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Children were evaluated by a multidisciplinary team consisting of a pediatric orthopedist, a neurogeneticist, a neurodevelopmentalist, and two physical therapists. Increased rates of torticollis (32.4%), hamstring tightness (42%), radioulnar synostosis (67.6%), pes planus (65.2%), and other foot abnormalities (86.9%) were observed. Several anomalies increased with age, specifically hamstring tightness, kyphosis, and scoliosis. The elucidation of the orthopedic profile of this population is necessary in order to provide healthcare providers with current medical information. This research further supports the necessity for the comprehensive multidisciplinary treatment of boys with 49,XXXXY.<\/jats:p>","DOI":"10.1002\/ajmg.a.61578","type":"journal-article","created":{"date-parts":[[2020,4,3]],"date-time":"2020-04-03T16:03:37Z","timestamp":1585929817000},"page":"3531-3540","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Musculoskeletal abnormalities in a large international cohort of boys with 49,<scp>XXXXY<\/scp>"],"prefix":"10.1002","volume":"185","author":[{"given":"Laura","family":"Tosi","sequence":"first","affiliation":[{"name":"Children's National Hospital Washington District of Columbia USA"},{"name":"The George Washington University School of Medicine and Health Sciences Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francie","family":"Mitchell","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace F.","family":"Porter","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leigh","family":"Ruland","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Gropman","sequence":"additional","affiliation":[{"name":"Children's National Hospital Washington District of Columbia USA"},{"name":"The George Washington University School of Medicine and Health Sciences Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia C.","family":"Lasutschinkow","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selena L.","family":"Tran","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elmer N.","family":"Rajah","sequence":"additional","affiliation":[{"name":"Children's National Hospital Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Austin P.","family":"Gillies","sequence":"additional","affiliation":[{"name":"Children's National Hospital Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Hendrie","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rick","family":"Peret","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Teresa","family":"Sadeghin","sequence":"additional","affiliation":[{"name":"The Focus Foundation Davidsonville Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9941-0568","authenticated-orcid":false,"given":"Carole A.","family":"Samango\u2010Sprouse","sequence":"additional","affiliation":[{"name":"The George Washington University School of Medicine and Health Sciences Washington District of Columbia USA"},{"name":"The Focus Foundation Davidsonville Maryland USA"},{"name":"Florida International University Miami Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,3]]},"reference":[{"key":"e_1_2_9_2_1","unstructured":"Academy of Pediatric Physical Therapy Fact Sheet.The Role and Scope of Pediatric Physical Therapy in Fitness Wellness Health Promotion and Prevention. 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