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Kabuki make-up syndrome: A review

✍ Scribed by Matsumoto, Naomichi ;Niikawa, Norio


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
139 KB
Volume
117C
Category
Article
ISSN
0148-7299

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We report on a total of 4 individuals in 2 families with Kabuki make-up syndrome. In family 1, the proposita, a 2 4/12-year-old girl and her mother had typical Kabuki make-up syndrome. The proposita also had early breast development. In family 2, the proposita, a 6-month-old girl and her mother had

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We describe a male patient with interstitial duplication of the short arm of chromosome 1 with breakpoints involving 1p13.1 and 1p22.1. The patient presented with some clinical findings of Kabuki make-up syndrome (KMS), including mental retardation, small head, eversion of the lateral part of lower