{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:45:31Z","timestamp":1792154731920,"version":"4.4.0"},"reference-count":55,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Endocrinolog\u00eda, Diabetes y Nutrici\u00f3n (English ed.)"],"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1016\/j.endien.2026.501803","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T11:23:23Z","timestamp":1790335403000},"page":"501803","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"title":["Executive summary of the OSEOSEENconsensus document on the diagnosis and management of rare bone diseases"],"prefix":"10.1016","volume":"73","author":[{"given":"Beatriz","family":"Garc\u00eda-Fontana","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Garc\u00eda-Fontana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Dolores","family":"L\u00f3pez Robles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ver\u00f3nica","family":"\u00c1vila-Rubio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Mart\u00ednez D\u00edaz-Guerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Rodr\u00edguez Ortega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariela","family":"Varsavsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Rosa","family":"Alhambra Exp\u00f3sito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Garc\u00eda-Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Cort\u00e9s-Berdonces","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Mar\u00edn D\u00edez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Huguet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esteban","family":"J\u00f3dar-Gimeno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Mu\u00f1oz-Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.endien.2026.501803_bib0005","series-title":"Burosumab for treating X-linked hypophosphataemia in adults","year":"2024"},{"key":"10.1016\/j.endien.2026.501803_bib0010","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1038\/s41581-024-00926-x","article-title":"Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia","volume":"21","author":"Haffner","year":"2025","journal-title":"Nat Rev Nephrol"},{"key":"10.1016\/j.endien.2026.501803_bib0015","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s12325-019-01184-1","article-title":"Hypophosphataemic rickets: diagnosis algorithm-how not to make a mistake","volume":"37","author":"Gonz\u00e1lez-Lamu\u00f1o","year":"2020","journal-title":"Adv Ther"},{"key":"10.1016\/j.endien.2026.501803_bib0020","doi-asserted-by":"crossref","first-page":"738","DOI":"10.3390\/biomedicines9070738","article-title":"Rickets in children: an update","volume":"9","author":"Gentile","year":"2021","journal-title":"Biomedicines"},{"key":"10.1016\/j.endien.2026.501803_bib0025","doi-asserted-by":"crossref","first-page":"e1798","DOI":"10.1210\/clinem\/dgaa064","article-title":"Osteoarthritis, osteophytes, and enthesophytes affect biomechanical function in adults with X-linked hypophosphatemia","volume":"105","author":"Steele","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.endien.2026.501803_bib0030","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.beem.2018.06.004","article-title":"Phosphate homeostasis disorders","volume":"32","author":"Christov","year":"2018","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.endien.2026.501803_bib0035","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1210\/jc.2011-1319","article-title":"Approach to the hypophosphatemic patient","volume":"97","author":"Imel","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.endien.2026.501803_bib0040","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.ajhg.2010.01.006","article-title":"Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets","volume":"86","author":"Lorenz-Depiereux","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.endien.2026.501803_bib0045","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1056\/NEJM198503073121003","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria","volume":"312","author":"Tieder","year":"1985","journal-title":"N Engl J Med"},{"key":"10.1016\/j.endien.2026.501803_bib0050","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1210\/endrev\/bnac026","article-title":"Tumor-induced osteomalacia: a comprehensive review","volume":"44","author":"Minisola","year":"2023","journal-title":"Endocr Rev"},{"key":"10.1016\/j.endien.2026.501803_bib0055","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.endonu.2015.10.011","article-title":"Tumour-induced osteomalacia: an emergent paraneoplastic