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
The dermatoglyphic pattern of the Kabuki make-up syndrome
โ Scribed by N. Niikawa; Y. Kuroki; T. Kajii
- Book ID
- 119839300
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 473 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0009-9163
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We report on three individuals (two sibs and their father) with the Kabuki make-up syndrome. The two sibs had congenital dislocation of the hips and all three individuals had short stature and the facial characteristics of the syndrome. To our knowledge this is the first report of familial occurrenc
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