{
  "abstract": "Objective: To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management.\n\nData Sources: PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.\n\nReview Methods: This systematic review and proportional meta‐analysis adhered to PRISMA guidelines. Screening and extraction were performed (January‐May 2025) by 2 independent reviewers using a standardized template. Pooled prevalence estimates were generated using random‐effects models with 95% confidence intervals (CIs);heterogeneity was assessed with I 2. Study quality was assessed with the Newcastle‐Ottawa Scale.\n\nResults: Seventy studies (1564 patients; predominantly case series) were included. Airway findings included choanal atresia (reported across 58 studies; unilateral 15.4%, 95% CI 11.6‐19.2; bilateral 31.5%, 95% CI 23.3‐39.7), laryngomalacia (8 studies; 27.7%, 95% CI 16.3‐28.1), and tracheostomy (13 studies; 23.6%, 95% CI 16.9‐27.5). Olfactory abnormalities were reported in 15 studies (28.8%, 95% CI 14.7‐42.9). Craniofacial findings included facial palsy (39 studies; 35.2%, 95% CI 29.8‐40.7) and cleft lip/palate (43 studies; 25.6%, 95% CI 23.1‐28.2). Otologic abnormalities were frequent, including chronic otitis media with effusion (11 studies; 54.5%, 95% CI 48.4‐60.7), semicircular canal hypoplasia/aplasia (29 studies; 73.6%, 95% CI 59.9‐85.2), cochlear hypoplasia (26 studies; 49.8%, 95% CI 37.4‐62.2), cochlear nerve hypoplasia (13 studies; 49.1%, 95% CI 34.4‐63.8), and sensorineural hearing loss (27 studies; 56.9%, 95% CI 52.7‐61.1).\n\nConclusion: CS is associated with a substantial ENT disease burden extending beyond choanal atresia, including frequent airway compromise, olfactory dysfunction, craniofacial anomalies, and vestibulocochlear malformations. Early, comprehensive multidisciplinary assessment with otolaryngology involvement is warranted.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Anesthesia Université de Montréal Montreal Quebec Canada",
    "Department of Family Medicine McGill University Montreal Quebec Canada",
    "Faculty of Medical and Health Sciences School of Medicine, University of Auckland Auckland New Zealand",
    "Medical Library CHU Ste Justine Montreal Quebec Canada",
    "Department of Otolaryngology–Head and Neck Surgery Harvard Medical School Boston USA",
    "Department of Otolaryngology and Communication Enhancement Boston Children's Hospital Boston USA",
    "Department of Surgery Université de Montréal Montreal Quebec Canada",
    "Department of Pediatric Otolaryngology–Head and Neck Surgery CHU Ste‐Justine Montreal Quebec Canada",
    "Infectious Diseases and Acute Care Axis, CHU Ste‐Justine Research Institute CHU Sainte Justine Montreal Quebec Canada"
  ],
  "article_type": "review article",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Camille Caron"
    },
    {
      "affs": [
        1
      ],
      "name": "Massil Badji"
    },
    {
      "affs": [
        2
      ],
      "name": "Camille Prigent"
    },
    {
      "affs": [
        3
      ],
      "name": "Alix Pincivy"
    },
    {
      "affs": [
        4,
        5
      ],
      "name": "Erika Mercier"
    },
    {
      "affs": [
        6,
        7,
        8
      ],
      "name": "Mathieu Bergeron",
      "orcid": "0000-0001-8300-3220"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/dthn6cwkbpp5q.bib",
  "cited_by": 0,
  "doi": "10.1002/ohn.70346",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13737458/",
  "id": "dthn6cwkbpp5q",
  "issns": [
    "0194-5998",
    "1097-6817"
  ],
  "landing_url": "https://doi.org/10.1002/ohn.70346",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Reviews"
    ],
    [
      "heading",
      "Systematic Review With or Without Meta‐analysis"
    ],
    [
      "openalex",
      "2716|Congenital Ear and Nasal Anomalies"
    ]
  ],
  "openalex": "W7171503758",
  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ohn.70346",
  "pmcid": "PMC13737458",
  "pmid": "42516038",
  "published": "2026-07-28",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/dthn6cwkbpp5q.ris",
  "sources": [
    {
      "first_seen": "2026-11-09T12:22:38Z",
      "native_id": "PMC13737458",
      "source": "pmc",
      "url": "https://doi.org/10.1002/ohn.70346"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2716|Congenital Ear and Nasal Anomalies",
      "subfield": "human-genetics"
    }
  ],
  "title": "CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis",
  "title_text": "CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis",
  "type": "peer-reviewed",
  "updated_at": "2026-11-09T12:22:38Z",
  "url": "https://research.draconitic.com/paper/dthn6cwkbpp5q",
  "venue": "Otolaryngology--Head and Neck Surgery",
  "versions": []
}