Skeletal Dysplasia Group, Medical Genetics Department, Medical Sciences Faculty, State University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
Growth and Development Department, Garrahan Hospital, Buenos Aires, Argentina.
Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):986-995. doi: 10.1002/ajmg.c.31861. Epub 2020 Nov 21.
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.
骨骼发育不良(SD)是由于骨骼和/或软骨内在缺陷导致的生长障碍,通常影响多个骨骼,并具有进行性特征。本文综述了拉丁美洲临床和研究 SD 资源的现状,包括三个具有多学科诊所的特定国家(巴西、阿根廷和智利),这些诊所专门为这些患者提供服务。从流行病学的角度来看,ECLAMC 网络中包含的九个南美国家的每 10000 例出生中就有 3.2 例 SD,这是迄今为止拉丁美洲乃至全球最准确的估计。在巴西,目前有五个专注于 SD 的团体。其中一个团体的数据,包括创建来协助 SD 诊断的网站 www.ocd.med.br,被重点强调,表明为此目的的远程医疗是该地区的一项良好策略。本文介绍了阿根廷某医院超过 30 年的 SD 多学科诊所的经验,证明了其在最常见的 SD 随访方面具有坚实的经验,尤其是 FGFR3 组和 OI 所属的 SD。在智利,一个拥有 20 年经验的团体与遗传学家和儿科医生合作,专注于诊断目的和临床管理。总的来说,尽管拉丁美洲的 SD 医疗保健和研究活动仍处于早期阶段,但这三个国家的经验似乎对整个地区来说具有前景和激励性。