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Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Achondroplasia is one of the most prevalent forms of skeletal dysplasia. Lifelong follow-up by an experienced multidisciplinary team is required, particularly during the first 2 years. In 2021, international consensus recommendations and guiding principles were published by two groups.

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Main Authors: Guillen-Navarro, Encarna (Author) , AlSayed, Moeenaldeen (Author) , Alves, Inês (Author) , Ben-Omran, Tawfeg (Author) , Boero, Silvio (Author) , Cormier-Daire, Valérie (Author) , Fauroux, Brigitte (Author) , Fredwall, Svein (Author) , Irving, Melita (Author) , Kunkel, Philip Oskar Sean (Author) , Lampe, Christian Gerhard (Author) , Lausch, Ekkehart (Author) , Maghnie, Mohamad (Author) , Mohnike, Klaus (Author) , Mortier, Geert (Author) , Pejin, Zagorka (Author) , Sessa, Marco (Author) , Sousa, Sérgio B. (Author)
Format: Article (Journal)
Language:English
Published: 11 March 2025
In: Orphanet journal of rare diseases
Year: 2025, Volume: 20, Pages: 1-10
ISSN:1750-1172
DOI:10.1186/s13023-025-03621-7
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s13023-025-03621-7
Verlag, kostenfrei, Volltext: https://ojrd.biomedcentral.com/articles/10.1186/s13023-025-03621-7
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Author Notes:Encarna Guillen-Navarro, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valérie Cormier-Daire, Brigitte Fauroux, Svein Fredwall, Melita Irving, Philip Kunkel, Christian Lampe, Ekkehart Lausch, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Zagorka Pejin, Marco Sessa and Sérgio B. Sousa

MARC

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