Treacher Collins Syndrome

 

 

Background 

 

  • TCS is an autosomal dominant disorder of bilateral facial development

  • Abnormalities can result in airway narrowing & respiratory compromise.  Affected patients may require prone positioning or surgery to maintain a patent airway.  

  • Features: ​

    • Malar hypoplasia & a cleft in the zygoma 

    • Eyes have an antimongloid slant with colobomas (eyelid notch) along the lateral 1/3 of the lower lid

    • Lashes are absent from the medial 2/3 of the lower eyelid

    • Face has a convex profile with a retrusive chin & jaw.  Associated with an overbite 

    • External ear abnormalities are common 

Considerations 

 

  • Pediatric patient considerations 

  • Potentially very difficult airway​

    • Airway is difficult due to high arched palate & mandibular hypoplasia 

    • Airway becomes more difficult as patient gets older

    • Airway plan essential with multiple adjuncts, have ENT/surgical option on stand-by, plan on spontaneously breathing sleep technique (titrated TIVA vs IH) 

    • LMA & video laryngoscope use have been successfully described in these patients 

  • OSA considerations. OSA is a common comorbidity 

  • Association with congenital heart disease (uncommon) 

  • Deafness common