Abstract

Goldenhar syndrome, also known as oculo-auriculo-vertebral syndrome is a rare congenital condition arising from defects in the first and second brachial arches. Clinically, the patient may present with a variety of features ranging from eye abnormalities, facial abnormalities, ear abnormalities, , vertebral defects, and congenital heart problems.
A case of 6 year old female child with RE upper lid coloboma and Limbal Dermoid cyst. Examination revealed congenital deafness , right sided preauricular tags , high arched palate , deviation of angle of mouth, scoliosis and altered posture . BERA , OAE and CT spine was done to confirm the findings . 2D Echo report was showing perimembranous VSD with left to right shunt and patent foramen ovale .
The combination of ocular features , external ear anomalies and skeletal abnormalities are the hallmark of Goldenhar syndrome as seen in our case .