Background: Reported birth prevalence of Goldenhar syndrome and Oculo-Auriculo-Vertebral Spectrum (OAVS) vary,
however, a systematic review of prospective studies has not been done.
Objective: To review the birth prevalence of Goldenhar syndrome and OAVS systematically in documented prospective
reports.
Material and Method: A systematic literature search was conducted through PubMed and Scopus between 1952 and April
2017, using the search terms “Goldenhar syndrome” or “oculoauriculovertebral spectrum [Oculo-Auriculo-Vertebral
spectrum]” and “prevalence”.
Results: Among the 4 prospective, register-based studies, there were 295 patients with either Goldenhar syndrome (134
cases) or the severe form of OAVS (161 cases) found in a study population of 8,104,255 births. Despite the lack of a wellaccepted definition of these conditions, the current study calculated the pooled-average, birth prevalence of Goldenhar
syndrome or the severe form of OAVS to be 1 case per 27,472 births (0.36 [95% confidence interval, 0.32 to 0.41] cases per
10,000 births).
Conclusion: The differences in the birth prevalence may be due to (a) the lack of a well-accepted case definition, (b) differences in case ascertainment methods, (c) data processing, (d) true differences in the risk for Goldenhar syndrome and OAVS among population groups, and/or (e) other unidentified factors.

Keywords: Goldenhar syndrome, Oculoauriculovertebral dysplasia, Oculoauriculovertebral spectrum, Prevalence, Birth,
Branchial arches, Hemifacial microsomia