Two Cases of Kabuki Make-up Syndrome Including One Case Associated with Xq Isochromosome.
- Author:
Ki Hae CHO
1
;
Jung Hwa LEE
;
Kee Hyoung LEE
;
Kwng Chul LEE
;
Ji Tae CHOUNG
;
Chang Sung SON
;
Young Chang TOCKGO
Author Information
1. Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Kabuki make-up syndrome;
Turner syndrome;
X chromosome;
Isochromosome
- MeSH:
Asian Continental Ancestry Group;
Child;
Dermatoglyphics;
Eyebrows;
Eyelids;
Humans;
Isochromosomes*;
Karyotype;
Turner Syndrome;
X Chromosome
- From:Journal of the Korean Pediatric Society
2000;43(8):1111-1115
- CountryRepublic of Korea
- Language:Korean
-
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 chrornosome 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.
