{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T20:40:03Z","timestamp":1748119203758,"version":"3.41.0"},"reference-count":29,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p>The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascular Ehlers Danlos syndrome (vEDS) however, is characterised by a recognisable phenotypic constellation of internal and external dysmorphology. This review charts the paediatric and adult phenotypes of vEDS due primarily to <jats:italic toggle=\"yes\">COL3A1<\/jats:italic> gene variants and the potential recognition of some other EDS subtypes, including <jats:italic toggle=\"yes\">COL1A1<\/jats:italic> and <jats:italic toggle=\"yes\">COL25A1<\/jats:italic> that can present with vEDS-like features, with certain dysmorphic handles as clues to the diagnosis and the adjunct of gene testing in patients presenting with vEDS features.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000437","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T10:00:06Z","timestamp":1670839206000},"page":"1-6","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["The dysmorphic phenotype in vascular Ehlers Danlos syndrome"],"prefix":"10.1097","volume":"32","author":[{"given":"James R.","family":"Lyness","sequence":"first","affiliation":[{"name":"State Pathologist\u2019s Department, Institute of Forensic Medicineand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick J.","family":"Morrison","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.3899\/jrheum.081252","article-title":"Mimics of vasculitis: vascular Ehlers-Danlos syndrome masquerading as polyarteritis nodosa.","volume":"36","author":"Badawi","year":"2009","journal-title":"J Rheumatol"},{"key":"R2-20250524","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1161\/01.CIR.0000121741.50315.C2","article-title":"Increased carotid wall stress in vascular Ehlers-Danlos syndrome.","volume":"109","author":"Boutouyrie","year":"2004","journal-title":"Circulation"},{"key":"R3-20250524","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1002\/ajmg.c.31553","article-title":"Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.","volume":"175","author":"Byers","year":"2017","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"R4-20250524","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1002\/ajmg.a.61449","article-title":"Amniotic band sequence in paternal half-siblings with vascular Ehlers-Danlos syndrome.","volume":"182","author":"Callaghan","year":"2020","journal-title":"Am J Med Genet A"},{"key":"R5-20250524","first-page":"76","article-title":"\u00dcber einen Fall von Cutis laxa.","volume":"14","author":"Chernogubow","year":"1892","journal-title":"Monatshefte f\u00fcr praktische Dermatologie, Hamburg"},{"issue":"Suppl 134","key":"R6-20250524","doi-asserted-by":"crossref","first-page":"46","DOI":"10.55563\/clinexprheumatol\/kzkq6y","article-title":"Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.","volume":"40","author":"Colman","year":"2022","journal-title":"Clin Exp Rheumatol"},{"key":"R7-20250524","first-page":"70","article-title":"Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juv\u00e9nile pseudo-diabetique de MM Hallopeau et Mac\u00e9 de L\u00e9pinay).","volume":"19","author":"Danlos","year":"1908","journal-title":"Bulletin de la Societ\u00e9 francaise de dermatologie et de syphiligraphie, Paris"},{"key":"R8-20250524","first-page":"173","article-title":"Cutis laxa. 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