Cervical spine considerations in Goldenhar syndrome: a clinical perspective.

Abstract

Background: Goldenhar syndrome is a clinically heterogeneous disorder defined by a rare combination of congenital anomalies-an eye abnormality, in addition to two of the following three: ear anomalies, mandibular malformations, and vertebral defects. Notably, children with Goldenhar syndrome present with a high incidence of cervical spine malformations.

Clinical case: In this report, we present an unusual case of a 15-year-old child with Goldenhar syndrome, who additionally presents with some clinical features of VACTERL syndrome. The patient was scheduled for mandibular distraction surgery with oral maxillofacial surgery. It was noted on pre-operative three-dimensional computed tomography (3D CT) that there was mild basilar invagination and stenosis of the foramen magnum. A magnetic resonance imaging (MRI) study was recommended and showed cervicomedullary compression, for which a suboccipital craniectomy and C1 laminectomy were performed.

Conclusion: Considering the cervical spine anomalies in Goldenhar syndrome, we describe precautions to manage the risk of cervical spinal cord injury during general anesthesia, including pre-operative evaluation for cervical spine compression and/or instability and minimizing neck movement during intubation. For the latter, we recommend a controlled, neutral neck position during intubation, operation, and recovery.