6200","authenticated-orcid":false,"given":"Yuri A.","family":"Zarate","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaine A.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Blackshare","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia A.","family":"Algaze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brynn S.","family":"Connor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine E.","family":"Yutzey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin M.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn Nicole","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"II","given":"Ronnie Thomas","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.gim.2022.03.016_bib1","series-title":"GeneReviews\u00ae","article-title":"FBN1-related Marfan syndrome","author":"Dietz","year":"1993"},{"issue":"6","key":"10.1016\/j.gim.2022.03.016_bib2","first-page":"888","article-title":"Diagnosis and management of infantile Marfan syndrome","volume":"86","author":"Morse","year":"1990","journal-title":"Pediatrics"},{"issue":"3","key":"10.1016\/j.gim.2022.03.016_bib3","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/humu.10113","article-title":"Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies","volume":"20","author":"Robinson","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.gim.2022.03.016_bib4","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1186\/s12887-016-0598-6","article-title":"A\u00a0novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum","volume":"16","author":"Peng","year":"2016","journal-title":"BMC Pediatr"},{"issue":"1","key":"10.1016\/j.gim.2022.03.016_bib5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.30979","article-title":"Severe infantile Marfan syndrome versus neonatal Marfan syndrome","volume":"139","author":"Hennekam","year":"2005","journal-title":"Am J Med Genet A"},{"issue":"14","key":"10.1016\/j.gim.2022.03.016_bib6","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1080\/14767058.2018.1552935","article-title":"Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review","volume":"33","author":"Veiga-Fern\u00e1ndez","year":"2020","journal-title":"J\u00a0Matern Fetal Neonatal Med"},{"issue":"3","key":"10.1016\/j.gim.2022.03.016_bib7","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U","article-title":"Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene","volume":"62","author":"Putnam","year":"1996","journal-title":"Am J Med Genet"},{"issue":"3","key":"10.1016\/j.gim.2022.03.016_bib8","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1203\/PDR.0b013e3182097219","article-title":"Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year","volume":"69","author":"Stheneur","year":"2011","journal-title":"Pediatr Res"},{"issue":"3","key":"10.1016\/j.gim.2022.03.016_bib9","doi-asserted-by":"crossref","first-page":"454","DOI":"10.1086\/520125","article-title":"Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study","volume":"81","author":"Faivre","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.gim.2022.03.016_bib10","first-page":"86","article-title":"Early-onset Marfan syndrome: a case series","volume":"8","author":"Ardhanari","year":"2019","journal-title":"J\u00a0Pediatr Genet"},{"key":"10.1016\/j.gim.2022.03.016_bib11","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2013-202438","article-title":"Neonatal Marfan syndrome: a successful early multidisciplinary approach","volume":"2014","author":"Amado","year":"2014","journal-title":"BMJ Case Rep"},{"issue":"7","key":"10.1016\/j.gim.2022.03.016_bib12","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pmed.1000097","article-title":"Preferred Reporting Items for Systematic Reviews and Meta-Analyses: the PRISMA statement","volume":"6","author":"Moher","year":"2009","journal-title":"PLoS Med"},{"issue":"18","key":"10.1016\/j.gim.2022.03.016_bib13","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1016\/0002-9149(90)90979-B","article-title":"Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome","volume":"65","author":"Geva","year":"1990","journal-title":"Am J Cardiol"},{"issue":"3","key":"10.1016\/j.gim.2022.03.016_bib14","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/0002-9149(83)90138-8","article-title":"The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age","volume":"52","author":"Sisk","year":"1983","journal-title":"Am J Cardiol"},{"issue":"1","key":"10.1016\/j.gim.2022.03.016_bib15","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1542\/peds.2008-0703","article-title":"Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations","volume":"123","author":"Faivre","year":"2009","journal-title":"Pediatrics"},{"issue":"S 02","key":"10.1016\/j.gim.2022.03.016_bib16","doi-asserted-by":"crossref","first-page":"S74","DOI":"10.1055\/s-0039-1691770","article-title":"Neonatal Marfan syndrome","volume":"36","author":"Tognato","year":"2019","journal-title":"Am J