Description
Experts from across Latin America developed recommendations for the management of achondroplasia covering the range of outcomes across different body systems.
Experts from Argentina, Brazil, Chile, and Colombia participated in an Advisory Board meeting in 2019, where a structured discussion on how patients are followed in different centres and identified gaps and opportunities for regional improvement in management.
The group established practical recommendations for genetic counselling, prenatal diagnosis, and planning of delivery in patients with achondroplasia. Follow-up guidelines are aimed at neurologic, orthopaedic, otorhinolaryngologic, nutritional and anthropometric aspects, and related to development milestones. Additionally, it is acknowledged that physical therapy, physical activity, phonoaudiology and other care related to quality of life plays a role for both patients and their families.
References:
Llerena Jr J, Kim CA, Fano V, Rosselli P, Collett‑Solberg PF, Vasconcelos de Medeiros PF, del Pino M, Bertola D, Lourenço CM, Pontes Cavalcanti D, Félix TM, Rosa‑Bellas A, Rossi NT, Cortes F, Abreu F, Cavalcanti N, Hervias Ruz MC, Baratela W BMC Pediatrics 2022;22:492 DOI: 10.1186/s12887-022-03505-w