Kabuki Syndrome: a case report with severe ocular abnormalities

Kabuki Syndrome: a case report with severe ocular abnormalities

Blog Article

Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency.Patients present characteristic external ocular features, nonetheless they may also present significant ocular lochby venture pouch abnormalities.We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations.This case highlights the existence of this syndrome and all of its complexity.The identification of preventable causes of click here loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.