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Laryngotracheal anomalies in children with syndromic craniosynostosis undergoing tracheostomy

Adebayo Alli1, Sanjeev Gupta, Marianne Dawn Elloy

  • 1Paediatric ENT Department, Great Ormond Street Hospital for Children, London, UK. bayoalli@doctors.org.uk

The Journal of Craniofacial Surgery
|July 16, 2013
PubMed

Insights

Children with syndromic craniosynostosis often have airway issues requiring tracheostomy. This study identified common airway anomalies, including a novel "figure-of-eight" trachea, emphasizing careful airway evaluation in these patients.

Area of Science:

  • Pediatric Surgery
  • Genetics
  • Otolaryngology

Background:

  • Syndromic craniosynostosis is associated with airway anomalies.
  • Tracheostomy is sometimes necessary for airway management in these children.

Purpose of the Study:

  • To evaluate indications for tracheostomy in children with syndromic craniosynostosis.
  • To identify and characterize laryngotracheal anomalies in this cohort.
  • To explore the genetic basis of these airway anomalies.

Main Methods:

  • Retrospective review of 11 patients with syndromic craniosynostosis who underwent tracheostomy.
  • Analysis of prospectively collected data from 1999-2012.
  • Review of diagnostic microlaryngoscopy, bronchoscopy, and tracheostomy findings.
  • Genetic analysis for fibroblast growth factor gene mutations.

Main Results:

  • Upper airway obstruction refractory to other treatments was the primary indication for tracheostomy.
  • Common laryngotracheal anomalies included tracheal cartilaginous sleeve.
  • A novel "figure-of-eight" trachea was observed.
  • Fibroblast growth factor gene mutations were present in 71% of patients with airway anomalies.

Conclusions:

  • Syndromic craniosynostosis patients require thorough airway evaluation due to frequent anatomical anomalies.
  • Specialized airway management is crucial for this population.
  • Genetic factors, particularly fibroblast growth factor gene mutations, are implicated in airway anomalies.

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