All issues > Volume 43(8); 2000

Case Report

J Korean Pediatr Soc. 2000;43(8):1111-1115. Published online August 15, 2000.

Two Cases of Kabuki Make-up Syndrome Including One Case Associated with Xq Isochromosome

Ki Hea KH Cho¹, Jung Hwa JH Lee¹, Kee Hyoung KH Lee¹, Kwang Chul KC Lee¹, Ji Tae JT Choung¹, Chang Sung CS Son¹, Young Chang YC Tockgo¹

¹Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea

Abstract

Kabuki make-up syndrome(KMS) is characterized by mental and developmental retardation and peculiar facial features including long palpebral fissures with eversion of the lateral portion of lower eyelid and arching of eyebrows, resembling the actors in Japanese Kabuki. In addition, dermatoglyphic and skeletal abnormalities are commonly associated. Although most karyotypes of KMS are shown to be normal, there have been some reports suggesting the involvement of X chromosome in KMS. We report here two children showing the main features of KMS, one of whom has a mosaic Turner karyotype of 45,X/46,Xi(Xq). We reviewed KMS and its association with abnormalities of X chromosome.

Keywords :Kabuki make-up syndrome, Turner syndrome, X chromosome, Isochromosome