{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:08:26Z","timestamp":1760148506433,"version":"build-2065373602"},"reference-count":10,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T00:00:00Z","timestamp":1683849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Fibrodysplasia ossificans progressiva (FOP) is an exceptionally rare genetic disorder characterized by the progressive formation of heterotopic bone in soft tissues. Here, we present the radiological findings of an 18-year-old female diagnosed with FOP who had severe spinal and right-upper-limb abnormalities. Her SF-36 scores suggested significant impairment in physical function, affecting work and other regular daily activities. Radiographic evaluation with X-rays and CT scans revealed scoliosis and total fusion of almost all levels of the spine, with only a few disc spaces spared. A large mass of heterotopic bone was observed, corresponding to the location of the paraspinal muscles in the lumbar region, branching upwards and fusing with the scapulae on both sides. On the right side, this exuberant heterotopic bone mass fused with the humerus, resulting in a fixed right shoulder, while the rest of the upper and lower limbs are spared and have a range of motion. Our report highlights the extensive ossification that can manifest in patients with FOP, resulting in restricted mobility and a poor quality of life. While there is no definite treatment that can reverse the effects of the disease, preventing injuries and minimizing iatrogenic harm is of critical importance in this patient as inflammation is known to play a key role in triggering heterotopic bone. Meanwhile, ongoing research into therapeutic strategies holds the key to unlocking a potential cure for FOP in the future.<\/jats:p>","DOI":"10.3390\/diagnostics13101711","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T01:30:29Z","timestamp":1683855029000},"page":"1711","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Living with Fibrodysplasia Ossificans Progressiva: Radiological Images of a Patient with Extensive Heterotopic Ossification"],"prefix":"10.3390","volume":"13","author":[{"given":"Mohammed Mostafa","family":"Kotb","sequence":"first","affiliation":[{"name":"Department of Orthopedics and Traumatology, Reconstructive Microsurgery Unit, Assiut University School of Medicine, Assiut 71526, Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Usama Farghaly","family":"Omar","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Hand and Reconstructive Microsurgery Service, Khoo Teck Puat Hospital, Singapore 768828, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2747-4500","authenticated-orcid":false,"given":"Arun-Kumar","family":"Kaliya-Perumal","sequence":"additional","affiliation":[{"name":"Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore 636921, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"242","DOI":"10.5582\/irdr.2017.01055","article-title":"Fibrodysplasia ossificans progressiva: Basic understanding and experimental models","volume":"6","author":"Qi","year":"2017","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Ravazzolo, R., and Bocciardi, R. (2021). Genomic Context and Mechanisms of the ACVR1 Mutation in Fibrodysplasia Ossificans Progressiva. Biomedicines, 9.","DOI":"10.3390\/biomedicines9020154"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"e10172","DOI":"10.1002\/jbm4.10172","article-title":"Heterotopic Ossification: A Comprehensive Review","volume":"3","author":"Meyers","year":"2019","journal-title":"JBMR Plus"},{"key":"ref_4","first-page":"113","article-title":"Monitoring and Management of Fibrodysplasia Ossificans Progressiva: Current Perspectives","volume":"14","author":"Smilde","year":"2022","journal-title":"Orthop. Res. Rev."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Kitoh, H. (2020). Clinical Aspects and Current Therapeutic Approaches for FOP. Biomedicines, 8.","DOI":"10.3390\/biomedicines8090325"},{"key":"ref_6","first-page":"1","article-title":"The medical management of fibrodysplasia ossificans progressiva: Current treatment considerations","volume":"2","author":"Kaplan","year":"2021","journal-title":"Proc. Intl. Clin. Council FOP"},{"key":"ref_7","first-page":"437","article-title":"Fibrodysplasia ossificans progressiva: Diagnosis, management, and therapeutic horizons","volume":"10","author":"Pignolo","year":"2013","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1007\/s11832-015-0704-6","article-title":"Quality of life of patients with fibrodysplasia ossificans progressiva","volume":"9","year":"2015","journal-title":"J. Child. Orthop."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"612853","DOI":"10.3389\/fcell.2020.612853","article-title":"The Developmental Phenotype of the Great Toe in Fibrodysplasia Ossificans Progressiva","volume":"8","author":"Towler","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1749-6632.2011.06195.x","article-title":"Fibrodysplasia ossificans progressiva: A blueprint for metamorphosis","volume":"1237","author":"Kaplan","year":"2011","journal-title":"Ann. N. Y. Acad. Sci."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/10\/1711\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:33:26Z","timestamp":1760124806000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/10\/1711"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,12]]},"references-count":10,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,5]]}},"alternative-id":["diagnostics13101711"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics13101711","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2023,5,12]]}}}