Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome.
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.
Halal
F
F
Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.
Gledhill
R
R
Dudkiewicz
A
A
D000293:Adolescent; D000328:Adult; D002648:Child; D003878:Dermatoglyphics; D005149:Facial Expression; D005260:Female; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006618:Hip Dislocation, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics*