A Case of Kabuki Make-Up Syndrome

ABSTRACT

Kabuki make-up syndrome (KMS) was firstly reported in 1981 by Niikawa, et al. and Kuroki et al. in a total of ten unrelated Japanese children with characteristic array of multiple congenital anomalies and mental retardation. The name reflects the resemblance between the facial features of patients and the actors of Kabuki, one of the most famous traditional performing arts in Japan. The syndrome is characterized by mental and developmental retardations and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows. In addition, dermatoglyphic and skeletal abnormalities are commonly associated. In Japan, the syndrome appears to have an incidence of about 1 32,000 newborns. Outside of Japan, a growing number of patients have been recognized. However, this syndrome has been reported only a few cases in Korea. We report a boy diagnosed by clinical features with a brief review of the literature.