Case report – A rare syndromic association (Goldenhar syndrome)

Abstract

ABSTRACT Goldenhar syndrome is a diverse and poorly understood continuum of disorders of unknown etiology. It is a complex of developmental disorders (face, ears, eyes, spine, etc.), varying in severity in each patient. The estimated incidence of the syndrome ranges from 1 in 3500 to 5600 live births. The male-to-female ratio is approximately 3:2. Most cases of Goldenhar syndrome occur sporadically, although several case reports have documented occurrences in successive generations that require consideration of autosomal recessive, dominant, or multifactorial inheritance. Since there are other syndromes with similar features, there is still confusion regarding which cases should be classified specifically as Goldenhar syndrome. Goldenhar syndrome is a malformation complex of varying severity, involving the structures arising from the first and second branchial arches, the first pharyngeal pouch, the first branchial cleft and the primordia of the temporal bone. We are presenting a rare case of 2 ½ months old male, with asymmetry of the frontonasal area, left auricle anotia, preauricular tags, epicanthus, and left facial nerve palsy. The child had thoracic hemivertebra and fused right ectopic kidney on left side with grade IV VUR. The child had H type trachea esophageal fistula which was confirmed on CT thorax which was a cause of recurrent chest infections in child.