Insight into the genetic cause underlying Kabuki syndrome.

摘要

Kabuki syndrome is a multiple congenital anomalies syndrome characterized by a peculiar facial appearance, varying degrees of mental retardation, growth retardation, skeletal and cardiac abnormalities, and immunological defects (1). A rare condition with ~400 documented cases, Kabuki syndrome was initially identified in Japan but has now been recorded in countries all over the world. Specific dermatoglyphic abnormalities such as fingertip pads typically seen in patients with Kabuki syndrome are often used as a diagnostic marker (2).