Severe Kyphoscoliosis in a Patient with Goldenhar Syndrome: A Case Report

Abstract

Introduction: Goldenhar syndrome includes a wide spectrum of congenital anomalies involving structures arising from the first and second branchial arches. It is characterized by impaired development of structures such as eyes, ears (with or without hearing loss), lip, tongue, palate, mandible, maxilla, and deformations of vertebrae. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Case Report: A 13-year-old male presented to the Orthopedic Department with complaints of back bulge with bilateral microtia since birth. X-ray and computed tomography revealed severe congenital kyphoscoliosis. Posterior vertebral column resection surgery with instrumentation and anterior cage support with bone graft fusion were performed. A postoperative plain X-ray film demonstrated a good correction rate. His follow-up was asymptomatic and well balanced in the sagittal and coronal planes at 6 months following operation. Systemic involvement was clinically and radiographically assessed. Conclusion: Patients with Goldenhar syndrome due to a large variety of abnormalities and different severity of symptoms pose a challenge for clinicians. All of this necessitates an individual approach to each single patient and involvement of a team of specialists in treatment planning. Although complex scoliosis surgery could be achieved safely in Goldenhar syndrome patients, careful preoperative management is required.

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“…The kyphoscoliosis in thoracolumbar region can be associated with craniofacial microsomia in Goldenhar syndrome. The simultaneous development of the first two branchial arches and vertebrae during early embryonic life can cause both facial defects and scoliosis [4,22]. Another…”

“…syndrome related to kyphoscoliosis though rarely is Klippel-Trenaunay. It is a congenital syndrome with varicose veins, capillary hemangioma, and limb enlargement [4]. In a congenital syndrome such as Cohen syndrome, kyphoscoliosis is not present at birth.…”

“…The bulge on the back is the striking feature of patient of kyphosis. The condition is usually of such a slight degree that it does not affect the patient [3].There are reports of kyphoscoliosis in patients with Goldenhar syndrome, Klippel-Trenaunay syndrome, Cohen syndrome, and neurofibromatosis [4][5][6][7]. The Goldenhar syndrome can be called as OCULO-AURICULO-VERTEBRAL DYSPLASIA, it's an embryological defect of the derivatives of 1 st and 2 nd pharyngeal arches.…”