Four Cases Presenting with Distinct Associations in Oculoauriculovertebral Spectrum

Abstract

Oculoauriculovertebral spectrum (OAVS) is characterized by a wide spectrum of symptoms and physical features that may vary greatly in range and severity from case to case. Oculo-auriculovertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microsomia appears to be an intermediate form. Here we report four cases with different phenotypic expressions. Case 1 had unilateral anotia with cardiac and urogenital abnormalities. Case 2 was an offspring of a diabetic mother, presenting with unilateral microtia, facial paralysis and sacral agenesis. Case 3 had unilateral anotia plus hemifacial microsomia and facial clefting accompanied to Hirsprung disease. Case 4 was presenting with microtia/preauricular tags plus hemifacial microsomia without accompanying any other system abnormalities. Two had a positive family history, one of them was represented an autosomal dominant (case 1), and the other was autosomal ressesive mode of inheritance (case 4). Based on these cases, we highlighted the heterogeneity of the presentation and genetic etiology of OAVS.