{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T11:33:01Z","timestamp":1791286381587,"version":"4.1.0"},"reference-count":28,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2012,2,28]]},"published-print":{"date-parts":[[2012]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Vascular Ehlers\u2013Danlos syndrome (vEDS) is a rare genetic condition related to mutations in the\n                      <jats:italic>COL3A1<\/jats:italic>\n                      gene, responsible of vascular, digestive and uterine accidents. Difficulty of clinical diagnosis has led to the design of diagnostic criteria, summarised in the Villefranche classification. The goal was to assess oral features of vEDS. Gingival recession is the only oral sign recognised as a minor diagnostic criterion. The authors aimed to check this assumption since bibliographical search related to gingival recession in vEDS proved scarce.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Prospective case\u2013control study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>Dental surgery department in a French tertiary hospital.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Participants<\/jats:title>\n                    <jats:p>17 consecutive patients with genetically proven vEDS, aged 19\u201355\u2005years, were compared with 46 age- and sex-matched controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Observations<\/jats:title>\n                    <jats:p>\n                      Complete oral examination (clinical and radiological) with standardised assessment of periodontal structure, temporomandibular joint function and dental characteristics were performed.\n                      <jats:italic>COL3A1<\/jats:italic>\n                      mutations were identified by direct sequencing of genomic or complementary DNA.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Prevalence of gingival recession was low among patients with vEDS, as for periodontitis. Conversely, patients showed marked gingival fragility, temporomandibular disorders, dentin formation defects, molar root fusion and increased root length. After logistic regression, three variables remained significantly associated to vEDS. These variables were integrated in a diagnostic oral score with 87.5% and 97% sensitivity and specificity, respectively.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Gingival recession is an inappropriate diagnostic criterion for vEDS. Several new specific oral signs of the disease were identified, whose combination may be of greater value in diagnosing vEDS.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2011-000705","type":"journal-article","created":{"date-parts":[[2012,4,6]],"date-time":"2012-04-06T01:50:55Z","timestamp":1333677055000},"page":"e000705","source":"Crossref","is-referenced-by-count":25,"title":["Oral phenotype and scoring of vascular Ehlers\u2013Danlos syndrome: a case\u2013control study"],"prefix":"10.1136","volume":"2","author":[{"given":"Fran\u00e7ois C\u00f4me","family":"Ferr\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Frank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Gogly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Golmard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrien","family":"Naveau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hafida","family":"Ch\u00e9rifi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Emmerich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rick","family":"Gaultier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Berdal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Jeunemaitre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin P J","family":"Fournier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,4,5]]},"reference":[{"key":"2025120519394905000_2.2.e000705.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003093421001"},{"key":"2025120519394905000_2.2.e000705.2","doi-asserted-by":"publisher","DOI":"10.1007\/s10016-001-0229-y"},{"key":"2025120519394905000_2.2.e000705.3","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182180c89"},{"key":"2025120519394905000_2.2.e000705.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"2025120519394905000_2.2.e000705.5","unstructured":"Pepin MG Byers PH . Ehlers-Danlos syndrome type IV. 1999 Sep 2 [Updated 3 May 2011]. In: Pagon RA Bird TD Dolan CR , eds. GeneReviewsTM [Internet]. 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