Kabuki make-up syndrome and report of a case with hydrocephalus
β Scribed by H. Kasuya; Takashi Shimizu; Satoshi Nakamura; Kintomo Takakura
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 430 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0256-7040
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π SIMILAR VOLUMES
Three patients, a female and two males, 28, 15, and 14 years of age, with Kabuki makeup syndrome (KMS) were studied for middle and inner ear abnormalities by using CT scanning of the petrous bones. All three patients had bilateral dysplasia of the inner ear, i.e., hypodysplasia of the cochlea, vesti
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
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
Fig. 1. The patient at 8 years of age showing typical facial features of Kabuki make-up syndrome (A); a brain MRI study revealed cerebellar and brainstem atrophy (B-D).
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