{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T00:20:41Z","timestamp":1784852441648,"version":"3.55.0"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T00:00:00Z","timestamp":1364256000000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Visceroptosis is described in several heritable connective tissue disorders, including the hypermobility type of Ehlers\u2013Danlos syndrome (hEDS), a.k.a. joint hypermobility syndrome (JHS). Clinical features of hEDS comprise joint hypermobility, mild skin hyperextensibility, joint instability complications, chronic joint\/limb pain, and positive family history. Uterine and rectal prolapse has been reported in nulliparous women. We report on a family with two patients with hEDS. The proposita, a 38\u2010year\u2010old woman, present bilateral kidney prolapse requiring three nephropexies, gastric ptosis treated with gastropexy and Billroth I gastrectomy, and liver prolapse treated with a non\u2010codified hepatopexy procedure. Radiological evaluation also showed ovarian and heart prolapse. To our knowledge this is the first case of multiple visceral ptoses in hEDS. Visceral prolapse may lead to severe morbidity, affecting quality of life and a high rate of relapses after surgical procedures. Further investigations are needed to understand the molecular basis of the disease and retrospective studies on surgical outcomes, presentation of case series can be effective in order to offer a better treatment and prevention for hEDS patients. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35825","type":"journal-article","created":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T04:09:17Z","timestamp":1364357357000},"page":"1143-1147","source":"Crossref","is-referenced-by-count":21,"title":["Recurring and Generalized Visceroptosis in Ehlers\u2013<scp>D<\/scp>anlos Syndrome Hypermobility Type"],"prefix":"10.1002","volume":"161","author":[{"given":"Chiara","family":"Dordoni","sequence":"first","affiliation":[{"name":"Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology Medical Faculty, University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Ritelli","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology Medical Faculty, University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Venturini","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital Spedali Civili, Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Chiarelli","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology Medical Faculty, University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Pezzani","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology Medical Faculty, University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Vascellaro","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital Spedali Civili, Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piergiacomo","family":"Calzavara\u2010Pinton","sequence":"additional","affiliation":[{"name":"Department of Dermatology University Hospital Spedali Civili, Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Colombi","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology Medical Faculty, University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(99)90136-7"},{"key":"e_1_2_5_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_5_4_1","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2000.105410"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35483"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33231"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33585"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35506"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMicm066971"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34134"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01858.x"},{"key":"e_1_2_5_12_1","first-page":"109","article-title":"Rectal prolapse in the Ehlers\u2013Danlos syndrome","volume":"9","author":"Douglas BS","year":"1973","journal-title":"Austr Paediatr J"},{"key":"e_1_2_5_13_1","first-page":"1777","article-title":"The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS)","volume":"27","author":"Grahme R","year":"2000","journal-title":"J Rheumatol"},{"key":"e_1_2_5_14_1","unstructured":"LevyHP.2004. 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