A case report of severe scoliosis in a boy with goldenhar syndrome

Abstract

Goldenhar syndrome is a condition comprising various congenital anomalies of structures developing from the first and second branchial arches. Classically, it includes impaired development of structures such as eyes, ears, lips, tongue, palate, mandible, maxilla, and vertebral anomalies. The etiology for this syndrome is not clear; however, genetic and many other causes have been described for the development of the abovementioned anomalies. A 13-year-old boy presented with deformity of the back since birth, which is gradually progressing, now causing difficulty in breathing on exertion. Parents give a history of anomalies of the eyes, ear, face, and deformities of the neck and chest since birth. X-ray, computed tomography, and magnetic resonance imaging of the spine showed severe congenital scoliosis with multiple vertebral and rib anomalies with no intraspinal anomalies or spinal cord malformations. Posterior scoliosis correction and fusion with convex side costoplasty were performed after a detailed preoperative workup in view of syndromic etiology. Postoperatively, the boy was stable and the check X-ray showed satisfactory deformity correction. Severe scoliosis with Goldenhar syndrome always throws a challenge to treating spine surgeons as they are associated with multiple other regional and systemic abnormalities. A detailed examination, preoperative clinical and radiological workup, and proper planning are very much essential in treating these deformities.