{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T17:01:25Z","timestamp":1783443685696,"version":"3.54.6"},"reference-count":38,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T00:00:00Z","timestamp":1605916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["402008\/2010\u20103"],"award-info":[{"award-number":["402008\/2010\u20103"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["590148\/2011\u20107"],"award-info":[{"award-number":["590148\/2011\u20107"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["02p05032\/2010"],"award-info":[{"award-number":["02p05032\/2010"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2015\/22145\u20106"],"award-info":[{"award-number":["2015\/22145\u20106"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000098","name":"NIH Clinical Center","doi-asserted-by":"publisher","award":["ZIA HG200407"],"award-info":[{"award-number":["ZIA HG200407"]}],"id":[{"id":"10.13039\/100000098","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Skeletal dysplasias (SD) are disturbances in growth due to defects intrinsic to the bone and\/or cartilage, usually affecting multiple bones and having a progressive character. In this article, we review the state of clinical and research SD resources available in Latin America, including three specific countries (Brazil, Argentina, and Chile), that have established multidisciplinary clinics for the care of these patients. From the epidemiological point of view, the SD prevalence of 3.2 per 10,000 births from nine South American countries included in the ECLAMC network represents the most accurate estimate not just in Latin America, but worldwide. In Brazil, there are currently five groups focused on SD. The data from one of these groups including the website <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/www.ocd.med.br\">www.ocd.med.br<\/jats:ext-link>, created to assist in the diagnosis of SD, are highlighted showing that telemedicine for this purpose represents a good strategy for the region. The experience of more than 30\u2009years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow\u2010up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20\u2009years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health\u2010care and research activities in Latin America are in their early stages, the experience in these three countries seems promising and stimulating for the region as a whole.<\/jats:p>","DOI":"10.1002\/ajmg.c.31861","type":"journal-article","created":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T13:10:55Z","timestamp":1605964255000},"page":"986-995","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Skeletal dysplasias in Latin America"],"prefix":"10.1002","volume":"184","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6617-4730","authenticated-orcid":false,"given":"Denise P.","family":"Cavalcanti","sequence":"first","affiliation":[{"name":"Skeletal Dysplasia Group, Medical Genetics Department, Medical Sciences Faculty State University of Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Fano","sequence":"additional","affiliation":[{"name":"Growth and Development Department Garrahan Hospital  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6032-4651","authenticated-orcid":false,"given":"Cecilia","family":"Mellado","sequence":"additional","affiliation":[{"name":"Study Group of Genetic Skeletal Abnormalities, Genetic Unit, Pediatrics Division, Faculty of Medicine Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Dora J.","family":"Lacarrubba\u2010Flores","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Medical Genetics Department, Medical Sciences Faculty State University of Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Silveira","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Medical Genetics Department, Medical Sciences Faculty State University of Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karina C.","family":"Silveira","sequence":"additional","affiliation":[{"name":"Skeletal Dysplasia Group, Medical Genetics Department, Medical Sciences Faculty State University of Campinas (UNICAMP)  Campinas S\u00e3o Paulo Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"del Pino","sequence":"additional","affiliation":[{"name":"Growth and Development Department Garrahan Hospital  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica","family":"Moresco","sequence":"additional","affiliation":[{"name":"Genetic Department Garrahan Hospital  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Caino","sequence":"additional","affiliation":[{"name":"Growth and Development Department Garrahan Hospital  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Ramos Mej\u00eda","sequence":"additional","affiliation":[{"name":"Growth and Development Department Garrahan Hospital  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristi\u00e1n J.","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Study Group of Genetic Skeletal Abnormalities, Department of Radiology, Faculty of Medicine Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guillermo","family":"Lay\u2010Son","sequence":"additional","affiliation":[{"name":"Study Group of Genetic Skeletal Abnormalities, Genetic Unit, Pediatrics Division, Faculty of Medicine Pontificia Universidad Cat\u00f3lica de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-1046","authenticated-orcid":false,"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40001-016-0228-7"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2018-0046"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35246"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000080776"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.01.009"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.4338\/ACI-2016-06-R-0089"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1691788"},{"key":"e_1_2_11_9_1","first-page":"80","article-title":"Referencias de \u00edndice de masa corporal para ni\u00f1os con acondroplasia","author":"Pino M.","year":"2013","journal-title":"Medicina Infantil"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35721"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2017-0471"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61120"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1302-8"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38633"},{"key":"e_1_2_11_15_1","unstructured":"delPino M. Viterbo G. &Fano V.(2017).Gu\u00eda de manejo de ni\u00f1os con raquitismo hipofosfatemico familiar. Retrieved fromhttps:\/\/www.garrahan.gov.ar\/images\/intranet\/guias_atencion\/GAP_2017_-_MANEJO_RAQUITISMO.pdf"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.12.008"},{"key":"e_1_2_11_17_1","unstructured":"Fano V. delPino M. &Obregon M. G. (2013).Gu\u00eda de manejo de la Acondroplasia Hospital de Pediatr\u00eda Garrahan. Retrieved fromhttps:\/\/www.garrahan.gov.ar\/PDFS\/gap_historico\/GAP-2013-Acondroplasia.pdf"},{"key":"e_1_2_11_18_1","unstructured":"Fano V. &Rodriguez Celin M.(2016).Gu\u00eda de manejo Osteog\u00e9nesis Imperfecta. Retrieved fromhttps:\/\/www.garrahan.gov.ar\/PDFS\/gap_historico\/GAP2016-Manejo-Osteogenesis-Imperfecta.pdf"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2009.12.022"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1159\/000486697"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.015"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40425"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.4067\/s0034-98872003001200007"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61460"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-002-0855-8"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.328"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.1159\/000439109"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.5546\/aap.2015.e357"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.5546\/aap.2018.eng.e560"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.5546\/aap.2016.eng.248"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12275"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.11144\/javeriana.umed52-2.defr"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780070610"},{"issue":"2","key":"e_1_2_11_34_1","first-page":"67","article-title":"Prevalencia de displasias esquel\u00e9ticas en reci\u00e9n nacidos en el Hospital Ru\u00edz y P\u00e1ez de Ciudad Bol\u00edvar. Venezuela. Per\u00edodo 1978\u20101990 [Prevalence of bone dysplasias in newborns at the Ru\u00edz y P\u00e1ez Hospital in Bol\u00edvar City. Venezuela. 1978\u20101990]","volume":"32","author":"S\u00e1nchez O.","year":"1991","journal-title":"Investigacion Clinica"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37858"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36954"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38157"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61735"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.7705\/biomedica.v30i1.154"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31861","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31861","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31861","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T14:56:37Z","timestamp":1731423397000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31861"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,21]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/ajmg.c.31861"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31861","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,21]]},"assertion":[{"value":"2020-09-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-10","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}