Oculo-auriculo-vertebral spectrum with radial defects, a bifid condyle and taurodontism: A case report

Abstract

Goldenhar syndrome (GS) is a rare congenital anomaly involving the first and second branchial arches. It is an autosomal dominant genetic disorder in which there is abnormal prenatal development of the head and face leading to the subsequent asymmetry of craniofacial structures. It is generally sporadic, with its incidence ranging from 1:3,500 to 1:5,600 live births and a gender ratio of 3:2 (male:female). Goldenhar syndrome is considered to be a variant of hemifacial microsomia, characterized additionally by vertebral anomalies and epibulbar dermoids. Facio-auricular dysplasias represent a single disorder with great variability of expression, and an isolated ear malformation may represent the mildest expression of the disorder. This report presents a case of the oculo-auriculo-vertebral spectrum (OAVS) with radial defects, a unilateral bifid condyle and taurodontism. The presence of a bifid condyle and taurodontism has not been previously reported in the literature. Whether this is a coincidental or new finding has to be hypothesized and confirmed. The documentation of all such new findings is of utmost importance for updating the existing literature.