X 등완염색체에 동반된 1례를 포함하는 Kabuki Make-up 증후군 2례

초록

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.

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