Distinctive spine abnormalities in patients with Goldenhar syndrome: tomographic assessment

Abstract

Purpose: Goldenhar syndrome consists of a combination of unilateral auricular appendages, auricular fistulas, and ocular epibulbar dermoids combined with a unilateral underdevelopment of the craniofacial structures and vertebral abnormalities. We aimed to elicit the underlying spine pathology in a group of patients via tomographic assessment.

Materials and methods: Hemifacial microsomia, cranial asymmetry, multiple ear tags, skin tags around the mouth and microtia were the most prominent facial features encountered in six patients with Goldenhar syndrome. Torticollis and cervico-thoracic scoliosis were the major deformities encountered in all patients. Thoraco-lumbar scoliosis and kyphoscoliosis were of lesser occurrence. Tomographic studies have been applied to all patients to delineate the underlying pathology.

Results: Diverse spectrum of distinctive spine anomalies has been identified. Malsegmentation of the skull base associated with diffuse fusion with the upper cervical vertebrae was the most common spine pathology. Bilateral failure of segmentation, unilateral unsegmented bar and failure of vertebral formation were of lesser occurrence. Strikingly, we observed that the side of the hemifacial microsomia is strongly correlated with that of the craniocervical and the cervical vertebral abnormalities.

Conclusion: The importance of this paper is threefold; first, little information is available in the literature regarding the magnitude and the diversity of spine pathology in patients with Goldenhar syndrome. Second, is to alert spine specialists that conventional radiographic assessment of the craniocervical area is an insufficient modality to assess children with syndromic associations. Third, a rotation and flexion deformity of the neck associated with facial asymmetry and/or plagiocephaly should be considered as a syndromic entity rather than a simple physiological deformation.