Craniofacial and Oral Features of Oculo-Auriculo-Vertebral Spectrum (OAVS): A Report of 14 Cases

Objectives: Oculo-auriculo-vertebral spectrum (OAV) is a congenital malformation caused by the developmental defects of the first and the second branchial arches during the 7th week of gestation. Chromossome 22q11 microduplications and microdeletions have been reported previously in patients with OAVS. Microtia, ocular alteration, mandibular hypoplasia and vertebral anomalies are the main manifestations of this syndrome besides other heterogeneous anomalies.The present study aimed to characterize the craniofacial and oral features of 14 OAVS patients.
Methods: 14 male and female patients, ages range 5 to 39 years old , diagnosed with OAVS by the Medical Genetics Department of the University Hospital of Brasília (HUB) were referred to the Oral Care Center for Inherited Diseases for dental treatment . After parent’s informed consent, anamnesis, clinical examination, photographs, cone beam tomography (CT) and ultrasonography of salivary glands were taken.
Results: Microtia and preauricular tags were observed respectively in 71,4% and 50% of the sample. In adition, dermoid epibulbar was registered in 14,2% of the cases followed by coloboma of iris associated with blindness and abnormalities of cervical vertebrae in 7.1%. Most of the patients presented facial asymmetry (78.5%) and malocclusion (57.1%). Increased mandibular angle was present in 42.8% of cases followed respectively by hypoplasia and aplasia of the coronoid process in 28,7% and 21.4%. Abnormalities in the coronoid process were not previously described in the literature. Developmental defects of enamel (DDE) were observed in 35,7% of the patients while hypoplasia and aplasia of the major salivary glands were diagnosed by ultrasound examination in six patients (42,8%).
Conclusions: The multiplicity and complexity of oral and craniofacial abnormalities in a significant proportion of patients with OAVS require multidisciplinary team for treating and long-term following-up for the affected individuals.