Otorhinolaryngological manifestations in patients with achondroplasia described in the worldwide literature: A scoping review.

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Authors: Cynthia Castilho Moreno, Hugo Gedeon Barros dos Santos, Adriana Maria Silva Lima, Marcial Francis Galera
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Abstract

Objective: To map the available scientific literature evidence on the most prevalent otorhinolaryngological manifestations in patients with achondroplasia. Introduction: The atypical craniofacial anatomy on these patients, play a role in the high prevalence of otorhinolaryngological manifestations in these population. Despite it´s clinical relevance the management still lacks systematization. In this context, a scoping review allows mapping these manifestations and synthesizing the available evidence, contributing to the organization of care. Methods: A scoping review will be conducted accordance with the Joanna Briggs Institute (JBI) guidelines and the PRISMA-ScR extension. The bibliographic search was initiated prior to the registration of this protocol. It will include studies involving patients with a confirmed diagnosis of achondroplasia and otorhinolaryngological manifestations, published in the last 15 years, in Portuguese, English, or Spanish. The searches will be carried out in the PubMed, LILACS, BVS (Virtual Health Library), and Cochrane databases. The studies´s selection will follow the PCC framework (population, concept, and context), in accordance with predefined exclusion criteria, and will be performed independently by peer reviewers. Critical appraisal of methodological quality will be performed using JBI Appraisal Tools. Data extraction will be done using a standardized form suggested by JBI Manual for Evidence Synthesis, and evidence analysis will be descriptive with quantitative assessment, thematic grouping, and narrative synthesis. Expected results: The results are expected to provide an overview of the main otorhinolaryngological manifestations in achondroplasia, identify lack of evidence in scientific literature contributing to clinical practice and guiding future research. Keywords: Achondroplasia; Sleep apnea; Otorhinolaryngological manifestations; Otitis; Hearing loss; Scoping review.

Fields of Study & Subjects

Connective tissue disorders research Craniofacial Disorders and Treatments Congenital Ear and Nasal Anomalies

Publication details

Publication date
6 February 2026
Document type
Preprint