DR DIVYA BETALA

Abstract

A 6 month old child presented with complains of whitish opacity in both eyes since birth. She had right eye macular grade corneal opacity involving the visual axis and right eye leucomatous corneal opacity with vascularization. There is presence of long palpebral fissure, sparse eyebrows and telecanthus. Associated systemic findings are a cleft palate without cleft lip, polycystic kidney, small PDA, flared nostrils and persistent fetal finger pads. Child had no neck holding at 6 months and was severely hypotonic.

A presumptive diagnosis of Kabuki syndrome is made and child has been sent for genetic testing.