| Two Cases of Kabuki Make-up Syndrome Including One Case Associated with Xq Isochromosome |
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Ki Hea Cho, Jung Hwa Lee, Kee Hyoung Lee, Kwang Chul Lee, Ji Tae Choung, Chang Sung Son, Young Chang Tockgo |
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Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea |
| X 등완염색체에 동반된 1례를 포함하는 Kabuki Make-up 증후군 2례 |
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조기혜, 이정화, 이기형, 이광철, 정지태, 손창성, 독고영창 |
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고려대학교 의과대학 소아과학교실 |
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| Abstract |
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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. |
| Key Words:
Kabuki make-up syndrome, Turner syndrome, X chromosome, Isochromosome |
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