syndrome","volume":"63","author":"Alonso","year":"2016","journal-title":"Endocrinol Nutr"},{"key":"10.1016\/j.endien.2026.501803_bib0060","doi-asserted-by":"crossref","DOI":"10.3390\/ijms22094303","article-title":"Hypophosphatasia: a unique disorder of bone mineralization","volume":"22","author":"Villa-Su\u00e1rez","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.endien.2026.501803_bib0065","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.14","article-title":"Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment","volume":"12","author":"Whyte","year":"2016","journal-title":"Nat Rev Endocrinol"},{"key":"10.1016\/j.endien.2026.501803_bib0070","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1097\/MOP.0000000000000813","article-title":"Osteogenesis imperfecta: advancements in genetics and treatment","volume":"31","author":"Rossi","year":"2019","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.endien.2026.501803_bib0075","doi-asserted-by":"crossref","DOI":"10.1093\/jbmrpl\/ziae112","article-title":"Osteoclast indices in osteogenesis imperfecta: systematic review and meta-analysis","volume":"8","author":"Aksornthong","year":"2024","journal-title":"JBMR Plus"},{"key":"10.1016\/j.endien.2026.501803_bib0080","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1007\/s11914-023-00823-5","article-title":"Early life management of osteogenesis imperfecta","volume":"21","author":"Arundel","year":"2023","journal-title":"Curr Osteoporos Rep"},{"key":"10.1016\/j.endien.2026.501803_bib0085","doi-asserted-by":"crossref","first-page":"15591","DOI":"10.3390\/ijms242115591","article-title":"A rare skeletal disorder, fibrous dysplasia: a review of its pathogenesis and therapeutic prospects","volume":"24","author":"Kim","year":"2023","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.endien.2026.501803_bib0090","series-title":"Fibrous Dysplasia. Endotext [Internet]","author":"Boyce","year":"2019"},{"key":"10.1016\/j.endien.2026.501803_bib0095","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1007\/s11914-016-0317-0","article-title":"Fibrous dysplasia\/McCune-Albright syndrome: clinical and translational perspectives","volume":"14","author":"Robinson","year":"2016","journal-title":"Curr Osteoporos Rep"},{"key":"10.1016\/j.endien.2026.501803_bib0100","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1002\/jbmr.2728","article-title":"The natural history of flare-ups in Fibrodysplasia Ossificans Progressiva (FOP): a comprehensive global assessment","volume":"31","author":"Pignolo","year":"2016","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.endien.2026.501803_bib0105","unstructured":"Kaplan F.S., Mukaddam M.A., Baujat G., Brown M., Cali A., Cho T.-J., Crowe C., Cunto C.L.D., Delai P., Diecidue R.J., Rocco M.D., Eekhoff E.M.W., Friedman C., Grunwald Z., Haga N., Hsiao E.C., Keen R., Kitterman J., Levy C., Morhart R., Netelenbos J.C., Scott C., Shore E.M., Zasloff M.A., Zhang K., Pignolo RJ. THE MEDICAL MANAGEMENT OF FIBRODYSPLASIA OSSIFICANS PROGRESSIVA: CURRENT TREATMENT CONSIDERATIONS n.d."},{"key":"10.1016\/j.endien.2026.501803_bib0110","series-title":"GeneReviews\u00ae","article-title":"Camurati-Engelmann Disease","author":"Wallace","year":"1993"},{"key":"10.1016\/j.endien.2026.501803_bib0115","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1002\/ajmg.a.36431","article-title":"MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type","volume":"164A","author":"Bonaf\u00e9","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.endien.2026.501803_bib0120","series-title":"GeneReviews\u00ae","article-title":"Craniometaphyseal Dysplasia, Autosomal Dominant","author":"Reichenberger","year":"1993"},{"key":"10.1016\/j.endien.2026.501803_bib0125","doi-asserted-by":"crossref","first-page":"2839","DOI":"10.1056\/NEJMra040952","article-title":"Osteopetrosis","volume":"351","author":"Tolar","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1016\/j.endien.2026.501803_bib0130","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.anpedi.2018.10.003","article-title":"Osteopoikilosis. A case report","volume":"91","author":"Sevilla Homedes","year":"2019","journal-title":"An Pediatr (Engl Ed)"},{"key":"10.1016\/j.endien.2026.501803_bib0135","doi-asserted-by":"crossref","first-page":"2823","DOI":"10.3390\/jcm10132823","article-title":"Imaging review of pediatric benign osteocytic tumors and latest updates on management","volume":"10","author":"Shah","year":"2021","journal-title":"J Clin Med"},{"key":"10.1016\/j.endien.2026.501803_bib0140","first-page":"243","article-title":"Melorheostosis: a rare sclerosing bone dysplasia. Usefulness