{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T14:49:56Z","timestamp":1787755796095,"version":"build-2784847793"},"reference-count":15,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\n Case:<\/jats:title>\n \n Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant musculoskeletal disorder with progressive heterotopic ossification within soft connective tissues causing ankyloses and unique skeletal malformations of the big toes, which represent a birth hallmark for the disease. The classic variant is c.617G>A (p.Arg206His). We report 2 atypical FOP cases showing severe digit reduction, associated with a c.983G>A (p.Gly328Glu) variant in exon 8 of the\n ACVR1<\/jats:italic>\n gene.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n FOP should be ruled out in patients presenting with restricted movements of joints and spine and reduction of digits by clinical examination and molecular genetic analysis to allow preventive steps and slow clinical deterioration.<\/jats:p>\n <\/jats:sec>","DOI":"10.2106\/jbjs.cc.25.00226","type":"journal-article","created":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T19:00:34Z","timestamp":1757098834000},"update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Atypical Fibrodysplasia Ossificans Progressiva with G328E Variant and Digit Reduction Abnormalities"],"prefix":"10.2106","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4494-222X","authenticated-orcid":false,"given":"Vrisha","family":"Madhuri","sequence":"first","affiliation":[{"name":"Department of Paediatric Orthopaedics, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Centre for Stem Cell Research, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Department of Paediatric Orthopaedics, Amara Hospital, Tirupati, Andhra Pradesh, 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 Orthopaedics, Christian Medical College, Vellore, Tamil Nadu, India"},{"name":"Centre for Stem Cell Research, 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"}]}],"member":"276","published-online":{"date-parts":[[2025,7]]},"reference":[{"issue":"3","key":"bib1-20250905","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1002\/humu.20868","article-title":"Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1","volume":"30","author":"Kaplan","year":"2009","journal-title":"Hum Mutat."},{"issue":"5","key":"bib2-20250905","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1038\/ng1783","article-title":"A recurrent mutation in the BMP type I receptor ACVR1 causes inherited 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(FOP)","volume":"470","author":"Towler","year":"2021","journal-title":"Dev Biol."},{"issue":"12","key":"bib9-20250905","doi-asserted-by":"crossref","first-page":"2644","DOI":"10.1007\/s00415-012-6563-x","article-title":"CNS demyelination in fibrodysplasia ossificans progressiva","volume":"259","author":"Kan","year":"2012","journal-title":"J Neurol."},{"issue":"2","key":"bib11-20250905","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1111\/j.1399-0004.2009.01256.x","article-title":"Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients","volume":"77","author":"Carvalho","year":"2010","journal-title":"Clin Genet."},{"issue":"1","key":"bib12-20250905","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1302\/0301-620X.64B1.7068725","article-title":"Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients","volume":"64","author":"Connor","year":"1982","journal-title":"J Bone Joint Surg Br."},{"issue":"3","key":"bib13-20250905","doi-asserted-by":"crossref","first-page":"e5005","DOI":"10.1371\/journal.pone.0005005","article-title":"Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients","volume":"4","author":"Petrie","year":"2009","journal-title":"PLoS One."},{"key":"bib14-20250905","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1196\/annals.1346.008","article-title":"Dysregulation of the BMP-4 signaling pathway in fibrodysplasia ossificans progressiva","volume":"1068","author":"Kaplan","year":"2006","journal-title":"Ann N Y Acad Sci."},{"issue":"3","key":"bib15-20250905","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1242\/dev.127.3.621","article-title":"The type I BMP receptor BMPRIB is required for chondrogenesis in the mouse limb","volume":"127","author":"Yi","year":"2000","journal-title":"Development."},{"issue":"5","key":"bib16-20250905","doi-asserted-by":"crossref","first-page":"e1295","DOI":"10.1542\/peds.2007-1980","article-title":"Early diagnosis of fibrodysplasia ossificans progressiva","volume":"121","author":"Kaplan","year":"2008","journal-title":"Pediatrics."}],"container-title":["JBJS Case Connector"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.25.00226","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T13:53:34Z","timestamp":1787752414000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.2106\/JBJS.CC.25.00226"}},"subtitle":["A Report of 2 Cases"],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":15,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.2106\/jbjs.cc.25.00226","relation":{},"ISSN":["2160-3251"],"issn-type":[{"value":"2160-3251","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7]]}}}