{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,6]],"date-time":"2026-11-06T22:39:18Z","timestamp":1794004758423,"version":"4.8.0"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T00:00:00Z","timestamp":1684886400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (SEMDJL2), is a rare bone dysplasia that results from hotspot (amino acids148\/149) mutations in <jats:italic>KIF22<\/jats:italic>. Clinically, affected individuals present with generalized joint laxity, limb malalignment, midface hypoplasia, gracile digits, postnatal short stature, and occasionally, tracheolaryngomalacia; additionally, radiological features include severe epi\u2010metaphyseal abnormalities and slender metacarpals. This report evaluates the progression of SEMDJL2 throughout the life of the oldest individual reported in the literature\u2014a 66\u2010year\u2010old man with a pathogenic <jats:italic>KIF22<\/jats:italic> variant (c.443C\u2009&gt;\u2009T, p.Pro148Leu). The proband developed many of the clinical and radiological alterations consistent with the presentation of other individuals in the literature. Interestingly, throughout his life, joint limitation progressed, beginning with knee and elbow stricture (year 20), and later, limitation of the shoulders, hips, ankles, and wrists (year 40). This differs from previous case reports, where joint limitation is identified in 1\u2010to\u20102 joints. Cumulatively, the progressive body\u2010wide joint limitation resulted in early retirement (year 45) and difficulty completing daily tasks and managing personal hygiene culminating in the need for assisted living (year 65). In conclusion, we report on the clinical and radiological developments of a 66\u2010year\u2010old man with SEMDJL2, that developed significant joint limitation in adulthood.<\/jats:p>","DOI":"10.1002\/ajmg.c.32053","type":"journal-article","created":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T06:49:23Z","timestamp":1684997363000},"page":"188-192","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66\u2010year\u2010old man"],"prefix":"10.1002","volume":"193","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9050-6061","authenticated-orcid":false,"given":"Alexander","family":"Beke","sequence":"first","affiliation":[{"name":"Department of Medical Genetics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina","family":"da Costa Silveira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taryn","family":"Athey","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kannu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Alberta  Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/2047487318806658"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.016"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M113.035600"},{"issue":"2","key":"e_1_2_5_5_1","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1111\/j.1532-849X.2009.00437.x","article-title":"Edentulism and comorbid factors","volume":"18","author":"Felton D. 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