Severe scoliosis and restrictive lung disease associated with Goldenhar syndrome: A case report

Goldenhar syndrome is a rare congenital condition associated with a wide range of phenotypic variations resulting structural abnormalities in the face, eyes, ears and various organs. Primary findings are vertebral abnormalities which are mainly localized in cervical and thoracic regions. Scoliosis may develop as a result of vertebral abnormalities and can cause important clinical outcomes and disability. Diagnosis is usually made by physical examination and radiological imaging; however, genetic consultation may be required to confirm the diagnosis. Treatment protocol varies according to age and the severity of clinical manifestations.