{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,4]],"date-time":"2026-07-04T08:35:09Z","timestamp":1783154109140,"version":"3.54.6"},"reference-count":15,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. However, the diagnosis can be difficult as it is essentially a clinical one, relying on family history, meticulous physical examination and investigation of involved organ systems. Patients of Marfan syndrome portray very typical physical and orofacial characteristics, suggesting obvious recognition, but due to variable phenotypic expression, cases often go unnoticed unless a full range of attributing features is apparent. Dental practitioners are very likely to encounter patients of Marfan syndrome at an early age as they frequently present for dental treatment. The present case report illustrates the preliminary screening of Marfan syndrome in a dental office followed by timely diagnosis and appropriate referrals.<\/jats:p>","DOI":"10.1136\/bcr-2013-201632","type":"journal-article","created":{"date-parts":[[2013,12,11]],"date-time":"2013-12-11T05:15:15Z","timestamp":1386738915000},"page":"bcr2013201632","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Marfan syndrome"],"prefix":"10.1136","volume":"2013","author":[{"given":"Eesha","family":"Jain","sequence":"first","affiliation":[{"name":"Department of Paediatric and Preventive Dentistry, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramesh Kumar","family":"Pandey","sequence":"additional","affiliation":[{"name":"Department of Paediatric and Preventive Dentistry, Faculty of Dental Sciences, King George's Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,12,11]]},"reference":[{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.1","doi-asserted-by":"crossref","unstructured":"Pyeritz RE . Toward understanding cause and pathogenesis of Marfan syndrome. In: Hetzer R Gehle P Ennker J , eds. Cardiovascular aspects of Marfan syndrome. Darmstadt, Germany: Steinkopff Verlag, 1995:1\u20138.","DOI":"10.1007\/978-3-642-72508-1_1"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2006.098798"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.3","unstructured":"Pyeritz RE Gasner C . The Marfan syndrome. 4th edn. New York: The National Marfan Foundation, 1994."},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.4","doi-asserted-by":"crossref","unstructured":"Allwork SP Miall-Allen VM Wyse RK . Cardiovascular disease in Marfan patients in infancy and childhood. In: Hetzer R Gehle P Ennker J , eds. Cardiovascular aspects of Marfan syndrome. 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Darmstadt, Germany: Steinkopff Verlag, 1995:61\u201370.","DOI":"10.1007\/978-3-642-72508-1_9"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2006.10.022"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.7","first-page":"535","article-title":"Orofacial manifestations of congenital \ufb01brillin de\ufb01ciency: pathogenesis and clinical diagnostics","volume":"26","author":"De Coster","year":"2004","journal-title":"Pediatr Dent"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.8","doi-asserted-by":"publisher","DOI":"10.1080\/000164800750000658"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.9","first-page":"E211","article-title":"Periodontal disease associated to systemic genetic disorders","volume":"12","author":"Nualart Grollmus","year":"2007","journal-title":"Med Oral Patol Oral Cir Bucal"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.10","doi-asserted-by":"publisher","DOI":"10.1902\/jop.2002.73.7.823"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.11","doi-asserted-by":"publisher","DOI":"10.1016\/j.tripleo.2003.10.024"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.12","doi-asserted-by":"crossref","first-page":"e56","DOI":"10.1016\/j.tripleo.2008.06.029","article-title":"Prevalence of pulp calcifications in patients with Marfan syndrome","volume":"106","author":"Bauss","year":"2008","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.13","first-page":"162","article-title":"Systemic management of Marfan's syndrome during dental treatment: a case report","volume":"2","author":"Hirota","year":"1993","journal-title":"Anesth Pain Control Dent"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.14","doi-asserted-by":"publisher","DOI":"10.1097\/00005768-199803000-00008"},{"key":"2025082801460618000_2013.dec11_2.bcr2013201632.15","doi-asserted-by":"publisher","DOI":"10.1007\/s11832-010-0295-1"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-201632","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T08:46:15Z","timestamp":1756370775000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-201632"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,11]]},"references-count":15,"alternative-id":["10.1136\/bcr-2013-201632"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-201632","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,11]]}}}