{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:40:38Z","timestamp":1791351638924,"version":"4.3.1"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T00:00:00Z","timestamp":1746144000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T00:00:00Z","timestamp":1746144000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007565","name":"Consumers, Health, Agriculture and Food Executive Agency","doi-asserted-by":"publisher","award":["946831"],"award-info":[{"award-number":["946831"]}],"id":[{"id":"10.13039\/501100007565","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007565","name":"Consumers, Health, Agriculture and Food Executive Agency","doi-asserted-by":"publisher","award":["777215"],"award-info":[{"award-number":["777215"]}],"id":[{"id":"10.13039\/501100007565","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fibrous dysplasia\/McCune-Albright syndrome (FD\/MAS) is a rare and complex condition caused by somatic variants in the\n                    <jats:italic>GNAS<\/jats:italic>\n                    gene that lead to a wide clinical spectrum. The diagnostic process and therapeutic pathway vary per centre and therefore international harmonisation of data collection should be pursued. To understand the diagnostic pathways and clinical outcomes of patients with FD\/MAS reported on an electronic-reporting tool (e-REC) across European\u00a0centres\u00a0to guide\u00a0the develop a condition-specific module within the European Registries for Rare Endocrine and Bone conditions. Centres that reported new cases on e-REC between October 2019 and May 2021 were approached to complete a survey in May 2021. Fifty-eight cases were included. Median age at presentation was 20\u00a0years (range, 0, 72). Of the 58 included cases, the presentation type was isolated craniofacial FD\u00a0in 19 (33%), monostotic FD in 15 (26%), polyostotic FD in 10 (17%), and MAS in 13 (13%). Standardised questionnaires to assess pain and quality of life were used routinely in 21\/58 patients (36%). The majority of patients had more than one healthcare provider, with great diversity in the specialty of the coordinating physician. A standardised dataset module for FD\/MAS was developed through collaboration with the FD\/MAS study group, incorporating expert consensus and clinical insights. Key variables were identified to capture essential diagnostic, clinical, and patient-reported outcomes. The diagnostic path for patients with FD\/MAS across European expert centres is variable. The outcomes of this study allowed the building of the first international FD\/MAS-specific data collection.\n                  <\/jats:p>","DOI":"10.1007\/s00223-025-01379-5","type":"journal-article","created":{"date-parts":[[2025,5,2]],"date-time":"2025-05-02T12:46:00Z","timestamp":1746189960000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Developing a Standardised Dataset for Natural History Studies in Fibrous Dysplasia\/McCune-Albright Syndrome"],"prefix":"10.1007","volume":"116","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4209-9996","authenticated-orcid":false,"given":"Ana Luisa","family":"Priego Zurita","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-8171-7253","authenticated-orcid":false,"given":"Oana O.","family":"Bulaicon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-9477","authenticated-orcid":false,"given":"Jillian","family":"Bryce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nerea","family":"Arrieta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3278-9531","authenticated-orcid":false,"given":"Magdalena","family":"Caballero Campos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1731-2994","authenticated-orcid":false,"given":"Mariya","family":"Cherenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaby","family":"Doxiadis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1793-4603","authenticated-orcid":false,"given":"Corinna","family":"Grasemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Kassim","family":"Javaid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"McDevitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4777-560X","authenticated-orcid":false,"given":"Stijn W.","family":"van der Meeren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1312-4750","authenticated-orcid":false,"given":"Diana","family":"Ovejero Crespo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2113-6196","authenticated-orcid":false,"given":"Luisa","family":"de Sanctis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1154-3388","authenticated-orcid":false,"given":"Lothar","family":"Seefried","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3999-8854","authenticated-orcid":false,"given":"Annemarie A.","family":"Verrijn Stuart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6484-4371","authenticated-orcid":false,"given":"Daniele","family":"Tessaris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9550-1630","authenticated-orcid":false,"given":"Pieter Bas","family":"de Witte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8214-6385","authenticated-orcid":false,"given":"Roland","family":"Chapurlat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0689-5549","authenticated-orcid":false,"given":"S. Faisal","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5035-127X","authenticated-orcid":false,"given":"Natasha M.","family":"Appelman-Dijkstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,5,2]]},"reference":[{"issue":"1","key":"1379_CR1","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/1750-1172-3-12","volume":"3","author":"CE Dumitrescu","year":"2008","unstructured":"Dumitrescu CE, Collins MT (2008) McCune-Albright syndrome. 