Distribution and Phenotype of Goldenhar Syndrome and Its Association With Other Anomalies

The purpose of this study was to investigate the distribution and phenotype of Goldenhar syndrome (GS) and its association with other anomalies. The samples consisted of 18 GS patients (6 males and 12 females; mean age at investigation, 7.4 +/- 4.8 y) who were treated or followed up at the Department of Orthodontics, Seoul National University Dental Hospital between 1999 and 2021. The prevalence of side involvement and degree of mandibular deformity (MD), midface anomalies, and association with other anomalies were evaluated using statistical analysis. The prevalence of unilateral and bilateral MD did not differ (55.6% versus 44.4%). In unilateral MD cases, there was a tendency for higher prevalence of more severe Pruzansky-Kaban types than mild ones (type I, 10%; type IIa, 10%; type IIb, 50%; type III, 30%). Despite hypoplasia of the condyle/ramus complex, compensatory mandibular body growth occurred in 33.3% of GS patients (more severe side in bilateral MD cases, 37.5%, and ipsilateral side in unilateral MD cases, 30%). Class II molar relation was more prevalent than class I and class III molar relations (72.2% versus 11.1% versus 16.7%, P<0.01). Al total of 38.9% of patients had congenitally missing tooth. #7 facial cleft was found in 44.4% of patients. In midface anomalies, ear problem was the most common anomaly, followed by hypoplasia/absence of zygomatic arch and eye problem (88.9% versus 64.3% versus 61.1%, P<0.01). Association with the midface, spine, cardiovascular, and limb anomalies did not differ between unilateral and bilateral MD cases. These results might provide a basic guideline for diagnosis and treatment planning for GS patients.