Oculo‐auriculo‐vertebral Syndrome (Goldenhar's Syndrome)

Abstract

Oculo-auriculo-vertebral syndrome (Goldenhar's syndrome) was found in a 10-month-old boy who had epibulbar dermoids, colobomata, pre-auricular skin tags, and hypomandibulosis.

Accessory Tragus: Report of Two Cases and Review of the Literature

“…In one study, associated developmental anomalies of the pharyngeal arches were present in 3 of 52 patients (5.8%) with accessory tragus (19). Associated disorders include mandibulofacial dysostosis (Treacher–Collins syndrome) in its complete and partial forms (25), and the oculoauriculovertebral syndrome (Goldenhar syndrome), in which accessory tragus accompanies epibulbar dermoid cysts and vertebral defects (26). The latter syndrome is probably the only disorder in which accessory tragus is a constant finding (24).…”

Familial Occurrence of Isolated Accessory Tragi

“…They may be associated with other anomalies of the first branchial arch, such as cleft lip and palate, branchial fistulae, and hyperplasia of the mandible, or they can be a feature of more complex developmental abnormalities, such as oculoauriculovertebral syndrome (Goldenhar syndrome), mandibulofacial dysostosis (Treacher Collins syndrome), and otomandibular dysostosis (hemifacial microstomia) (1)(2)(3)5). Of these, accessory tragi are a constant component of Goldenhar syndrome only, in which they contribute to the pathognomonic triad together with epibulbar dermoids or lipodermoids and vertebral anomalies (6,8). The occurrence of accessory tragi in combination with various anomalies suggests that Goldenhar syndrome, as well as isolated accessory tragi, may simply be a gnwiation in severity of a complex, unique error in morphogenesis that may be designated as the facioauriculovertebnd spectrum (9,10).…”

Accessory Tragi and Associated Syndromes Involving the First Branchial Arch

“…The oculo‐auriculo‐vertebral syndrome (Goldenhar's) 3–6 is probably the only disorder in which accessory tragi are a constant finding. This condition is characterized primarily by the triad of epibulbar dermoids or lipodermoids, vertebral abnormalities, and accessory tragal appendages.…”