{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T20:15:30Z","timestamp":1790280930211,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,12,12]],"date-time":"2006-12-12T00:00:00Z","timestamp":1165881600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Skeletal dysplasias induced by mutations in the collagen 2 gene (the so\u2010called \u201ctype 2 collagenopathies\u201d) form a wide spectrum in severity and are distinguished by subtle clinical and radiographic differential signs. The unifying features are predominant involvement of the vertebral bodies and the epiphyses of the long bones (\u201cspondylo\u2010epiphyseal\u201d pattern). A mild degree of metaphyseal dysplasia can be seen in the so\u2010called Strudwick variant of spondyloepimetaphyseal dysplasia and is generally mild or absent in other forms.<\/jats:p><jats:p>We report here on four individuals with <jats:italic>COL2A1<\/jats:italic> mutations associated with marked metaphyseal involvement with only mild epiphyseal and spondylar changes. One patient who carried a Gly283Arg substitution had a pattern of metaphyseal dysplasia that corresponded precisely to what was termed \u201cMurdoch type metaphyseal dysplasia\u201d in 1960s and was renamed Strudwick type SEMD in 1980s; the second patient carried a Gly181Arg substitution and had severe metaphyseal dysplasia with fractures at the metaphyses reminiscent of the \u201ccorner fractures\u201d or Sutcliffe type spondylometaphyseal dysplasia. The third patient also had major metaphyseal involvement but more epiphyseal changes than the others in this study and had a Gly922Arg mutation in <jats:italic>COL2A1<\/jats:italic>. The final patient had a small in\u2010frame deletion and unusually ballooned and distorted metaphyses.<\/jats:p><jats:p>While it remains true that most individuals with <jats:italic>COL2A1<\/jats:italic> mutations have chondrodysplasia with a spondylo\u2010epiphyseal pattern, metaphyseal involvement is not incompatible with a <jats:italic>COL2A1<\/jats:italic> dysplasia and mutation analysis can be indicated. The observation of these individuals with metaphyseal dysplasia indicates that the phenotypic spectrum associated with mutations in type 2 collagen, the main cartilage protein, is even wider than hitherto assumed. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31516","type":"journal-article","created":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T03:47:58Z","timestamp":1165981678000},"page":"161-167","source":"Crossref","is-referenced-by-count":36,"title":["COL2A1\u2013related skeletal dysplasias with predominant metaphyseal involvement"],"prefix":"10.1002","volume":"143A","author":[{"given":"Kerstin","family":"Walter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mojca","family":"Tansek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward S.","family":"Tobias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Coucke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Hyland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Iwaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,12,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130304"},{"key":"e_1_2_6_3_1","unstructured":"BaileyJA.1973.Disproportionate short stature diagnosis and management. 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