Dr.sai sneha yadlapalli

Dr.Anees Fatima

Abstract

Goldenhar syndrome is a rare congenital disorder also known as oculo-auriculo-vertebral dysplasia and characterized by classic triad of mandibular hypoplasia with facial asymmetry, oculo-auricular malformations and vertebral abnormalities. Here we report a case of 16yrs old male patient with a chief complaint of fleshy mass in both the eyes since birth. history of consanguinity present. He underwent Total Cavo pulmonary connection for tricuspid VSD. On examination, facial asymmetry with mild mandibular hypoplasia is seen, associated with preauricular skin tag near left and right external ear pinna, micrognathia, hearing loss and drooping of right shoulder. On ocular examination, V/A(unaided) RE-6/9, LE 6/24, with full and free EOM. He had a 3*4cm limbal dermoid with protruding hair in infratemporal quadrant involving 2mm of peripheral cornea in right eye and a epibulbar dermoid in the left eye temporally. On fundus examination RE is normal and LE showed retinochoroidal coloboma.