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

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Leiva-Gea, Antonio
  • Martos Lirio, Maria F
  • Barreda Bonis, Ana Coral
  • Marin Del Barrio, Silvia
  • Heath, Karen E
  • Guillen-Navarro, Encarna
  • Santos Simarro, Fernando
  • Riano Galan, Isolina
  • Yeste Fernandez, Diego
  • Leiva-Gea, Isabel

Abstract

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.

Copyright © 2022 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

Datos de la publicación

ISSN/ISSNe:
2341-2879, 2341-2879

Anales De Pediatria  

Tipo:
Article
Páginas:
4231-42311
PubMed:
36347803

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Keywords

  • Achondroplasia; Acondroplasia; Bone dysplasia; Displasia ósea

Proyectos y Estudios Clínicos

RED DE SALUD MATERNO INFANTIL Y DEL DESARROLLO

Investigador Principal: MÁXIMO VENTO TORRES

RD12/0026/0012 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2013

NANNYTEX. SISTEMA DE MONITORIZACIÓN NO INTRUSIVA PARA BEBÉS.

Investigador Principal: Mª ISABEL IZQUIERDO MACIÁN

NANNYTEX

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