of bone scintigraphy","volume":"38","author":"Marqu\u00e9s Aparicio","year":"2019","journal-title":"Rev Esp Med Nucl Imagen Mol (Engl Ed)"},{"key":"10.1016\/j.endien.2026.501803_bib0145","doi-asserted-by":"crossref","first-page":"36","DOI":"10.4103\/0972-3919.84612","article-title":"Ribbing disease: uncommon cause of a common symptom","volume":"26","author":"Damle","year":"2011","journal-title":"Indian J Nucl Med"},{"key":"10.1016\/j.endien.2026.501803_bib0150","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1111\/cge.13591","article-title":"Pycnodysostosis: natural history and management guidelines from 27 French cases and a literature review","volume":"96","author":"Bizaoui","year":"2019","journal-title":"Clin Genet"},{"key":"10.1016\/j.endien.2026.501803_bib0155","series-title":"GeneReviews\u00ae","article-title":"Osteopathia Striata with Cranial Sclerosis","author":"Gear","year":"1993"},{"key":"10.1016\/j.endien.2026.501803_bib0160","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1056\/NEJMoa013444","article-title":"High bone density due to a mutation in LDL-receptor-related protein 5","volume":"346","author":"Boyden","year":"2002","journal-title":"N Engl J Med"},{"key":"10.1016\/j.endien.2026.501803_bib0165","doi-asserted-by":"crossref","first-page":"2136","DOI":"10.1002\/ajmg.a.62194","article-title":"Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome","volume":"185","author":"Hildebrandt","year":"2021","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.endien.2026.501803_bib0170","series-title":"GeneReviews\u00ae","article-title":"SOST-Related Sclerosing Bone Dysplasias","author":"Appelman-Dijkstra","year":"1993"},{"key":"10.1016\/j.endien.2026.501803_bib0175","unstructured":"Orphanet: Sclerosteosis n.d. http:\/\/www.orpha.net\/en\/disease\/detail\/3152?mode=name&name=esclerosteosis (Accessed June 20, 2025)."},{"key":"10.1016\/j.endien.2026.501803_bib0180","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1016\/j.kint.2018.08.022","article-title":"FGF23 blockade coming to clinical practice","volume":"94","author":"Emma","year":"2018","journal-title":"Kidney Int"},{"key":"10.1016\/j.endien.2026.501803_bib0185","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1210\/clinem\/dgae890","article-title":"Systematic review: efficacy of medical therapy on outcomes important to adult patients with X-linked hypophosphatemia","volume":"110","author":"Ali","year":"2025","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.endien.2026.501803_bib0190","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1056\/NEJMoa1714641","article-title":"Burosumab therapy in children with X-Linked hypophosphatemia","volume":"378","author":"Carpenter","year":"2018","journal-title":"N Engl J Med"},{"key":"10.1016\/j.endien.2026.501803_bib0195","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1097\/RLU.0000000000000854","article-title":"68Ga DOTATATE PET\/CT is an accurate imaging modality in the detection of culprit tumors causing osteomalacia","volume":"40","author":"Zhang","year":"2015","journal-title":"Clin Nucl Med"},{"key":"10.1016\/j.endien.2026.501803_bib0200","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1002\/jbmr.4233","article-title":"Burosumab for the treatment of tumor-induced osteomalacia","volume":"36","author":"Jan de Beur","year":"2021","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.endien.2026.501803_bib0205","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1515\/cclm-2023-0427","article-title":"Mild hypophosphatasia may be twice as prevalent as previously estimated: an effective clinical algorithm to detect undiagnosed cases","volume":"62","author":"Gonz\u00e1lez-Cejudo","year":"2024","journal-title":"Clin Chem Lab Med"},{"key":"10.1016\/j.endien.2026.501803_bib0210","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2022.863940","article-title":"Characterization of genetic variants of uncertain significance for the ALPL gene in patients with adult hypophosphatasia","volume":"13","author":"Sanabria-de la Torre","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"key":"10.1016\/j.endien.2026.501803_bib0215","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2024.104926","article-title":"Imaging in osteogenesis imperfecta: where we are and where we are going","volume":"68","author":"Gazzotti","year":"2024","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.endien.2026.501803_bib0220","article-title":"Management of multiple fractures in a preadolescent with osteogenesis imperfecta types