{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T06:15:20Z","timestamp":1696659320810},"reference-count":14,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2015,8,6]],"date-time":"2015-08-06T00:00:00Z","timestamp":1438819200000},"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":[[2015,12]]},"abstract":"<jats:sec><jats:label \/><jats:p>Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma\u2010like lesions and anisospondyly. The former leads to discrepancies in limb length, and the latter, to progressive kyphoscoliosis. Two recent cases have highlighted the genetic heterogeneity of DSC, one demonstrating the presence and, the other, the absence of a <jats:italic>COL2A1<\/jats:italic> mutation. This may have important clinical implications, for example, screening for complications including atlanto\u2010axial instability associated with type II collagenopathies, as well as long\u2010term patient management. We report on a case with radiographic features of DSC with overlap into the type II collagenopathy spondyloepimetaphyseal dysplasia, Strudwick type, who was found to carry a novel heterozygous mutation in the <jats:italic>COL2A1<\/jats:italic> gene. Testing for <jats:italic>COL2A1<\/jats:italic> mutations should be performed in all patients with radiological features of DSC. Further research is needed to identify the underlying molecular cause in cases where no <jats:italic>COL2A1<\/jats:italic> mutation is identified. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37282","type":"journal-article","created":{"date-parts":[[2015,8,6]],"date-time":"2015-08-06T19:47:39Z","timestamp":1438890459000},"page":"3103-3107","source":"Crossref","is-referenced-by-count":3,"title":["Dysspondyloenchondromatosis (DSC) associated with <i>COL2A1<\/i> mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia\u2010Strudwick type (SEMD\u2010S)"],"prefix":"10.1002","volume":"167","author":[{"given":"Blair","family":"Merrick","sequence":"first","affiliation":[{"name":"North West Thames Regional Genetics Service London North West Healthcare NHS Trust Harrow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alistair","family":"Calder","sequence":"additional","affiliation":[{"name":"Department of Radiology Great Ormond Street Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Wakeling","sequence":"additional","affiliation":[{"name":"North West Thames Regional Genetics Service London North West Healthcare NHS Trust Harrow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,8,6]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450413"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199801000-00014"},{"key":"e_1_2_4_4_1","first-page":"Doc06","article-title":"Spinal and extraspinal deformities in a patient with dysspondyloenchondromatosis","volume":"11","author":"Kenis V","year":"2013","journal-title":"Ger Med Sci"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02012112"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00367770"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/99.2.377"},{"key":"e_1_2_4_8_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1159\/000333098","article-title":"Dysspondyloenchondromatosis: Another COL2A1\u2010related skeletal dysplasia?","volume":"2","author":"Nakane T","year":"2011","journal-title":"Mol Syndromol"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31331"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31332"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36331"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcg112"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31516"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33909"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37282","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37282","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:27:00Z","timestamp":1696634820000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37282"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,6]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1002\/ajmg.a.37282"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37282","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,6]]}}}