Oculoauriculovertebral spectrum in two siblings

Summary 

Oculoauriculovertebral spectrum (OAVS) represents a clinical continuum of craniofacial anomalies affecting the first and second branchial arches. They are characterized by eye and ear abnormalities, potentially severe facial asymmetry, as well as other well-described features. The occurrence of most cases is sporadic, but a few cases of familial inheritance are documented in the literature. This report documents two new cases of OAVS occurring in two siblings without other known affected relatives.

Keywords: Oculoauriculovertebral, Goldenhar, Hemifacial microsomia, Sibling pair