{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:26:04Z","timestamp":1789259164815,"version":"build-2803163510"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T00:00:00Z","timestamp":1741564800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Early\u2010onset Marfan syndrome (eoMFS) is a severe and rare form of Marfan syndrome characterized by severe atrioventricular valve insufficiency developing before or shortly after birth. It is unclear which factors (interventions and\/or genotype) influence survival. Forty\u2010one individuals with eoMFS with a fibrillin\u20101 gene (\n                    <jats:italic>FBN1<\/jats:italic>\n                    ) variant in exon 24\u201332 (CRCh37) were included. At the last follow\u2010up, 14\/41 (34%) were alive (8\u2009months\u201018\u2009years) and 27\/41 (66%) were deceased. Median age of death was 1\u2009month and 88% of the deaths occurred before 5\u2009months of age. More individuals alive past the age of 16\u2009months versus those who were deceased before that age had undergone cardiovascular surgery at an older age (13\u2009months, range 3\u201372, vs. 2\u2009months, range 2\u20132,\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.03). Survival was better in those with single amino acid substitutions\/small in\u2010frame deletions than in those with large in\u2010frame deletions (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.007), but variants involving a cysteine substitution in an EGF\u2010like domain versus those involving other amino acids did not significantly influence survival. EoMFS ranges from a (pre\u2010)neonatal life\u2010threatening disorder to a disorder with enhanced survival, creating a window for cardiovascular surgery. Individuals with single amino acid substitutions\/small in\u2010frame deletions had better survival compared to those with variants significantly impacting exon 24\u201332 length.\n                  <\/jats:p>","DOI":"10.1111\/cge.14722","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T00:16:53Z","timestamp":1741738613000},"page":"134-145","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genotype\u2013Phenotype Correlations, Treatment, and Prognosis of Children With Early\u2010Onset (Neonatal) Marfan Syndrome"],"prefix":"10.1111","volume":"108","author":[{"given":"Eva C.","family":"van der Leest","sequence":"first","affiliation":[{"name":"Department of Pediatrics Amsterdam UMC, University of Amsterdam, Emma Children's Hospital  Amsterdam the Netherlands"},{"name":"Amsterdam Reproduction &amp; Development  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelies E.","family":"van der Hulst","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Amsterdam UMC, University of Amsterdam, Emma Children's Hospital  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Pals","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidiia","family":"Zhytnik","sequence":"additional","affiliation":[{"name":"Amsterdam Reproduction &amp; Development  Amsterdam the Netherlands"},{"name":"Department of Human Genetics Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam the Netherlands"},{"name":"Rare Bone Disease Center Amsterdam  Amsterdam the Netherlands"},{"name":"Amsterdam Movement Sciences, Rehabilitation and Development  Amsterdam the Netherlands"},{"name":"Department of Endocrinology and Metabolism Amsterdam UMC, Vrije Universiteit Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lillian","family":"Lai","sequence":"additional","affiliation":[{"name":"Division of Cardiology Children's Hospital of Eastern Ontario, University of Ottawa  Ottawa Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Jacquemart","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Centre Hospitalier Universitaire de Li\u00e8ge, Pediatric Cardiology  Li\u00e8ge Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay","family":"Mills","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics University of Calgary  Calgary Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michiel","family":"Houben","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Medical Center, Wilhelmina Kinderziekenhuis  Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Jira","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jeroen Bosch Ziekenhuis  's\u2010Hertogenbosch the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert L.","family":"Lunshof","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gelre Ziekenhuizen  Apeldoorn the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7597-3443","authenticated-orcid":false,"given":"Jessica","family":"Warnink\u2010Kavelaars","sequence":"additional","affiliation":[{"name":"Amsterdam Movement Sciences, Rehabilitation and Development  Amsterdam the Netherlands"},{"name":"Department of Rehabilitation Medicine Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vivian","family":"de Waard","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry Amsterdam UMC, University of Amsterdam  Amsterdam the Netherlands"},{"name":"Amsterdam Cardiovascular Sciences Atherosclerosis and Ischemic Syndromes  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonie A.","family":"Menke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Amsterdam UMC, University of Amsterdam, Emma Children's Hospital  Amsterdam the Netherlands"},{"name":"Amsterdam Reproduction &amp; Development  Amsterdam the Netherlands"},{"name":"Amsterdam Neuroscience\u2014Cellular &amp; Molecular Mechanisms  Amsterdam the Netherlands"},{"name":"Emma Center for Personalized Medicine  Amsterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,10]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41572\u2010021\u201000298\u20107"},{"issue":"2","key":"e_1_2_11_3_1","first-page":"110","article-title":"Novel Exon Skipping Mutation in the Fibrillin\u20101 Gene: Two \u2018Hot Spots\u2019 for the Neonatal","volume":"55","author":"Booms P.","year":"1999","journal-title":"Marfan Syndrome"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.267"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.207"},{"key":"e_1_2_11_6_1","unstructured":"C.Boileau \u201cData From: UMD\u2010Fbn1 Mutation Database. 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