An Atypical Presentation of Goldenhar Syndrome With Seizures: A Rare Case Report

The Goldenhar syndrome also known as oculo-auriculo-vertebral dysplasia is one of the rare congenital defects that usually involves the impaired development of structures derived from first and second branchial arches such as ears, eyes, mandible, palate and various other structures of the face along with spinal abnormalities. The severity of Goldenhar syndrome anomalies can range from minor to severe, and patients with modest facial asymmetry to those with a highly evident facial abnormality. The most typical characteristics of this condition are dental ailments and impaired development of the mandible, maxilla, zygomatic, orbital, lips, tongue, and palate. It may also include hemifacial microsomia along with the cleft lip or cleft palate. The aetiology may include genetic and environmental factors but in most of the cases, the aetiology remains unknown. Gestational diabetes mellitus is also one of the leading risk factors associated with Goldenhar syndrome. The treatment and management depend upon the age of the patient and the clinical presentation. This case report describes an eight-year-old male child with generalised tonic-clonic seizures in all the limbs along with peri auricular skin tags, mandibular hypoplasia and esophageal stricture. There were no ocular findings or vertebral deformities.