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
Cerebellar and brainstem “atrophy” in a patient with Kabuki make-up syndrome
✍ Scribed by Yano, Shoji; Matsuishi, Toyojiro; Yoshino, Makoto; Kato, Hirohisa; Kojima, Kazuyuki
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 9 KB
- Volume
- 71
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19970905)71:4<486::aid-ajmg22>3.0.co;2-b
No coin nor oath required. For personal study only.
✦ Synopsis
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).
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