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Minimally Invasive Murine Laryngoscopy for Close-Up Imaging of Laryngeal Motion During Breathing and Swallowing
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Published on: December 1, 2023

New airway and swallow manifestations of Simpson-Golabi-Behmel syndrome

Emma Glamuzina1, Salim Aftimos, Melissa Keesing

  • 1Northern Regional Genetic Services, Starship Children's Hospital, Building 30, Private Bag 92024, Grafton, Auckland 1010, New Zealand.

International Journal of Pediatric Otorhinolaryngology
|July 28, 2009
PubMed

Insights

Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder. This report details a case with previously undescribed airway and swallowing issues, emphasizing comprehensive assessment in affected children.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked genetic disorder characterized by pre- and postnatal overgrowth.
  • It is associated with distinctive facial features, visceral abnormalities, and developmental delays.

Observation:

  • A pediatric case presenting with typical facial and visceral manifestations of SGBS was observed.
  • This patient exhibited complex airway anomalies and significant difficulties with swallowing.

Findings:

  • Bronchiectasis was identified as a complication associated with the observed airway and swallow difficulties.
  • These specific airway and swallowing complications have not been previously documented in the literature for SGBS.

Implications:

  • The findings underscore the necessity of thorough airway and swallow evaluations in children diagnosed with SGBS.
  • Early identification and management of these complications can potentially improve patient outcomes and quality of life.

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