{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T21:48:18Z","timestamp":1782078498270,"version":"3.54.5"},"reference-count":25,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"abstract":"<jats:p>\n                    Early-onset Marfan Syndrome (eoMFS) is caused by pathogenic variants in the fibrillin-1 (\n                    <jats:italic toggle=\"yes\">FBN1<\/jats:italic>\n                    ) gene. Typical clinical findings include a prematurely aged appearance, severe atrioventricular valve dysfunction (mitral\/tricuspid valve insufficiency), and skeletal findings\u2014primarily arachnodactyly, multiple joint contractures, and pectus deformity. Craniosynostosis has been reported in rare cases of eoMFS, but not in association with the c.3037G&gt;A,\n                    <jats:italic toggle=\"yes\">p.Gly1013Arg<\/jats:italic>\n                    variant in\n                    <jats:italic toggle=\"yes\">FBN1<\/jats:italic>\n                    . Here we present a case of a 2-month-old male with bilateral lambdoidal and sagittal craniosynostosis diagnosed with eoMFS after genome sequencing identified a\n                    <jats:italic toggle=\"yes\">de novo<\/jats:italic>\n                    pathogenic variant in\n                    <jats:italic toggle=\"yes\">FBN1,<\/jats:italic>\n                    c.3037G&gt;A,\n                    <jats:italic toggle=\"yes\">p.Gly1013Arg.<\/jats:italic>\n                  <\/jats:p>","DOI":"10.1177\/10556656261461334","type":"journal-article","created":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T08:49:42Z","timestamp":1781772582000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of\n                    <i>FBN1<\/i>\n                    -Related Early Onset Marfan Syndrome with Multi-Suture Craniosynostosis"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9713-4707","authenticated-orcid":false,"given":"Anna Soo","family":"Godfrey","sequence":"first","affiliation":[{"name":"David Geffen School of Medicine at UCLA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denisse","family":"Garza","sequence":"additional","affiliation":[{"name":"David Geffen School of Medicine at UCLA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-5700-8054","authenticated-orcid":false,"given":"Daniela","family":"Schweitzer","sequence":"additional","affiliation":[{"name":"David Geffen School of Medicine at UCLA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5264-2107","authenticated-orcid":false,"given":"Christine Katie","family":"Thang","sequence":"additional","affiliation":[{"name":"David Geffen School of Medicine at UCLA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,6,18]]},"reference":[{"key":"e_1_3_2_2_2","first-page":"1","volume-title":"GeneReviews\u00ae","author":"Dietz HC","year":"2001","unstructured":"Dietz HC, Loeys BL, Adam MP, et al. FBN1-related Marfan syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews\u00ae. University of Washington; 2001:1\u201313. Updated February 17, 2022. PMID:20301510."},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200582"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.03.016"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-80614-9_8"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1675338"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0248532"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104215"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31006"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0296-209"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9207"},{"issue":"5","key":"e_1_3_2_14_2","first-page":"473","article-title":"Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome","volume":"114","author":"Lo IF","year":"2001","unstructured":"Lo IF, Wong RM, Lam FW, Tong TM, Lam ST. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome. Chin Med J (Engl). 2001;114(5):473-476.","journal-title":"Chin Med J (Engl)"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ppedcard.2024.101050"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14722"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-012-0931-y"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.052218"},{"issue":"1","key":"e_1_3_2_19_2","first-page":"70","article-title":"A c.3037G>A mutation in the FBN1 gene causing Marfan syndrome with an atypically severe phenotype","volume":"58","author":"Callea M","year":"2017","unstructured":"Callea M, Willoughby CE, Camarata-Scalisi F, et al. A c.3037G>A mutation in the FBN1 gene causing Marfan syndrome with an atypically severe phenotype. Invest Clin. 2017;58(1):70-78.","journal-title":"Invest Clin"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.161.20.2447"},{"issue":"1","key":"e_1_3_2_21_2","first-page":"8","article-title":"Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons","volume":"57","author":"Nijbroek G","year":"1995","unstructured":"Nijbroek G, Sood S, McIntosh I, et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet. 1995;57(1):8-21.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20239"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61567"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.002"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31202"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac131"}],"container-title":["The Cleft Palate Craniofacial Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656261461334","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10556656261461334","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10556656261461334","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,21]],"date-time":"2026-06-21T21:25:32Z","timestamp":1782077132000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10556656261461334"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,18]]},"references-count":25,"alternative-id":["10.1177\/10556656261461334"],"URL":"https:\/\/doi.org\/10.1177\/10556656261461334","relation":{},"ISSN":["1055-6656","1545-1569"],"issn-type":[{"value":"1055-6656","type":"print"},{"value":"1545-1569","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,18]]},"article-number":"10556656261461334"}}