{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T05:42:59Z","timestamp":1775454179345,"version":"3.50.1"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,7,19]],"date-time":"2023-07-19T00:00:00Z","timestamp":1689724800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>This study reported a family with most members affected by Czech dysplasia. We examined the patients\u2019 clinical, laboratory, and imaging characteristics and evaluated their functional capacity using the Stanford Health Assessment Questionnaire-Disability Index.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The method used was case series description and literature review.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>This study showed that the pathogenic variant c.823C&amp;gt;T in the COL2A1 gene, which is a characteristic of Czech dysplasia, was found in 12 Brazilian individuals. Half of the patients in this family met the criteria for rheumatoid arthritis (RA) based on the 2010 American College of Rheumatology\/European League Against Rheumatism classification criteria. Patients had arthritis in their hand joints, synovitis detected by ultrasound, and alterations in inflammatory tests. The Stanford Health Assessment Questionnaire-Disability Index assessment revealed that all patients exhibited moderate-to-severe functional disability. What distinguish Czech dysplasia from RA are an autosomal dominant inheritance pattern, platyspondyly, sensorineural hearing loss, and shortening of the metatarsal bones.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>It is important to consider Czech dysplasia as a potential differential diagnosis for RA. This autosomal dominant skeletal dysplasia is associated with normal height, short metatarsals, platyspondyly, hearing loss, enlarged epiphyses, and precocious osteoarthritis. Inflammatory findings such as arthritis, synovitis, and alteration of inflammatory markers may also be present in individuals with Czech dysplasia.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/mr\/road070","type":"journal-article","created":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T12:05:52Z","timestamp":1690286752000},"page":"705-710","source":"Crossref","is-referenced-by-count":3,"title":["Czech dysplasia mimicking rheumatoid arthritis: Case series and\u00a0literature review"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1639-306X","authenticated-orcid":false,"given":"Larissa Aniceto","family":"Moreira","sequence":"first","affiliation":[{"name":"Department of Internal Medicine-Rheumatology, SARAH Network of Rehabilitation Hospitals , Bras\u00edlia, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Rocha","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, SARAH Network of Rehabilitation Hospitals , Bras\u00edlia, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Savana Camilla Lima","family":"Santos","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, SARAH Network of Rehabilitation Hospitals , Bras\u00edlia, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia Costa E","family":"Silva","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, SARAH Network of Rehabilitation Hospitals , Bras\u00edlia, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno Silva Araujo","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Health Sciences Center, UNIFESO , Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernardo Matos da","family":"Cunha","sequence":"additional","affiliation":[{"name":"Cognitive Axis Unit, UNICEPLAC, Gama , Bras\u00edlia, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina Costa","family":"Silveira","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Medical Genetics, Translational Medicine Department, Faculty of Medical Sciences, University of Campinas , S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Dora Jazmin","family":"Lacarrubba-Flores","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Medical Genetics, Translational Medicine Department, Faculty of Medical Sciences, University of Campinas , S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise Pontes","family":"Cavalcanti","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Medical Genetics, Translational Medicine Department, Faculty of Medical Sciences, University of Campinas , S\u00e3o Paulo, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Licia Maria Henrique da","family":"Mota","sequence":"additional","affiliation":[{"name":"Department of Medical Science, University of Brasilia , Asa Norte-Bras\u00edlia, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,7,19]]},"reference":[{"key":"2024070612132947200_R1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/s00256-003-0708-z","article-title":"Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes","volume":"33","author":"Marik","year":"2004","journal-title":"Skeletal Radiol"},{"key":"2024070612132947200_R2","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1002\/ajmg.a.30132","article-title":"Czech dysplasia metatarsal type","volume":"129A","author":"Kozlowski","year":"2004","journal-title":"Am J Med Genet 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