Cornelia de Lange syndrome: What every otolaryngologist should know

Ear Nose Throat J. 2017 Aug;96(8):E6-E9. doi: 10.1177/014556131709600802.


Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We present the case of a 20-month-old boy with CdLS actively managed by an aerodigestive team consisting of pediatric otolaryngology, pediatric pulmonology, pediatric gastroenterology, with support staff from audiology, speech, and nutrition. His presentation included mixed hearing loss, dysphagia, microaspiration, gastroesophageal reflux, and failure to thrive. We submit this challenging case of CdLS with a review of the literature to focus specific attention on the otolaryngic manifestations of the syndrome and to discuss the benefits of a multidisciplinary approach to these unique patients.

Publication types

  • Case Reports
  • Review

MeSH terms

  • De Lange Syndrome / complications
  • De Lange Syndrome / therapy*
  • Deglutition Disorders / congenital
  • Failure to Thrive / etiology
  • Gastroesophageal Reflux / congenital
  • Hearing Loss, Mixed Conductive-Sensorineural / congenital
  • Humans
  • Infant
  • Male
  • Otolaryngology*
  • Patient Care Team*
  • Phenotype
  • Photography
  • Respiratory Aspiration / congenital