Objectives The objectives of this study were to characterize the craniofacial and airway morphology of oculo‐auriculo‐vertebral spectrum (OAVS) individuals using computed tomography (CT) examination. Setting and Sample Population This sample included individuals in the age range from 5 to 14 years, consisted of a group of 18 OAVS individuals (12 females and 6 males), Pruzansky‐Kaban1 IIB and III and by a paired control group matched by age and sex for comparison of morphometric and airway variables. Materials and Methods Through the CT examination, airway analysis was performed using Dolphin Imaging® Software, and seven morphometric measurements were performed to evaluate craniofacial morphology by Materialize Mimics® Software. To compare airway and morphometric variables, the control group was used. Student's t test and Mann‐Whitney U test were performed to compare differences between the groups. Results Statistically significant differences were showed between the control and OAVS groups for the variables: total airway (TA) area, volume and MAA, RP area, RP volume, RP MAA, RG volume, RG MAA, total posterior height diff, Md incl and y‐axis asymmetry. Pearson and Spearman's correlation showed mostly moderate correlations between Mand Occlusal canting AS with TA area and RP volume, Ax‐Gn with TA area and Hy‐C3 with TA volume. Conclusions The OAVS's airway was altered and worse than the control group. Our results suggest that the contralateral side of OAVS individuals is unaffected; however, longitudinal assessments are needed to confirm it. Hyoid bone and postural measures play an important role in interpreting airway features of individuals with and without OAVS.

Introduction: The oculoauriculovertebral spectrum (OAVS) are anomalies of the first and second pharyngeal arches, causing craniofacial changes, principally facial asymmetry, as well as anomalies in the spine, that can be a cause of instability of the craniocervical junction - manipulation of an unstable spine can result in morbimortality. However, few studies have related OAVS to craniocervical instability. Objectives: Correlate patients with OAVS through radiography with craniocervical instability and prediction of its occurrence. Material and Methods: Through a radiographic study of the cervical spine, the assessment of vertebral malformations and the presence of craniocervical instability was performed and clinical assessment using the OMENS score as a phenotypic criteria for patients with OAVS, by a specialized multidisciplinary team. Student’s t test, Kolmogorov-Smirnova, and χ2 were performed. Results: Twenty-six patients with OAVS were evaluated, 7 (26.9%) had craniocervical instability, the OMENS score was 3 times higher, but without statistical significance. All patients with instability also had spinal malformations, and of those without craniocervical instability (19 patients), 57.8% had spinal malformations. Vertebral malformations had a similar incidence in those with and without instability, the most common being scoliosis. There was no statistical significance in the presence or absence of spinal malformations with the presence or absence of craniocervical instability. Extracraniofacial findings were found in all patients with instability; 71.4% of them were radial. Conclusions: Patients with higher OMENS scores had more craniocervical instability but without statistical significance. It also did not show statistical relevance between the presence of malformations and craniocervical instability.

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Introdução: O 1º e 2º arcos faríngeos contribuem com o desenvolvimento craniofacial e interferências no seu desenvolvimento podem resultar em alterações de gravidade variável, envolvendo maxila, mandíbula e orelha. Das anomalias associadas à malformação de orelha externa, a hipoplasia mandibular, o dermóide epibulbar e a anomalia de coluna cervical são as mais freqüentes e, este conjunto de sinais tem sido denominado espectro oculoauriculovertebral. O EOAV é uma condição heterogênea e complexa e o espectro de anomalias inclui desde microtia isolada até outras anomalias cranianas e extracranianas. Objetivo: analisar e descrever a morfologia da mandíbula, com ênfase na articulação temporomandibular (ATM) e investigar orelha média e interna em indivíduos com anomalias de 1º e 2º arcos faríngeos cadastrados no Serviço de Genética Clinica do HRAC-USP. Indivíduos estudados e métodos: avaliação genética-clínica e avaliação por imagem enfocando orelha média, interna e côndilo mandibular foram realizadas em 56 indivíduos, cadastrados no Serviço de Genética Clínica do Hospital de Reabilitação de Anomalias Craniofaciais-USP. O critério mínimo utilizado foi a presença de microtia isolada ou de microssomia hemifacial com malformação auricular leve, como apêndices pré-auriculares. Resultados e conclusão: anomalias envolvendo côndilo mandibular e/ou mandíbula e anomalias de orelha média mostraram alta freqüência (87.5% e 96.1%, respectivamente) nos indivíduos da presente casuística. Relação preditiva entre a ocorrência e a gravidade das anomalias de côndilo mandibular e/ou mandíbula com o acometimento da orelha externa e, relação preditiva para a ocorrência do acometimento do côndilo mandibular com a ocorrência de anomalias estruturais de orelha média e orelha interna foram observadas. Para a avaliação da ATM, a Resumo tomografia computadorizada foi considerada o exame de eleição. A investigação das estruturas do côndilo mandibular, da orelha média e interna deve fazer parte do protocolo de avaliação dos indivíduos com anomalias de 1º e 2º arcos faríngeos. Palavras-chave: Espectro oculoauriculovertebral. Síndrome de Goldenhar. Côndilo anômalo. Malformação de orelha média. Malformação de orelha interna.