{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T19:02:41Z","timestamp":1792782161608,"version":"4.5.0"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,7]],"date-time":"2017-03-07T00:00:00Z","timestamp":1488844800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"C.E.D.I. Onlus"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>Joint hypermobility syndrome (JHS) and Ehlers\u2013Danlos syndrome, hypermobility type (EDS\u2013HT) are two overlapping heritable disorders (JHS\/EDS\u2013HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test. This descriptive research was aimed at better characterizing the clinical phenotype of JHS\/EDS\u2013HT with focus on available diagnostic criteria, and in order to propose novel features and assessment strategies. One hundred and eighty\u2010nine (163 females, 26 males; age: 2\u201373 years) patients from two Italian reference centers were investigated for Beighton score, range of motion in 21 additional joints, rate and sites of dislocations and sprains, recurrent soft\u2010tissue injuries, tendon and muscle ruptures, body mass index, arm span\/height ratio, wrist and thumb signs, and 12 additional orthopedic features. Rough rates were compared by age, sex, and handedness with a series of parametric and non\u2010parametric tools. Multiple correspondence analysis was carried out for possible co\u2010segregations of features. Beighton score and hypermobility at other joints were influenced by age at diagnosis. Rate and sites of joint instability complications did not vary according to age at diagnosis except for soft\u2010tissue injuries. No major difference was registered by sex and dominant versus non\u2010dominant body side. At multiple correspondence analysis, selected features tend to co\u2010segregate in a dichotomous distribution. Dolichostenomelia and arachnodactyly segregated independently. This study pointed out a more protean musculoskeletal phenotype than previously considered according to available diagnostic criteria for JHS\/EDS\u2013HT. Our findings corroborated the need for a re\u2010thinking of JHS\/EDS\u2013HT on clinical grounds in order to find better therapeutic and research strategies. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38106","type":"journal-article","created":{"date-parts":[[2017,3,7]],"date-time":"2017-03-07T00:22:48Z","timestamp":1488846168000},"page":"914-929","source":"Crossref","is-referenced-by-count":27,"title":["Refining patterns of joint hypermobility,\n                    <i>habitus<\/i>\n                    , and orthopedic traits in joint hypermobility syndrome and Ehlers\u2013Danlos syndrome, hypermobility type"],"prefix":"10.1002","volume":"173","author":[{"given":"Silvia","family":"Morlino","sequence":"first","affiliation":[{"name":"Unit of Clinical Genetics San Camillo\u2013Forlanini General Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Dordoni","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine  Medical Faculty University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Sperduti","sequence":"additional","affiliation":[{"name":"Biostatistics San Gallicano Dermatologic Institute Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Venturini","sequence":"additional","affiliation":[{"name":"Division of Dermatology Department of Clinical and Experimental Sciences Spedali Civili University Hospital, Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Celletti","sequence":"additional","affiliation":[{"name":"Division of Physical Therapy and Rehabilitation Department of Orthopedic Sciences Sapienza University Umberto I University Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filippo","family":"Camerota","sequence":"additional","affiliation":[{"name":"Division of Physical Therapy and Rehabilitation Department of Orthopedic Sciences Sapienza University Umberto I University Hospital Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Colombi","sequence":"additional","affiliation":[{"name":"Division of Biology and Genetics Department of Molecular and Translational Medicine  Medical Faculty University of Brescia Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Castori","sequence":"additional","affiliation":[{"name":"Unit of Clinical Genetics San Camillo\u2013Forlanini General Hospital Rome 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