Learning objectives

• Describe Goldenhar syndrome
• Understand how Goldenhar syndrome affects the airway
• Discuss the perioperative management of patients with Goldenhar syndrome

Definition and mechanisms

• Goldenhar syndrome (GS), also called oculo-auriculo-vertebral syndrome or hemifacial microsomia, is a rare disorder of craniofacial development
• Congenital malformation of the first and second branchial arches, resulting in the incomplete development of the ear, nose, soft palate, lip, and mandible (usually unilateral)
• It is characterized by the triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies
• Patients can also present with heart, kidney, and lung malformations, and central nervous system defects
• Male-to-female ratio 3:2

Signs and symptoms

• Mandibular hypoplasia (facial asymmetry)
• Eye anomalies: Microphthalmia, anophthalmia, epibulbar dermoids, and eyelid colobomas
• Ear anomalies: Preauricular tags, anotia (totally absent ear), and microtia (partially formed ear)
• Vertebral anomalies: Scoliosis, kyphosis, hemivertebrae, and cervical fusion
• Cleft lip and/or palate
• Wider than normal mouth
• Hydrocephalus
• Congenital heart defects in ⅓ of patients (most commonly septal and conotruncal defects, e.g., tetralogy of Fallot)
• Genitourinary malformations (e.g., ectopic or fused kidneys, renal agenesis, ureteropelvic junction obstruction, or vesicoureteral reflux)
• Partial or complete unilateral lung hypoplasia
• Developmental delay and autism spectrum disorder in some patients

Complications

• Vision problems and/or loss
• Hearing loss
• Feeding difficulties
• Speech difficulties
• Obstructive sleep apnea (OSA)
• Strabismus
• Pulmonary hypoplasia might increase the risk for respiratory infections, pulmonary hypertension, and pneumothorax 
• Severe spinal deformities might cause restrictive lung disease and further decrease pulmonary function

Treatment

• Eyeglasses or surgery to improve vision
• Hearing aids or bone-anchored auditory implants 
• Feeding assistance with special bottles or nasogastric feedings
• Speech therapy to increase language and communication skills
• Reconstructive surgery
• Surgery to correct a congenital heart defect, cleft lip or palate, obstructive sleep apnea, microtia, or spinal defect

Management

Suggested reading

• Sun YH, Zhu B, Ji BY, Zhang XH. Airway Management in a Child with Goldenhar Syndrome. Chin Med J (Engl). 2017;130(23):2881-2882. 
• Goldenhar Syndrome. In: Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ. eds. Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill; 2006. Accessed February 09, 2023. https://accessanesthesiology.mhmedical.com/content.aspx?bookid=852&sectionid=49517623 
• Kaymak C, Gulhan Y, Ozcan AO, Baltaci B, Unal N, Safak MA, Oguz H. Anaesthetic approach in a case of Goldenhar’s syndrome. European Journal of Anaesthesiology. 2022; 19(11):836-838.

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