III-IV","volume":"16","author":"Somankar","year":"2024","journal-title":"Cureus"},{"key":"10.1016\/j.endien.2026.501803_bib0225","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1186\/s13023-024-03345-0","article-title":"Osteogenesis imperfecta: a study of the patient journey in 13 European countries","volume":"19","author":"Westerheim","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.endien.2026.501803_bib0230","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1186\/s13018-024-04682-3","article-title":"Osteofibrous dysplasia: a narrative review","volume":"19","author":"Liu","year":"2024","journal-title":"J Orthop Surg Res"},{"key":"10.1016\/j.endien.2026.501803_bib0235","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1097\/MED.0000000000000847","article-title":"Fibrous dysplasia in children and its management","volume":"31","author":"Gun","year":"2024","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"10.1016\/j.endien.2026.501803_bib0240","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1007\/s11154-023-09832-2","article-title":"Efficacy of antiresorptive agents in fibrous dysplasia and McCune Albright syndrome, a systematic review and meta-analysis","volume":"24","author":"Bertin","year":"2023","journal-title":"Rev Endocr Metab Disord"},{"key":"10.1016\/j.endien.2026.501803_bib0245","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1016\/j.eprac.2022.07.012","article-title":"Denosumab use in adults with fibrous dysplasia: case reports and review of the literature","volume":"28","author":"Hung","year":"2022","journal-title":"Endocr Pract"},{"key":"10.1016\/j.endien.2026.501803_bib0250","article-title":"Suppression of heterotopic ossification in fibrodysplasia ossificans progressiva using AAV gene delivery","volume":"13","author":"Yang","year":"2022","journal-title":"Nat Commun"},{"key":"10.1016\/j.endien.2026.501803_bib0255","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.bone.2017.08.012","article-title":"[18F]NaF PET\/CT scan as an early marker of heterotopic ossification in fibrodysplasia ossificans progressiva","volume":"109","author":"Eekhoff","year":"2018","journal-title":"Bone"},{"key":"10.1016\/j.endien.2026.501803_bib0260","doi-asserted-by":"crossref","DOI":"10.1002\/jbm4.10363","article-title":"Diagnostic value of magnetic resonance imaging in fibrodysplasia ossificans progressiva","volume":"4","author":"Botman","year":"2020","journal-title":"JBMR Plus"},{"key":"10.1016\/j.endien.2026.501803_bib0265","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/jbmr.4762","article-title":"Reduction of New Heterotopic Ossification (HO) in the open-label, phase 3 MOVE trial of palovarotene for Fibrodysplasia Ossificans Progressiva (FOP)","volume":"38","author":"Pignolo","year":"2023","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.endien.2026.501803_bib0270","first-page":"91","article-title":"S\u00edndrome de Camurati-Engelmann","volume":"12","author":"Garcia Armario","year":"2011","journal-title":"Semin Fund Esp Reumatol"},{"key":"10.1016\/j.endien.2026.501803_bib0275","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/j.1399-0004.1983.tb00431.x","article-title":"Autosomal dominant craniometaphyseal dysplasia. Clinical variability","volume":"23","author":"Carnevale","year":"1983","journal-title":"Clin Genet"}],"container-title":["Endocrinolog\u00eda, Diabetes y Nutrici\u00f3n (English ed.)"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2530018026001654?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2530018026001654?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:49:34Z","timestamp":1792151374000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2530018026001654"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":55,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,10]]}},"alternative-id":["S2530018026001654"],"URL":"https:\/\/doi.org\/10.1016\/j.endien.2026.501803","relation":{},"ISSN":["2530-0180"],"issn-type":[{"value":"2530-0180","type":"print"}],"subject":[],"published":{"date-parts":[[2026,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Executive summary of the OSEOSEENconsensus document on the diagnosis and management of rare bone diseases","name":"articletitle","label":"Article Title"},{"value":"Endocrinolog\u00eda, Diabetes y Nutrici\u00f3n (English ed.)","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.endien.2026.501803","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.endinu.2026.501803","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 SEEN and SED. Published by Elsevier Espa\u00f1a, S.L.U. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"501803"}}