{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T11:29:50Z","timestamp":1788866990549,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T00:00:00Z","timestamp":1699401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The autosomal dominant spondylometaphyseal dysplasia Sutcliff type or corner fracture type <jats:italic>FN1<\/jats:italic>\u2010related is characterized by a combination of metaphyseal irregularities simulating fractures (\u201ccorner fractures\u201d), developmental coxa vara, and vertebral changes. It is linked to heterozygous mutations in <jats:italic>FN1<\/jats:italic> and <jats:italic>COL2A1<\/jats:italic>. Vertebral changes as delayed vertebral ossification, ovoid vertebral bodies, anterior vertebral wedging, and platyspondyly have been observed in this condition, while odontoid abnormalities have not been reported. We report an odontoid anomaly in a girl with SMD\u2010CF <jats:italic>FN1<\/jats:italic>\u2010related showing the heterozygous variant c.505T&gt;A; p.(Cys169Ser), presenting at 11.9\u2009years of age with acute quadriparesis. Images showed spinal cord compression and injury associated with os odontoideum and C1\u2013C2 instability. She required decompression and instrumented occipitocervical stabilization, suffering from residual paraparesis. This paper describes the first case of SMD\u2010CF <jats:italic>FN1<\/jats:italic>\u2010related accompanied by odontoid anomalies.<\/jats:p>","DOI":"10.1002\/ajmg.a.63469","type":"journal-article","created":{"date-parts":[[2023,11,9]],"date-time":"2023-11-09T04:08:05Z","timestamp":1699502885000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type <scp><i>FN1<\/i><\/scp>\u2010related"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1717-2805","authenticated-orcid":false,"given":"Rosario","family":"Ramos\u2010Mej\u00eda","sequence":"first","affiliation":[{"name":"Growth and Development Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5816-7044","authenticated-orcid":false,"given":"Karen E.","family":"Heath","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UAM  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE\u2010ERN BOND), Hospital Universitario la Paz  Madrid Spain"},{"name":"European Research Network on Rare BONe Disorders (ERN\u2010BOND)  Madrid Spain"},{"name":"CIBERER, ISCIII  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2409-4422","authenticated-orcid":false,"given":"Silvia","family":"Modamio\u2010H\u00f8ybj\u00f8r","sequence":"additional","affiliation":[{"name":"Institute of Medical &amp; Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario la Paz, UAM  Madrid Spain"},{"name":"Skeletal Dysplasia Multidisciplinary Unit (UMDE\u2010ERN BOND), Hospital Universitario la Paz  Madrid Spain"},{"name":"European Research Network on Rare BONe Disorders (ERN\u2010BOND)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6411-1955","authenticated-orcid":false,"given":"Victoria","family":"Huckstadt","sequence":"additional","affiliation":[{"name":"Genetics Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9392-4055","authenticated-orcid":false,"given":"Juli\u00e1n","family":"Calcagni","sequence":"additional","affiliation":[{"name":"Spinal Pathology Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8388-298X","authenticated-orcid":false,"given":"Rodrigo","family":"Remondino","sequence":"additional","affiliation":[{"name":"Spinal Pathology Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3311-2220","authenticated-orcid":false,"given":"Virginia","family":"Fano","sequence":"additional","affiliation":[{"name":"Growth and Development Department Hospital Garrahan  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13424"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2018.12.020"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050005"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/113.2.409"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30704"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.175.3.2343127"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.09.019"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38059"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-016-2121-3"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30567"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)60932-6"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31516"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63469","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T09:55:37Z","timestamp":1707818137000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63469"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,8]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/ajmg.a.63469"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63469","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,8]]},"assertion":[{"value":"2023-08-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63469"}}