{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T17:26:34Z","timestamp":1788456394569,"version":"build-2803163510"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T00:00:00Z","timestamp":1574208000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T00:00:00Z","timestamp":1574208000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Heterozygous mutations of the\n                    <jats:italic>ACAN<\/jats:italic>\n                    gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new\n                    <jats:italic>ACAN<\/jats:italic>\n                    missense variant c.6970\u2009T\u2009&gt;\u2009C, p.Trp2324Arg. The comprehensive clinical evaluation of the patient and his family, focused on the associated clinical features (facial dysmorphisms, short stature, brachydactily), led us to suspect a hereditary condition. Our findings suggest that Aggrecanopathies should be considered in children with familial short stature, poor growth spurt and joint involvement.\n                  <\/jats:p>","DOI":"10.1186\/s13052-019-0719-6","type":"journal-article","created":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T08:02:50Z","timestamp":1574236970000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A child with a novel ACAN missense variant mimicking a septic arthritis"],"prefix":"10.1186","volume":"45","author":[{"given":"Angelo","family":"Florio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9626-5470","authenticated-orcid":false,"given":"Riccardo","family":"Papa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Caorsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Consolaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Gastaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Gattorno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Picco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,20]]},"reference":[{"key":"719_CR1","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1016\/j.ydbio.2014.10.005","volume":"396","author":"KL Lauing","year":"2014","unstructured":"Lauing KL, Cortes M, Domowicz MS, et al. Aggrecan is required for growth plate cytoarchitecture and differentiation. Dev Biol. 2014;396:224\u201336.","journal-title":"Dev Biol"},{"key":"719_CR2","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.ajhg.2008.12.001","volume":"84","author":"SW Tompson","year":"2009","unstructured":"Tompson SW, Merriman B, Funari VA, et al. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the Ctypelectin domain of aggrecan. Am J Hum Genet. 2009;84:72\u20139.","journal-title":"Am J Hum Genet"},{"key":"719_CR3","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1086\/444401","volume":"77","author":"L Gleghorn","year":"2005","unstructured":"Gleghorn L, Ramesar R, Beighton P, Wallis G. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. Am J Hum Genet. 2005;77:484\u201390.","journal-title":"Am J Hum Genet"},{"key":"719_CR4","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.ajhg.2009.12.018","volume":"86","author":"EL Stattin","year":"2010","unstructured":"Stattin EL, Wiklund F, Lindblom K, et al. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet. 2010;86:126\u201337.","journal-title":"Am J Hum Genet"},{"key":"719_CR5","doi-asserted-by":"publisher","first-page":"E1510","DOI":"10.1210\/jc.2014-1332","volume":"99","author":"O Nilsson","year":"2014","unstructured":"Nilsson O, Guo MH, Dunbar N, et al. Short stature, accelerated bonematuration, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014;99:E1510\u20138.","journal-title":"J Clin Endocrinol Metab"},{"key":"719_CR6","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1186\/s13023-016-0459-2","volume":"11","author":"BG Gibson","year":"2016","unstructured":"Gibson BG, Briggs MD. The Aggrecanopathies: an evolving phenotypic spectrum of human genetic skeletal diseases. Orphanet J Rare Dis. 2016;11:86.","journal-title":"Orphanet J Rare Dis"}],"container-title":["Italian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-019-0719-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13052-019-0719-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-019-0719-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,11,18]],"date-time":"2020-11-18T19:15:37Z","timestamp":1605726937000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijponline.biomedcentral.com\/articles\/10.1186\/s13052-019-0719-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,20]]},"references-count":6,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["719"],"URL":"https:\/\/doi.org\/10.1186\/s13052-019-0719-6","relation":{},"ISSN":["1824-7288"],"issn-type":[{"value":"1824-7288","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,20]]},"assertion":[{"value":"3 June 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 September 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 November 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare that they have obtained the consent for publication from the described patient and family.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"148"}}