Síndrome de Charge—Dois casos clínicos com diferentes manifestações Otorrinolaringológicas

• Pedro Carneiro de Sousa ^[1] ; Ditza de Vilhena ^[1] ; Delfim Duarte ^[1] ; Nuno Trigueiros-Cunha ^[1]
  1. [1] Hospital Pedro Hispano

     Hospital Pedro Hispano

     Matosinhos, Portugal

     
• Localización: Acta Otorrinolaringológica Gallega, ISSN-e 2340-3438, Nº. 10, 2017, págs. 104-110
• Idioma: portugués
• Títulos paralelos:
  • Charge Syndrome—Two clinical cases with different Otorhinolaryngological features
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• Resumen

  • The authors present two cases of CHARGE syndrome. The first case, a female with ten months old, had noisy breathing related to left coanal atresia. She presented also right facial paralysis and right vocal fold paresis. Imaging confirmed left osseous coanal atresia, bilateral enlarged vestibular aqueducts, absent semicircular canals and cochlear hypoplasia. She failed otoacustic emitions test, but bilateral auditory brainstem response was normal. The second case, a female, twenty-two years old, had complaints of bilateral hearing loss and right nasal airway impairment. Nasal endoscopy showed partial right membraneous coanal atresia. Audiometry revealed right mild sensorineural hearing loss and left cofosis