Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome
β Scribed by Kobayashi, Osamu ;Sakuragawa, Norio
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 158 KB
- Volume
- 61
- Category
- Article
- ISSN
- 0148-7299
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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
Kobayashi and Sakuragawa [ 19961 recently reported on a familial case of Niikawa-Kuroki (Kabuki makeup) syndrome, suggesting autosomal-dominant inheritance. Another family demonstrating autosomaldominant inheritance was described by Halal et al. [ 19801. In both reports, significant intrafamilial v
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