Oculo Auriculo Vertebral Spectrum

Oculo-auriculo-vertebral spectrum (OAVS) is a congenital disorder of craniofacial morphogenesis. It was first described by an ophthalmologist named Maurice Goldenhar as an association between ophthalmic, auricular, and facial features in 1952. After that, Gorlin et al. added vertebral anomalies to the list in 1963. Thus, it is also called Goldenhar syndrome or facio-auriculo-vertebral syndrome, or Goldenhar-Gorlin syndrome. The term OAVS originated from 'oculoauriculovertebral dysplasia,' described by Cohen et al. in 1989. They suggested that this spectrum is a phenotypic continuum with a significant overlap between malformations of structures derived from first and second branchial arches, including eyes, mouth (lips, tongue, and palate), ear, maxilla, and mandible. Internal organs like the central nervous system, heart, kidneys, and skeletal system might also be involved, due to which the term hemifacial microsomia should not be used synonymously with OAVS.  Typical phenotypes include microtia, facial asymmetry, and epibulbar dermoid or lipodermoid. Tasse et al. suggested minimum diagnostic criteria to be 'either isolated microtia or preauricular tags associated with hemifacial microsomia.'  The spectrum of OAVS can have varied clinical presentations ranging from mild or minimal facial asymmetry to severe form with marked facial defects and internal organs involvement. Developmental delay along with mental retardation has also been reported in the literature.  The management of patients with OAVS is challenging due to a large variety of abnormalities and differences in the severity of presentation. It requires an interprofessinoal approach and a team of specialists to plan the treatment, which should be individualized according to the presentation of each patient. This review highlights the etiology, pathogenesis, varied clinical presentations, and management options of patients with OAVS, with particular emphasis on ocular features.