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Ear-nose-throat abnormalities in the CHARGE association
Archives of Otolaryngology--Head & Neck Surgery
|January 1, 1993
Summary
CHARGE syndrome patients frequently exhibit significant ear and airway issues. Early assessment of otolaryngological problems, including hearing loss and airway abnormalities, is crucial for managing this condition.
Area of Science:
- Otolaryngology
- Medical Genetics
Background:
- CHARGE syndrome is a complex genetic disorder with multisystem involvement.
- Otolaryngological manifestations are common and can significantly impact patient health.
Purpose of the Study:
- To comprehensively evaluate otolaryngological abnormalities in patients with CHARGE syndrome.
- To identify common ear and airway issues and their clinical implications.
Main Methods:
- Retrospective analysis of 50 patients diagnosed with CHARGE syndrome.
- Review of clinical data, audiological assessments, and temporal bone CT scans.
Main Results:
- All patients had ear abnormalities, with 96% showing malformed pinnae and 54% experiencing facial nerve palsies.
- 8% had normal hearing; severe conductive or mixed hearing loss was most common. Temporal bone CT revealed abnormalities in 84%, notably hypoplastic incus and absent semicircular canals.
- 86% had upper airway abnormalities, including choanal atresia (56%) and retrognathia (42%), leading to intubation difficulties. Laryngotracheal issues affected 38%, with 14% requiring tracheostomies.
Conclusions:
- CHARGE syndrome patients present with a high prevalence of severe otolaryngological abnormalities, particularly affecting the ears and upper airway.
- Early and thorough assessment of these abnormalities is vital for effective management and prevention of life-threatening complications like aspiration.