{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:42:53Z","timestamp":1787755373812,"version":"build-2784847793"},"reference-count":7,"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 \n Bohring-Opitz syndrome is characterized by facial dysmorphism, intellectual disability, specific upper-limb posturing, and developmental delay. We report a case of 14-year-old girl with bilateral hip pain and loss of mobility. Clinical exome sequencing showed a proband with a heterozygous pathogenic nonsense variant in\n ASXL1<\/jats:italic>\n gene.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n The Perthes-like clinical and radiological features in the hip and the absence of classical upper-limb features are a new phenotype and hence presented here.<\/jats:p>\n <\/jats:sec>","DOI":"10.2106\/jbjs.cc.23.00433","type":"journal-article","created":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T14:00:58Z","timestamp":1704463258000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Perthes-Like Disorder in a Child with Atypical Bohring-Opitz Syndrome"],"prefix":"10.2106","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-3533-7926","authenticated-orcid":false,"given":"Mir Tariq","family":"Altaf","sequence":"first","affiliation":[{"name":"Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1895-6997","authenticated-orcid":false,"given":"Madhavi","family":"Kandagaddala","sequence":"additional","affiliation":[{"name":"Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8829-5445","authenticated-orcid":false,"given":"Agnes","family":"Selina","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Centre for Stem Cell Research, Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4494-222X","authenticated-orcid":false,"given":"Vrisha","family":"Madhuri","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedic, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Centre for Stem Cell Research, Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,1]]},"reference":[{"issue":"5","key":"bib1-20240805","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<438::AID-AJMG2>3.0.CO;2-A","article-title":"Severe end of Opitz trigonocephaly (C) syndrome or new syndrome?","volume":"85","author":"Bohring","year":"1999","journal-title":"Am J Med Genet."},{"issue":"4","key":"bib2-20240805","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1002\/ajmg.a.35265","article-title":"Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations","volume":"158A","author":"Magini","year":"2012","journal-title":"Am J Med Genet A."},{"issue":"5","key":"bib3-20240805","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1038\/ejhg.2010.234","article-title":"Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis","volume":"19","author":"Hastings","year":"2011","journal-title":"Eur J Hum Genet."},{"issue":"8","key":"bib4-20240805","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1038\/ng.868","article-title":"De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome","volume":"43","author":"Hoischen","year":"2011","journal-title":"Nat Genet."},{"issue":"9","key":"bib5-20240805","doi-asserted-by":"crossref","first-page":"2122","DOI":"10.1002\/ajmg.a.37131","article-title":"Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance","volume":"167A","author":"Russell","year":"2015","journal-title":"Am J Med Genet A."},{"key":"bib6-20240805","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/S0378-1119(03)00430-X","article-title":"A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11","volume":"306","author":"Fisher","year":"2003","journal-title":"Gene."},{"issue":"3","key":"bib7-20240805","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1097\/MCD.0000000000000126","article-title":"A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome","volume":"25","author":"Arunachal","year":"2016","journal-title":"Clin Dysmorphol."}],"container-title":["JBJS Case Connector"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.23.00433","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:41:56Z","timestamp":1787751716000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.23.00433"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.2106\/jbjs.cc.23.00433","relation":{},"ISSN":["2160-3251"],"issn-type":[{"value":"2160-3251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1]]}}}