Kabuki Syndrome: a case report with severe ocular abnormalities
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 signif