{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:40:04Z","timestamp":1787755204681,"version":"build-2784847793"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\n Case:<\/jats:title>\n Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with many phenotypic characteristics, including multiple orthopaedic manifestations. Of these, symptomatic significant hip dysplasia has been variably noted. Nonetheless, few reports detail surgical treatment for these patients, including hip preservation for those with hip dysplasia.<\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n Periacetabular osteotomy allows for the correction of severe hip dysplasia in patients with WDSTS. With proper recognition and timely intervention, adequate care may be provided for these patients.<\/jats:p>\n <\/jats:sec>","DOI":"10.2106\/jbjs.cc.21.00623","type":"journal-article","created":{"date-parts":[[2022,1,20]],"date-time":"2022-01-20T14:12:26Z","timestamp":1642687946000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Severe Hip Dysplasia in Wiedemann-Steiner Syndrome Treated with Bilateral Bernese Periacetabular Osteotomy"],"prefix":"10.2106","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9376-8195","authenticated-orcid":false,"given":"David C.","family":"Evans","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery, Boston Children\u2019s Hospital, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9187-3100","authenticated-orcid":false,"given":"Eduardo N.","family":"Novais","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Boston Children\u2019s Hospital, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,1]]},"reference":[{"issue":"6","key":"bib2-20240805","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1002\/ajmg.a.62124","article-title":"Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome","volume":"185","author":"Sheppard","year":"2021","journal-title":"Am J Med Genet A."},{"issue":"6","key":"bib3-20240805","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/j.ejmg.2017.03.006","article-title":"Wiedemann-Steiner syndrome: novel pathogenic variant and review of literature","volume":"60","author":"Aggarwal","year":"2017","journal-title":"Eur J Med Genet."},{"issue":"2","key":"bib4-20240805","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.ajhg.2012.06.008","article-title":"De novo mutations in MLL cause Wiedemann-Steiner syndrome","volume":"91","author":"Jones","year":"2012","journal-title":"Am J Hum Genet."},{"issue":"2","key":"bib5-20240805","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1177\/0883073816674095","article-title":"Wiedemann-steiner syndrome with 2 novel KMT2A mutations: variable severity in psychomotor development and musculoskeletal manifestation","volume":"32","author":"Min Ko","year":"2017","journal-title":"J Child Neurol."},{"issue":"9","key":"bib6-20240805","doi-asserted-by":"crossref","first-page":"2182","DOI":"10.1002\/ajmg.a.37130","article-title":"A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner Syndrome","volume":"167A","author":"Dunkerton","year":"2015","journal-title":"Am J Med Genet A."},{"issue":"8","key":"bib7-20240805","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1002\/ajmg.a.36590","article-title":"Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL)","volume":"164A","author":"Mendelsohn","year":"2014","journal-title":"Am J Med Genet A."},{"issue":"2","key":"bib8-20240805","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1002\/ajmg.a.38025","article-title":"Further delineation of the phenotype of truncating KMT2A mutations: the extended Wiedemann\u2013Steiner syndrome","volume":"173","author":"Sun","year":"2017","journal-title":"Am J Med Genet A."},{"issue":"3","key":"bib9-20240805","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1002\/ccr3.3704","article-title":"Wiedemann-Steiner syndrome: a case report","volume":"9","author":"Hirst","year":"2021","journal-title":"Clin Case Rep."},{"issue":"232","key":"bib10-20240805","first-page":"26","article-title":"A new periacetabular osteotomy for the treatment of hip dysplasias. Technique and preliminary results","volume":"Jul","author":"Ganz","year":"1988","journal-title":"Clin Orthop Relat Res"},{"issue":"10","key":"bib11-20240805","doi-asserted-by":"crossref","first-page":"3142","DOI":"10.1007\/s11999-014-3720-9","article-title":"The Bernese periacetabular osteotomy: is transection of the rectus femoris tendon essential?","volume":"472","author":"Novais","year":"2014","journal-title":"Clin Orthop Relat Res."}],"container-title":["JBJS Case Connector"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.21.00623","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:39:14Z","timestamp":1787751554000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.21.00623"}},"subtitle":["A Case Report"],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.2106\/jbjs.cc.21.00623","relation":{},"ISSN":["2160-3251"],"issn-type":[{"value":"2160-3251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1]]}}}