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Atypical Bilateral and Unilateral Vocal Cord Paralysis in Two Neonates With Williams Syndrome

Priya Arya1, Miller C Hamrick2, Benjamin Mackowiak3

  • 1Mercer University School of Medicine, 1250 E 66th St, Savannah, 31404, Georgia, USA, mercer.edu.

Case Reports in Pediatrics
|May 29, 2026
PubMed

Insights

Williams syndrome, a genetic disorder from chromosome 7q11.23 deletions, can cause vocal cord paralysis in infants. This requires complex multidisciplinary care, including feeding tubes and respiratory support.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • Williams syndrome is a rare genetic disorder affecting approximately 1 in 7500 individuals.
  • It results from deletions in chromosome 7q11.23, leading to a distinctive phenotype with varied symptoms.
  • Vocal fold dysfunction is a recognized, though less common, manifestation.

Purpose of the Study:

  • To present two case reports of early-term infants diagnosed with Williams syndrome.
  • To detail the clinical course and management of vocal fold paralysis in these infants.
  • To highlight the multidisciplinary care required for complex cases.

Main Methods:

  • Case report methodology was employed.
  • Clinical courses and treatment regimens for two infants were documented.
  • The genetic basis involving elastin gene deletion was considered.

Main Results:

  • Both infants presented with Williams syndrome and vocal fold paralysis (bilateral in one, unilateral in the other).
  • Management involved multidisciplinary care, including home tracheostomy and gastrostomy tubes for feeding.
  • Feeding therapy was essential for nutritional support.

Conclusions:

  • Vocal fold paralysis, potentially linked to elastin gene deletion, complicates Williams syndrome care in infants.
  • Early diagnosis and intensive, multidisciplinary support are crucial for managing these complex cases.
  • These cases underscore the variability of Williams syndrome manifestations and associated care needs.

Keywords:
Williams syndromebilateral vocal fold paralysisoropharyngeal dysphagiaunilateral vocal fold paralysis

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