{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T19:16:07Z","timestamp":1793646967668,"version":"4.5.1"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2010,2,5]],"date-time":"2010-02-05T00:00:00Z","timestamp":1265328000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypermobility type Ehlers\u2013Danlos syndrome (HT\u2010EDS) is a relatively frequent, although commonly misdiagnosed variant of Ehlers\u2013Danlos syndrome, mainly characterized by marked joint instability and mild cutaneous involvement. Chronic pain, asthenia, and gastrointestinal and pelvic dysfunction are characteristic additional manifestations. We report on 21 HT\u2010EDS patients selected from a group of 40 subjects with suspected mild hereditary connective tissue disorder. General, mucocutaneous, musculoskeletal, cardiovascular, neurologic, gastrointestinal, urogynecological, and ear\u2013nose\u2013throat abnormalities are investigated systematically and tabulated. Six distinct clinical presentations of HT\u2010EDS are outlined, whose tabulation is a mnemonic for the practicing clinical geneticist in an attempt to diagnose this condition accurately. With detailed clinical records and phenotype comparison among patients of different ages, the natural history of the disorder is defined. Three phases (namely, hypermobility, pain, and stiffness) are delineated based on distinguishing manifestations. A constellation of additional, apparently uncommon abnormalities is also identified, including dolichocolon, dysphonia, and Arnold\u2013Chiari type I malformation. Their further investigation may contribute to an understanding of the pathogenesis of the protean manifestations of HT\u2010EDS, and a more effective approach to the evaluation and management of affected individuals. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33231","type":"journal-article","created":{"date-parts":[[2010,2,5]],"date-time":"2010-02-05T22:49:03Z","timestamp":1265410143000},"page":"556-564","source":"Crossref","is-referenced-by-count":198,"title":["Natural history and manifestations of the hypermobility type Ehlers\u2013Danlos syndrome: A pilot study on 21 patients"],"prefix":"10.1002","volume":"152A","author":[{"given":"Marco","family":"Castori","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Camerota","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Celletti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Danese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valter","family":"Santilli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo Maria","family":"Saraceni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Grammatico","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,2,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/ard.32.5.413"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2007.12.005"},{"key":"e_1_2_6_5_1","article-title":"Quality of life in the classic and hypermobility types of Ehlers\u2013Danlos syndrome","author":"Castori M","year":"2009","journal-title":"Ann Neurol"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.80.2.188"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1053\/berh.1999.0069"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/40.5.559"},{"key":"e_1_2_6_9_1","first-page":"1777","article-title":"The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS)","volume":"27","author":"Grahame R","year":"2000","journal-title":"J Rheumatol"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/40.5.487"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2003.08.001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-2982.1999.1909791.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2001.104002113.x"},{"key":"e_1_2_6_14_1","unstructured":"KoleA FaurissonF.2009.The voice of 12 000 patients. Eurordis.http:\/\/www.eurordis.org\/article.php3?id_article=1960"},{"key":"e_1_2_6_15_1","unstructured":"LevyHP.2009.Ehlers\u2013Danlos syndrome hypermobility type. GeneReviews at Gene\u2010Tests(http:\/\/www.genetests.org\/) Last Update: May 1 2007."},{"key":"e_1_2_6_16_1","first-page":"A69","article-title":"Gastroesophageal reflux and irritable bowel syndrome in classical and hypermobile Ehlers\u2013Danlos syndrome (EDS)","volume":"65","author":"Levy HP","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.soscij.2008.03.009"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.3171\/SPI-07\/12\/601"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2005.40885.x"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2008.02.041"},{"key":"e_1_2_6_21_1","first-page":"E8","article-title":"Ehlers\u2013Danlos syndrome presenting as dysphonia and manifesting as tongue hypermobility: Report of 2 cases","volume":"88","author":"Richmon JD","year":"2009","journal-title":"Ear Nose Throat J"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2008.09.018"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa002939"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471221929.ch9"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33070"},{"key":"e_1_2_6_26_1","article-title":"Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link?","author":"Zarate N","year":"2009","journal-title":"Neurogastroenterol Motil"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/376564"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33231","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33231","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:23:16Z","timestamp":1697055796000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33231"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,5]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["10.1002\/ajmg.a.33231"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33231","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,5]]}}}