Goldenhar Syndrome—Embryological, Anatomical, Etiopathogenic Mechanisms and Treatment of Obstructive Sleep Apnea

Goldenhar syndrome is a developmental defect of the 1st and 2nd brachial arches. Facial asymmetry and ear–eye abnormalities are observed. Frequent presence of concomitant issues, including severe OSA (obstructive sleep apnea) and sialorrhea, have also been recorded. The presentation of Goldenhar syndrome is highly variable, and treatment procedures also differ, with surgical treatment often being mandatory. Common symptoms of OSA include loud snoring, gasping, and morning headaches. If untreated, it may lead to high blood pressure, hyperinsulinemia, heart problems, stroke, and daytime sleepiness. Its etiology in Goldenhar syndrome is primarily anatomical and multifactorial. The most common treatment options are based on surgical procedures. Continuous positive airway pressure (CPAP) could be considered for use in individuals with Goldenhar syndrome. Mandibular advancement is a standard procedure for relieving the symptoms of OSA. In general, mandibular advancement would reduce apnea and hypopnea. Another method of managing OSA is hypoglossal nerve stimulation (HNS). Adenotonsillectomy is often the first-line surgical treatment for OSA but it is rarely curative in Goldenhar patients due to underlying skeletal issues. In contrast to American Academy of Sleep Science recommendations of managing OSA, in patients with congenital syndromes, surgical intervention seems to be the most optimal method of treatment.