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DOI 10.1016/j.anpede.2022.10.004

Медицинская библиотека · Anales de pediatria · 2022

Achondroplasia: Update on diagnosis, follow-up and treatment.

Leiva-Gea Antonio, Martos Lirio María F, Barreda Bonis Ana Coral, Marín Del Barrio Silvia, Heath Karen E, Marín Reina Purificacion, Guillén-Navarro Encarna, Santos Simarro Fernando, Riaño Galán Isolina, Yeste Fernández Diego, Leiva-Gea Isabel

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Аннотация

Achondroplasia requieres multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. This review is justified by the multiple publications generated in recent years that have carried out a change in its management. Different guidelines and recommendations have been developed, among which the one made by the American Academy of Pediatrics in 2005 recently updated (2020), the Japanese guide (2020), the first European Consensus (2021) and the International Consensus on the diagnosis, approach multidisciplinary approach and management of individuals with achondroplasia throughout life (2021). However, and despite these recommendations, there is currently a great worldwide variability in the management of people with achondroplasia, with medical, functional and psychosocial consequences in patients and their families. Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system.

Для цитирования: Leiva-Gea Antonio, Martos Lirio María F, Barreda Bonis Ana Coral, Marín Del Barrio Silvia, Heath Karen E, Marín Reina Purificacion, Guillén-Navarro Encarna, Santos Simarro Fernando, Riaño Galán Isolina, Yeste Fernández Diego, Leiva-Gea Isabel. Achondroplasia: Update on diagnosis, follow-up and treatment.. Anales de pediatria. 2022. DOI: 10.1016/j.anpede.2022.10.004.

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