{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:44:00Z","timestamp":1787755440815,"version":"build-2784847793"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\n Case:<\/jats:title>\n \n An Indian girl, diagnosed with osteoid osteoma of tibia and chronic recurrent multifocal osteomyelitis at the age of 6 years, presented 3 years later with slipped capital femoral epiphysis (SCFE) and was found to have a mutation in the\n GALNT3<\/jats:italic>\n gene associated with hyperphosphatemic familial tumoral calcinosis. She underwent in situ screw fixation with prophylactic pinning of the other hip. At a 2-year follow-up, the patient had a good range of motion and no radiological signs of osteonecrosis of the femoral head.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n \n GALNT3<\/jats:italic>\n gene mutation with SCFE is a previously unreported association, emphasizing the need for a multidisciplinary approach.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.2106\/jbjs.cc.25.00192","type":"journal-article","created":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T18:01:14Z","timestamp":1760637674000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Slipped Capital Femoral Epiphysis in a Case of Hyperphosphatemic Familial Tumoral Calcinosis"],"prefix":"10.2106","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-0272-3757","authenticated-orcid":false,"given":"Sreekanth","family":"Kashayi-Chowdojirao","sequence":"first","affiliation":[{"name":"Department of Orthopaedics, Nizam's Institute of Medical Sciences, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3836-0668","authenticated-orcid":false,"given":"Safia","family":"Sultana","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Nizam's Institute of Medical Sciences, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7122-3197","authenticated-orcid":false,"given":"Prajnya","family":"Ranganath","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,10]]},"reference":[{"issue":"4","key":"bib1-20251016","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1002\/ajmg.a.33337","article-title":"Clinical variability of familial tumoral calcinosis caused by novel GALNT3 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epiphysis","volume":"33","author":"Gourineni","year":"2013","journal-title":"J Pediatr Orthop."},{"issue":"5","key":"bib9-20251016","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"issue":"2","key":"bib10-20251016","doi-asserted-by":"crossref","first-page":"170","DOI":"10.3109\/03009742.2014.958100","article-title":"GALNT3 gene mutation-associated chronic recurrent multifocal osteomyelitis and familial hyperphosphatemic familial tumoral calcinosis","volume":"44","author":"Demellawy","year":"2015","journal-title":"Scand J Rheumatol."},{"issue":"1","key":"bib11-20251016","doi-asserted-by":"crossref","first-page":"130","DOI":"10.24953\/turkjped.2019.01.022","article-title":"Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis","volume":"61","author":"Albaramki","year":"2019","journal-title":"Turk J Pediatr."},{"issue":"1","key":"bib12-20251016","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1038\/ijos.2015.1","article-title":"Fibroblast growth factor 23 and bone mineralisation","volume":"7","author":"Guo","year":"2015","journal-title":"Int J Oral Sci."},{"issue":"5","key":"bib13-20251016","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1302\/0301-620X.86B5.14397","article-title":"Slipped capital femoral epiphysis in skeletally immature patients","volume":"86","author":"Guzzanti","year":"2004","journal-title":"J Bone Jt Surg Br."},{"issue":"3","key":"bib14-20251016","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1007\/s11832-010-0260-z","article-title":"In situ screw fixation of slipped capital femoral epiphysis with a novel approach: a double-cohort controlled study","volume":"4","author":"Pring","year":"2010","journal-title":"J Child Orthop."},{"issue":"1","key":"bib15-20251016","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.surge.2016.04.001","article-title":"Evidence based treatment for unstable slipped upper femoral epiphysis: systematic review and exploratory patient level analysis","volume":"16","author":"Alshryda","year":"2018","journal-title":"Surgeon."}],"container-title":["JBJS Case 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