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  • Title: Goldenhar syndrome (oculo-auriculo-vertebral spectrum): Findings on cone beam computed tomography-3 case reports.
    Author: Maryanchik I, Nair MK.
    Journal: Oral Surg Oral Med Oral Pathol Oral Radiol; 2018 Oct; 126(4):e233-e239. PubMed ID: 29857980.
    Abstract:
    BACKGROUND: Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a variant of hemifacial microsomia, a congenital condition affecting primarily aural, oral, and mandibular development, with vertebral anomalies, ocular abnormalities, and epibulbar dermoids. As a complex and heterogeneous condition, this disorder varies from mild to severe, and involvement is unilateral in many cases, but bilateral involvement is also known to occur. It presents several complex problems in treatment, requiring an integrated, multidisciplinary approach. CLINICAL AND RADIOGRAPHIC FINDINGS: Oculo-auriculo-vertebral spectrum has a wide range of clinical manifestations. This report describes radiographic features of the syndrome in 3 patients, as visualized on maxillofacial cone beam computed tomography. Pertinent radiographic findings include multiple substantial unilateral anomalies affecting the skull, cervical vertebrae, orbits, ears, maxilla, mandible, and teeth. DEFINITIVE INTERPRETATION: Radiographic features are consistent with those previously reported in the literature for oculo-auriculo-vertebral spectrum. CONCLUSIONS: It is important to emphasize the relevance of diagnostic imaging and characterization of the syndrome as well as the significance of coordinated diagnosis and management approaches among oral and maxillofacial radiologists and medical/dental specialists to allow for planning and implementation of interdisciplinary intervention at an early stage.
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