Goldenhar syndrome: report of rare findings in the cervical spine, coronoid process, and temporal bone

Abstract

Introduction

Goldenhar syndrome is a rare developmental condition considered by some to be a variant of hemifacial microsomia. In 1991, Vento et al. described the O.M.E.N.S. classification for hemifacial microsomia (HM), further supporting the consideration of Goldenhar syndrome as an HM subtype as the result of effects on the orbit, mandible, ear, facial nerve, and soft tissues.

Clinical Presentation

This report presents the case of a 16-year-old female patient diagnosed with Goldenhar syndrome shortly after birth. Anonymized findings from recent cone beam computed tomography will be presented in addition to those of multidetector computed tomography acquired over the course of surgical management. Key findings include unilateral coronoid hyperplasia of the unaffected side, pseudo-joint formation from the left transverse process of C1 to the occipital condyle, and proliferation of the temporal bone with an appearance suggestive of fibro-osseous disease.

Differential Diagnosis

Anomalies of the coronoid process and cervical spine are likely accounted for by the patient's diagnosed developmental anomaly. A case with a similar presentation of the coronoid process could not be found in the literature, whereas the patient's vertebral anomalies are not dissimilar to a limited number of cases reported in 2017 by Renkema et al. Fibrous dysplasia may account for the presentation of the patient's temporal bone on the affected side.

Diagnosis and Management

Surgical procedures pursued to address the patient's diagnosed condition included multiple rib grafts, distraction osteogenesis, surgeries to address microtia on the affected side, an inverted L-osteotomy, and open reduction with internal fixation.

Conclusion

This case represents a unique combination of vertebral, mandibular, and temporal bone anomalies yet to be reported in the literature.