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Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome

✍ Scribed by Halal, Fahed ;Gledhill, Robert ;Dudkiewicz, Aaron

Publisher
John Wiley and Sons
Year
1989
Tongue
English
Weight
524 KB
Volume
33
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 occurrence of the Kabuki make-up syndrome

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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