Skeletal dysplasias in Latin America
© 2020 Wiley Periodicals LLC..
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 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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2020 |
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| Erschienen: |
2020 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:184 |
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| Enthalten in: |
American journal of medical genetics. Part C, Seminars in medical genetics - 184(2020), 4 vom: 15. Dez., Seite 986-995 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Cavalcanti, Denise P [VerfasserIn] |
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| Links: |
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| Themen: |
Achondroplasia |
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| Anmerkungen: |
Date Completed 17.09.2021 Date Revised 10.01.2023 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/ajmg.c.31861 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM317867679 |
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| 520 | |a 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 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 | ||
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| 650 | 4 | |a Review | |
| 650 | 4 | |a Latin America | |
| 650 | 4 | |a achondroplasia | |
| 650 | 4 | |a dysostosis | |
| 650 | 4 | |a osteogenesis imperfecta | |
| 650 | 4 | |a skeletal dysplasias | |
| 650 | 4 | |a telemedicine | |
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| 700 | 1 | |a Mellado, Cecilia |e verfasserin |4 aut | |
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| 700 | 1 | |a Silveira, Cynthia |e verfasserin |4 aut | |
| 700 | 1 | |a Silveira, Karina C |e verfasserin |4 aut | |
| 700 | 1 | |a Del Pino, Mariana |e verfasserin |4 aut | |
| 700 | 1 | |a Moresco, Angelica |e verfasserin |4 aut | |
| 700 | 1 | |a Caino, Silvia |e verfasserin |4 aut | |
| 700 | 1 | |a Ramos Mejía, Rosario |e verfasserin |4 aut | |
| 700 | 1 | |a García, Cristián J |e verfasserin |4 aut | |
| 700 | 1 | |a Lay-Son, Guillermo |e verfasserin |4 aut | |
| 700 | 1 | |a Ferreira, Carlos R |e verfasserin |4 aut | |
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