Perinatol"},{"key":"10.1016\/j.gim.2022.03.016_bib17","article-title":"A\u00a0case of neonatal Marfan syndrome: a management conundrum and the role of a multidisciplinary team","volume":"2017","author":"Carande","year":"2017","journal-title":"Case Rep Pediatr"},{"issue":"1","key":"10.1016\/j.gim.2022.03.016_bib18","doi-asserted-by":"crossref","first-page":"7","DOI":"10.5090\/kjtcs.2015.48.1.7","article-title":"Surgical management of mitral regurgitation in patients with Marfan syndrome during infancy and early childhood","volume":"48","author":"Kim","year":"2015","journal-title":"Korean J Thorac Cardiovasc Surg"},{"issue":"5","key":"10.1016\/j.gim.2022.03.016_bib19","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1016\/j.athoracsur.2015.06.115","article-title":"Palliative mitral valve repair during infancy for neonatal Marfan syndrome","volume":"101","author":"Kitahara","year":"2016","journal-title":"Ann Thorac Surg"},{"issue":"2","key":"10.1016\/j.gim.2022.03.016_bib20","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1097\/00019605-200504000-00005","article-title":"Neonatal Marfan syndrome: clinical report and review of the literature","volume":"14","author":"Heide","year":"2005","journal-title":"Clin Dysmorphol"},{"issue":"4","key":"10.1016\/j.gim.2022.03.016_bib21","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1016\/j.jtcvs.2007.12.076","article-title":"Mitral valve replacement in infants and children 5 years of age or younger: evolution in practice and outcome over three decades with a focus on supra-annular prosthesis implantation","volume":"136","author":"Selamet Tierney","year":"2008","journal-title":"J\u00a0Thorac Cardiovasc Surg"},{"issue":"2","key":"10.1016\/j.gim.2022.03.016_bib22","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/j.pedneo.2017.07.005","article-title":"Losartan in combination with propranolol slows the aortic root dilatation in neonatal Marfan syndrome","volume":"59","author":"Liu","year":"2018","journal-title":"Pediatr Neonatol"},{"issue":"4","key":"10.1016\/j.gim.2022.03.016_bib23","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1007\/s00246-012-0593-0","article-title":"Impact of age and gender on cardiac pathology in children and adolescents with Marfan syndrome","volume":"34","author":"Mueller","year":"2013","journal-title":"Pediatr Cardiol"},{"issue":"1","key":"10.1016\/j.gim.2022.03.016_bib24","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1016\/j.jvs.2007.09.016","article-title":"Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome","volume":"47","author":"Xiong","year":"2008","journal-title":"J\u00a0Vasc Surg"},{"issue":"22","key":"10.1016\/j.gim.2022.03.016_bib25","doi-asserted-by":"crossref","first-page":"2061","DOI":"10.1056\/NEJMoa1404731","article-title":"Atenolol versus losartan in children and young adults with Marfan\u2019s syndrome","volume":"371","author":"Lacro","year":"2014","journal-title":"N\u00a0Engl J Med"},{"issue":"9","key":"10.1016\/j.gim.2022.03.016_bib26","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0222506","article-title":"NGS analysis in Marfan syndrome spectrum: combination of rare and common genetic variants to improve genotype-phenotype correlation analysis","volume":"14","author":"Gentilini","year":"2019","journal-title":"PLoS One"},{"issue":"6","key":"10.1016\/j.gim.2022.03.016_bib27","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/humu.20239","article-title":"Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome","volume":"26","author":"Rommel","year":"2005","journal-title":"Hum Mutat"},{"issue":"7","key":"10.1016\/j.gim.2022.03.016_bib28","doi-asserted-by":"crossref","first-page":"799","DOI":"10.3390\/genes11070799","article-title":"Genotype-phenotype correlation in children: the impact of FBN1 variants on pediatric Marfan care","volume":"11","author":"Stark","year":"2020","journal-title":"Genes (Basel)"},{"issue":"1","key":"10.1016\/j.gim.2022.03.016_bib29","first-page":"8","article-title":"Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons","volume":"57","author":"Nijbroek","year":"1995","journal-title":"Am J Hum Genet"}],"container-title":["Genetics in Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360022007067?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1098360022007067?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T01:52:53Z","timestamp":1761097973000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1098360022007067"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":29,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["S1098360022007067"],"URL":"https:\/\/doi.org\/10.1016\/j.gim.2022.03.016","relation":{},"ISSN":["1098-3600"],"issn-type":[{"value":"1098-3600","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A clinical scoring system for early onset (neonatal) Marfan syndrome","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gim.2022.03.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}