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Endocrine 71(3):555\u2013560","journal-title":"Endocrine"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-025-01379-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00223-025-01379-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-025-01379-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,26]],"date-time":"2025-12-26T13:21:49Z","timestamp":1766755309000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00223-025-01379-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,2]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["1379"],"URL":"https:\/\/doi.org\/10.1007\/s00223-025-01379-5","relation":{},"ISSN":["1432-0827"],"issn-type":[{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5,2]]},"assertion":[{"value":"5 March 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 April 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 May 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"ALPZ\n                      declares that Leiden University Medical Center received funding from the European\u202fUnion\u2019s Health Programme to host Project \u2018946831 \/\u202fEuRR-Bone\u2019 and project \u2018777215 \/ EuRRECa\u2019,\n                      OOBD\n                      declares that Leiden University Medical Center received funding from the European\u202fUnion\u2019s Health Programme to host Project \u2018946831 \/\u202fEuRR-Bone\u2019 and project \u2018777215 \/ EuRRECa\u2019,\n                      JB\n                      declares that University of Glasgow received funding from the European\u00a0Union\u2019s Health Programme to host project \u2018777215 \/ EuRRECa\u2019 and participate in project \u2018946831 \/\u00a0EuRR-Bone\u2019,\n                      NA\n                      \u00a0declares no competing interests,\n                      MCC\n                      declares no competing interests,\n                      MC\n                      declares that Leiden University Medical Center received funding from the European\u202fUnion\u2019s Health Programme to host Project \u2018946831 \/\u202fEuRR-Bone\u2019 and project \u2018777215 \/ EuRRECa\u2019,\n                      GD\n                      declares no competing interests,\n                      CG\n                      declares that Ruhr-University Bochum received funding from the European\u202fUnion\u2019s Health Programme to participate in Project \u2018946831 \/\u202fEuRR-Bone\u2019,\n                      MKJ\n                      \u00a0declares that University of Oxford received funding from the European\u202fUnion\u2019s Health Programme to participate in Project \u2018946831 \/\u202fEuRR-Bone\u2019,\n                      HM\n                      \u00a0declares that University of Glasgow received funding from the European\u202fUnion\u2019s Health Programme to host project \u2018777215 \/ EuRRECa\u2019 and participate in project \u2018946831 \/\u202fEuRR-Bone\u2019,\n                      SWM\n                      declares that Leiden University Medical Center received funding from the European\u202fUnion\u2019s Health Programme to host Project \u2018946831 \/\u202fEuRR-Bone\u2019 and project \u2018777215 \/ EuRRECa\u2019,\n                      DOC\n                      declares no competing interests,\n                      LDS\n                      declares no competing interests,\n                      LS\n                      declares no competing interests,\n                      AVS\n                      declares no competing interests,\n                      DT\n                      declares no competing interests,\n                      PBW\n                      declares that Leiden University Medical Center received funding from the European\u202fUnion\u2019s Health Programme to host Project \u2018946831 \/\u202fEuRR-Bone\u2019 and project \u2018777215 \/ EuRRECa\u2019,\n                      RC\n                      declares no competing interests,\n                      SFA\n                      declares that Leiden University Medical Center and University of Glasgow received funding from the European\u202fUnion\u2019s Health Programme to host Project \u2018946831 \/\u202fEuRR-Bone\u2019 and project \u2018777215 \/ EuRRECa\u2019,\n                      NMAD\n                      declares that Leiden University Medical Center received funding from the European\u202fUnion\u2019s Health Programme to host Project \u2018946831 \/\u202fEuRR-Bone\u2019 and project \u201877721 EuRRECa\u2019.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The project\u00a0was approved by the Information Governance authorities at the NHS Greater Glasgow & Clyde Health Board and the National Research Ethics Service in the UK (e-REC REC Reference 17\/WS\/0178; Core Registry REC Reference 18\/\/WS\/0205) and later at the Leiden University Medical Center (e-REC project ID 133036; Core Registry protocol nWMODIV2_2024018, project ID 130850).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}],"article-number":"68"}}