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


ABSTRACT:

Background

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.

Methods

We undertook two exploratory surveys to investigate awareness of the recommendations for management of children with achondroplasia among healthcare professionals (HCPs) and parents. We also assessed how well clinical practice aligns with the recommendations.

Results

Awareness of guidance was high among HCP respondents but low among parent respondents. Clinical practice largely aligned with international guidance; however, there was not complete alignment with all rec

SUBMITTER: Guillen-Navarro E 

PROVIDER: S-EPMC11895228 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature