{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T15:07:25Z","timestamp":1791990445002,"version":"4.4.0"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,24]],"date-time":"2020-02-24T00:00:00Z","timestamp":1582502400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Arthrochalasia Ehlers\u2010Danlos syndrome (aEDS) is a rare autosomal dominant connective tissue disorder that is characterized by congenital bilateral hip dislocations, severe generalized joint hypermobility, recurrent joint (sub)luxations, and skin hyperextensibility. To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow\u2010up data on 6 adult patients. The clinical features are largely comparable with patients reported in the literature. Most (<jats:italic>n<\/jats:italic> = 10) patients had variants leading to (partial) loss of exon 6 of the <jats:italic>COL1A1<\/jats:italic> or <jats:italic>COL1A2<\/jats:italic> genes. One patient did not have a previously reported likely pathogenic <jats:italic>COL1A1<\/jats:italic> variant. Data regarding management were retrieved. Hip surgery was performed in 5\/12 patients and 3\/12 patients underwent spinal surgery. As much as 4\/12 patients were wheelchair\u2010bound or unable to walk unaided. Fractures were present in 9\/12 individuals with 1 patient requiring bisphosphonate treatment. Echocardiograms were performed in 10 patients and 2 individuals showed an abnormality likely unrelated to aEDS. One patient gave birth to two affected children and went through preterm labor requiring medication but had no additional complications. Of the eight adults in our cohort, the majority entered a career. Our data point toward a genotype\u2013phenotype relationship with individuals with aEDS due to pathogenic <jats:italic>COL1A1<\/jats:italic> variants causing complete or partial loss of exon 6 being more severely affected regarding musculoskeletal features. There is a significant lack of knowledge with regard to management of aEDS, particularly in adulthood. As such, systematic follow\u2010up and multidisciplinary treatment is essential.<\/jats:p>","DOI":"10.1002\/ajmg.a.61523","type":"journal-article","created":{"date-parts":[[2020,2,24]],"date-time":"2020-02-24T11:45:37Z","timestamp":1582544737000},"page":"994-1007","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers\u2010Danlos syndrome"],"prefix":"10.1002","volume":"182","author":[{"given":"Sandy","family":"Ayoub","sequence":"first","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Northwick Park and St. Mark's Hospitals, Harrow  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neeti","family":"Ghali","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Northwick Park and St. Mark's Hospitals, Harrow  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chloe","family":"Angwin","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Northwick Park and St. Mark's Hospitals, Harrow  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duncan","family":"Baker","sequence":"additional","affiliation":[{"name":"Sheffield Children's NHS Foundation Trust Sheffield Diagnostic Genetics Service  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stella","family":"Baffini","sequence":"additional","affiliation":[{"name":"Genetics Science Piazza Savonarola 11  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela F.","family":"Brady","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Northwick Park and St. Mark's Hospitals, Harrow  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luisa","family":"Giovannucci Uzielli","sequence":"additional","affiliation":[{"name":"Genetics Science Piazza Savonarola 11  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"Giunta","sequence":"additional","affiliation":[{"name":"Connective Tissue Unit, Division of Metabolism and Children's Research Centre University Children's Hospital  Zurich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana S.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Sheffield Children's Hospital  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Shinshu University School of Medicine  Matsumoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Neas","sequence":"additional","affiliation":[{"name":"Genetic Health Service New Zealand  Wellington New Zealand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. Michael","family":"Pope","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Northwick Park and St. Mark's Hospitals, Harrow  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rutsch","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of M\u00fcnster  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Scarselli","sequence":"additional","affiliation":[{"name":"Genetics Science Piazza Savonarola 11  Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenda","family":"Sobey","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Sheffield Children's Hospital  Sheffield UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Vandersteen","sequence":"additional","affiliation":[{"name":"Maritime Medical Genetics Service IWK Health Centre  Halifax Nova Scotia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6341-169X","authenticated-orcid":false,"given":"Fleur S.","family":"van Dijk","sequence":"additional","affiliation":[{"name":"Ehlers\u2010Danlos Syndrome National Diagnostic Service Northwick Park and St. Mark's Hospitals, Harrow  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,24]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31548"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31550"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<94::AID-AJMG20>3.0.CO;2-O"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.31.4.306"},{"issue":"9","key":"e_1_2_10_6_1","doi-asserted-by":"crossref","first-page":"6361","DOI":"10.1016\/S0021-9258(18)42703-2","article-title":"A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers\u2010Danlos syndrome type VII","volume":"267","author":"Chiodo A. 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