Goldenhar Syndrome

 

Background 

  • Also called oculo‐auriculo‐vertebral syndrome or hemifacial microsomia

  • Developmental disorder of the first & second branchial arches

  • Most frequently unilateral

  • Characterized by: ​

    • Malformations/hypoplasia of the external & middle ear often with sensorineural hearing loss

    • Mandibular hypoplasia

    • Congenital heart disease in about a third of patients, most commonly septal & conotruncal defects (e.g. Tetralogy of Fallot) 

    • Eye abnormalities (e.g. microphthalmus & epibulbar dermoids)

    • Vertebral anomalies including cervical spine malformations & scoliosis

    • Developmental delay & autism spectrum disorder in some patients

 

Considerations

 

  • Pediatric patient considerations 

  • Potentially very difficult airway​

    • Airway is difficult due to mandibular hypoplasia & inadequate space for direct laryngoscopy

    • Airway plan essential with multiple adjuncts, have ENT/surgical option on stand-by, plan on spontaneously breathing sleep technique (titrated TIVA vs IH).  Fiberoptic or video‐assisted laryngoscopy are almost always required. 

  • Congenital heart disease in about a third of patients​

    • Most commonly septal & conotruncal defects (e.g. Tetralogy of Fallot)

  • OSA more common in this patient population