Birth Prevalence of Goldenhar Syndrome (Severe Oculo-Auriculo-Vertebral Spectrum): A Systematic Review of Prospective Studies
Khunton Wichajarn MD*, Ouyporn Panamonta MD*, Pattara Wiromrat MD*, Pongsatorn Paopongsawan MD*, Arnkisa Chaikitpinyo MD*, Manat Panamonta MD*
Affiliation : * Department of Pediatrics, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand
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 well-
accepted 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
