Skeletal dysplasias in Latin America

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dc.catalogadoryvc
dc.contributor.authorCavalcanti, Denise P.
dc.contributor.authorFano, Virginia
dc.contributor.authorMellado Sagredo, Cecilia Ximena Del Carmen
dc.contributor.authorLacarrubba‐Flores, María Dora
dc.contributor.authorSilveira, Cynthia
dc.contributor.authorSilveira, Karina C.
dc.contributor.authorPino, Mariana del
dc.contributor.authorMoresco, Angélica
dc.contributor.authorCaino, Silvia
dc.contributor.authorRamos Mejía, Rosario
dc.contributor.authorGarcía B., Cristián
dc.contributor.authorLay-Son Rodríguez, Guillermo Roberto
dc.contributor.authorFerreira, Carlos F.
dc.date.accessioned2024-01-19T14:06:43Z
dc.date.available2024-01-19T14:06:43Z
dc.date.issued2020
dc.description.abstractSkeletal 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 www.ocd.med.br, 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 years of the SD multidisciplinary clinic in an Argentinian Hospital is presented, evidencing a solid experience mainly in the follow-up of the most frequent SD, especially those belonging the FGFR3 group and OI. In Chile, a group with 20 years of experience presents its work with geneticists and pediatricians, focusing on diagnostic purposes and clinical management. Altogether, although SD health-care 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.
dc.fuente.origenORCID
dc.identifier.doi10.1002/ajmg.c.31861
dc.identifier.eissn1552-4876
dc.identifier.issn1552-4868
dc.identifier.urihttps://doi.org/10.1002/ajmg.c.31861
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80621
dc.information.autorucEscuela de Medicina; Mellado Sagredo, Cecilia Ximena Del Carmen; 0000-0002-6032-4651; 1002671
dc.information.autorucEscuela de Medicina; Lay-Son Rodríguez, Guillermo Roberto; 0000-0001-9933-1253; 1081531
dc.issue.numero4
dc.language.isoen
dc.pagina.final995
dc.pagina.inicio986
dc.revistaAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics
dc.rightsacceso restringido
dc.subjectAchondroplasia
dc.subjectDysostosis
dc.subjectLatin America
dc.subjectOsteogenesis imperfecta
dc.subjectSkeletal dysplasias
dc.subjectTelemedicine
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleSkeletal dysplasias in Latin America
dc.typeartículo
dc.volumen184
sipa.codpersvinculados1002671
sipa.codpersvinculados1081531
sipa.trazabilidadORCID;2024-01-08
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