Revisiting Down syndrome from the ENT perspective: review of literature and recommendations


Down syndrome is the most common chromosomal abnormality among live born infants reaching up to 1 in 700 births and is characterized by a variety of dysmorphic features and medical conditions. The potential to reach their full developmental capacities can be hindered by ear, nose, and throat problems. Hence, knowledge of the various anatomic peculiarities that predispose them to various medical conditions is fundamental. The medical states resulting from these variations and suggested treatment options are reviewed. Such conditions include refractory otitis, eustachian tube dysfunction, laryngomalacia, tracheal stenosis, obstructive sleep apnea, hearing loss, and voice and articulatory impairments. This review revisits besides the otolaryngeal pathologies, special medical considerations in Down’s syndrome patients that might affect surgical outcomes used in the management of the above pathologies.

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Down syndrome


Obstructive sleep apnea


Eustachian tube


Bone-anchored hearing aid


Semicircular canals


Acoustic brain response


Otoacoustic emissions


Continuous positive airway pressure


Functional endoscopic sinus surgery


Tonsillectomy and adenoidectomy


Body mass index


Gastroesophageal reflux disease


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The authors declare no conflict of interest.

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Correspondence to Umayya Musharrafieh.

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Ramia, M., Musharrafieh, U., Khaddage, W. et al. Revisiting Down syndrome from the ENT perspective: review of literature and recommendations. Eur Arch Otorhinolaryngol 271, 863–869 (2014).

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  • Down syndrome
  • Ear
  • Nose
  • Throat
  • Pharynx
  • Speech
  • Otolaryngology