{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T11:45:27Z","timestamp":1758282327491,"version":"3.44.0"},"reference-count":10,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,8,30]]},"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:p>Nail\u2013patella syndrome is a genetic disease with different phenotypes often affecting nails and knees. We present a woman with nail\u2013patella syndrome with instability and dysfunction of the distal radioulnar joint. This is a trait which, to our knowledge, has not previously been described in nail\u2013patella syndrome. In the clinical examination, the ulna head subluxed from the distal radioulnar joint when the wrist was fully supinated, creating a dorsal visible indentation and a volar protrusion of the ulnar head. The distal radioulnar joint instability of the case patient was quantified with a 3D visualisation and kinematic evaluation using dynamic radiostereometry analysis during a forearm rotation test and a press test. The investigation revealed limited pronation and hyper-supination during the forearm rotation compared with a healthy control. The dynamic radiostereometry analysis enabled a better understanding of the pathomechanics behind the instability. Patient-specific CT-derived bone models of ulna and radius revealed flat end dysplastic joint surfaces. The dynamic radiostereometry analysis proved to be a useful tool to describe, visualise and understand the pathomechanics of the case patient\u2019s distal radioulnar joint.<\/jats:p>","DOI":"10.1136\/bcr-2025-266971","type":"journal-article","created":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T05:05:20Z","timestamp":1758171920000},"page":"e266971","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Abnormal kinematics of the distal radioulnar joint due to flat bone dysplasia in nail\u2013patella syndrome: a 3D evaluation with dynamic radiostereometry"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-0439-0807","authenticated-orcid":false,"given":"Marie","family":"M\u00f8lmer","sequence":"first","affiliation":[{"name":"AutoRSA Research Group, Department of Orthopaedics, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janni Kj\u00e6rgaard","family":"Thillemann","sequence":"additional","affiliation":[{"name":"AutoRSA Research Group, Department of Orthopaedics, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"},{"name":"Department of Orthopaedics, University Clinic for Hand, Hip, and Knee Surgery, G\u00f8dstrup Hospital, G\u00f8dstrup, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emil Toft","family":"Petersen","sequence":"additional","affiliation":[{"name":"AutoRSA Research Group, Department of Orthopaedics, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maiken","family":"Stilling","sequence":"additional","affiliation":[{"name":"AutoRSA Research Group, Department of Orthopaedics, Aarhus University Hospital, Aarhus, Denmark"},{"name":"Department of Clinical Medicine, Aarhus University, Aarhus, Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,9,17]]},"reference":[{"key":"2025091722051056000_18.9.e266971.1","unstructured":"NPS;omim #161200. n.d. Available: https:\/\/omim.org\/entry\/161200"},{"key":"2025091722051056000_18.9.e266971.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.153"},{"key":"2025091722051056000_18.9.e266971.3","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1399-0004.1993.tb03832.x","article-title":"Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome","volume":"44","author":"Rizzo","year":"1993","journal-title":"Clin Genet"},{"key":"2025091722051056000_18.9.e266971.4","doi-asserted-by":"crossref","first-page":"375","DOI":"10.2340\/17453674.2022.2253","article-title":"Polyethylene liner motion in dual-mobility hip prostheses: static and dynamic radiostereometry in 16 patients 1 year after operation","volume":"93","author":"J\u00f8rgensen","year":"2022","journal-title":"Acta Orthop"},{"key":"2025091722051056000_18.9.e266971.5","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1016\/j.joca.2021.10.011","article-title":"Patients with knee osteoarthritis can be divided into subgroups based on tibiofemoral joint kinematics of gait \u2013 an exploratory and dynamic radiostereometric study","volume":"30","author":"Petersen","year":"2022","journal-title":"Osteoarthr Cartil"},{"key":"2025091722051056000_18.9.e266971.6","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1002\/jor.24488","article-title":"Elbow Biomechanics, Radiocapitellar Joint Pressure, and Interosseous Membrane Strain Before and After Radial Head Arthroplasty","volume":"38","author":"Hemmingsen","year":"2020","journal-title":"J Orthop Res"},{"key":"2025091722051056000_18.9.e266971.7","doi-asserted-by":"crossref","first-page":"574","DOI":"10.2340\/17453674.2022.3141","article-title":"Distal radioulnar joint kinematics before surgery and 12 months following open foveal reinsertion of the triangular fibrocartilage complex: comparison with the contralateral non-injured joint","volume":"93","author":"Thillemann","year":"2022","journal-title":"Acta Orthop"},{"key":"2025091722051056000_18.9.e266971.8","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1055\/s-0041-1740486","article-title":"Normal Values of Distal Radioulnar Joint Kinematics during a Dynamic Press Test","volume":"11","author":"Thillemann","year":"2022","journal-title":"J Wrist Surg"},{"key":"2025091722051056000_18.9.e266971.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0266-7681(96)80136-7"},{"key":"2025091722051056000_18.9.e266971.10","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1177\/17531934211054282","article-title":"The reliability of clinical assessment of distal radioulnar joint instability","volume":"47","author":"Pickering","year":"2022","journal-title":"J Hand Surg Eur Vol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-266971","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,18]],"date-time":"2025-09-18T05:05:21Z","timestamp":1758171921000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-266971"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9,17]]},"published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1136\/bcr-2025-266971"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-266971","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,9]]}}}