Achondroplasia: 10 years of experience in the clinical approach, management and multidisciplinary care at the National Institute of Rehabilitation «Luis Guillermo Ibarra Ibarra»
DOI:
https://doi.org/10.35366/116870Keywords:
achondroplasia, skeletal dysplasia, FGFR3, clinical approachAbstract
Introduction: achondroplasia is the most common skeletal dysplasia with an incidence of 1 in 20,000- 30,000 with 80% of cases being sporadic. It is an autosomal dominant disease, with mutations in the fibroblast growth factor receptor 3 (FGFR3). There are multiple clinical features, the common clinical manifestations include disproportionate short stature with rizhomelic shortening. Material and methods: an observational, retrospective, cross-sectional study was carried out on 42 patients with diagnosis of achondroplasia at the INRLGII between the years 2013 and 2023. We analyzed sex, current age, age at diagnosis, years of follow-up. Results: clinical files of 42 patients were retrieved, 52.4% were men and 47.6% were women. Of all patients, only 9.5% had a prenatal diagnosis. Conclusions: it is essential to carry out a multidisciplinary and proactive approach for the clinical and psychosocial care of people with achondroplasia. And all adults and patients should have access to a clinical geneticist to discuss inheritance patterns.
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