{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T13:33:19Z","timestamp":1760189599641,"version":"3.37.3"},"reference-count":33,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,12,23]],"date-time":"2017-12-23T00:00:00Z","timestamp":1513987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100012352","name":"University of Milan","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012352","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Anatomy"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Marfan syndrome (MFS) is a rare hereditable disorder of connective tissue caused by mutations in the fibrillin\u20101 gene <jats:italic>FBN1<\/jats:italic>. Timely diagnosis of MFS is essential to prevent life\u2010threatening cardiovascular complications; nevertheless it can be difficult owing to the phenotypic variability of the syndrome. No clear quantitative definition of facial abnormalities associated with MFS is available. The aim of this study was to improve the definition of the facial phenotype associated with MFS and to verify the usefulness of a 3D noninvasive quantitative approach for its early recognition. 3D facial images of 61 Italian subjects with MFS, aged 16\u201364 years (21 males, 38\u2009\u00b1\u200915 years; 40 females, 41\u2009\u00b1\u200913 years) were obtained by stereophotogrammetry. From the coordinates of 17 soft\u2010tissue facial landmarks, linear distances and angles were computed; <jats:italic>z<\/jats:italic> score values were calculated to compare patients with healthy reference subjects (400 males, 379 females) matched for sex and age. Student's <jats:italic>t<\/jats:italic> test was used for statistical comparisons. All subjects with MFS showed greater facial divergence (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001; mean <jats:italic>z<\/jats:italic> score +1.9) and a lower facial height index (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001; mean <jats:italic>z<\/jats:italic> score \u22121.9) than reference subjects, both values being influenced by a shorter mandibular ramus (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001; mean <jats:italic>z<\/jats:italic> score \u22121.9) and a mild but significant increase in facial height (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001; mean <jats:italic>z<\/jats:italic> score +1.2). Palpebral down\u2010slanting was found in 85% of MFS subjects. There were no sex differences. Quantitative abnormalities identified in this study enrich information about the facial dysmorphism in MFS and confirm its usefulness for early recognition of the disease. Clin. Anat. 31:380\u2013386, 2018. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ca.23034","type":"journal-article","created":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T08:27:06Z","timestamp":1512980826000},"page":"380-386","source":"Crossref","is-referenced-by-count":16,"title":["The face in marfan syndrome: A 3D quantitative approach for a better definition of dysmorphic features"],"prefix":"10.1002","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3060-4097","authenticated-orcid":false,"given":"Claudia","family":"Dolci","sequence":"first","affiliation":[{"name":"Dipartimento di Scienze Biomediche per la Salute Universit\u00e0 degli Studi di Milano Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valentina","family":"Pucciarelli","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche per la Salute Universit\u00e0 degli Studi di Milano Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9591-1047","authenticated-orcid":false,"given":"Daniele M.","family":"Gibelli","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche per la Salute Universit\u00e0 degli Studi di Milano Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Codari","sequence":"additional","affiliation":[{"name":"Unit\u00e0 of Radiologia, IRCCS Policlinico San Donato, San Donato Milanese Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Marelli","sequence":"additional","affiliation":[{"name":"Centro Malattie Rare, Marfan Clinic, U.O. Cardiologia, ASST Fatebenefratelli\u2010Sacco Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuliana","family":"Trifir\u00f2","sequence":"additional","affiliation":[{"name":"U.O. Pediatria, ASST Rhodense Rho, Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandro","family":"Pini","sequence":"additional","affiliation":[{"name":"Centro Malattie Rare, Marfan Clinic, U.O. Cardiologia, ASST Fatebenefratelli\u2010Sacco Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6532-6464","authenticated-orcid":false,"given":"Chiarella","family":"Sforza","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Biomediche per la Salute Universit\u00e0 degli Studi di Milano Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.5435\/JAAOS-D-16-00143"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.120.5.1455"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30393"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1067\/moe.2002.121430"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2009.09.036"},{"key":"e_1_2_8_7_1","first-page":"700","article-title":"Association between oro\u2010facial defects and systemic alterations in children affected by Marfan syndrome","volume":"7","author":"Docimo R","year":"2013","journal-title":"J Clin Diagn Res"},{"key":"e_1_2_8_8_1","doi-asserted-by":"crossref","unstructured":"DolciC PucciarelliV CodariM GibelliDM MarelliS Trifir\u00f2G PiniA SforzaC.2015. 3D craniofacial morphometric analysis of young subjects with Marfan syndrome: A preliminary report. Proceedings of the 6th International Conference on Body Scanning Technologies Lugano Switzerland. p54\u201360.","DOI":"10.15221\/15.054"},{"key":"e_1_2_8_9_1","doi-asserted-by":"crossref","unstructured":"DolciC PucciarelliV CodariM MarelliS Trifir\u00f2G PiniA SforzaC.2016. 3D morphometric evaluation of craniofacial features in adult subjects with Marfan syndrome. Proceedings of the 7th International Conference on Body Scanning Technologies Lugano Switzerland. p98\u2013104.","DOI":"10.15221\/16.098"},{"key":"e_1_2_8_10_1","first-page":"1","volume-title":"Facial growth","author":"Enlow DH.","year":"1990"},{"key":"e_1_2_8_11_1","first-page":"1","volume-title":"Anthropometry of the head and neck","author":"Farkas LG.","year":"1994"},{"key":"e_1_2_8_12_1","first-page":"86","article-title":"Soft tissue facial morphology related to headform: A three\u2010dimensional quantitative analysis in childhood","volume":"17","author":"Ferrario VF","year":"1997","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ca.10154"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22540"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.76.1.41"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11042-016-3741-3"},{"key":"e_1_2_8_18_1","first-page":"220","article-title":"Un cas de d\u00e9formation congenitale des quatre membres plus prononc\u00e9e aux extremit\u00e9s characteris\u00e9e par l'allongment des os avec un certain degr\u00e9 d'amincissement","volume":"13","author":"Marfan AB.","year":"1896","journal-title":"Bull Mem Soc Med Hop Paris"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoms.2013.02.014"},{"key":"e_1_2_8_20_1","first-page":"73","article-title":"Craniofacial aspects of the Marfan syndrome","volume":"25","author":"Poole AE.","year":"1989","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ca.22890"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2015.03.423"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.2319\/092313-699.1"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2016.07.033"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1597\/03-033.1"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0722.2009.00685.x"},{"key":"e_1_2_8_27_1","first-page":"59","article-title":"Soft\u2010 and hard\u2010tissue facial anthropometry in three dimensions: What's new","volume":"91","author":"Sforza C","year":"2013","journal-title":"J Anthropol Sci"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2013.10.013"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcs008"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1597\/15-068"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.I.00892"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11832-010-0295-1"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11042-017-5025-y"},{"key":"e_1_2_8_34_1","first-page":"211","article-title":"Craniofacial manifestations in the Marfan syndrome: Palatal dimensions and a comparative cephalometric analysis","volume":"18","author":"Westling L","year":"1998","journal-title":"J Cran Genet Dev Bio"}],"container-title":["Clinical Anatomy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fca.23034","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ca.23034","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ca.23034","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ca.23034","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T22:49:56Z","timestamp":1694386196000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ca.23034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,12,23]]},"references-count":33,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2018,4]]}},"alternative-id":["10.1002\/ca.23034"],"URL":"https:\/\/doi.org\/10.1002\/ca.23034","archive":["Portico"],"relation":{},"ISSN":["0897-3806","1098-2353"],"issn-type":[{"type":"print","value":"0897-3806"},{"type":"electronic","value":"1098-2353"}],"subject":[],"published":{"date-parts":[[2017,12,23]]}}}