Article
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.
European journal of pediatrics - 1 Jun 1994
Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, König R, Philip N, Rizzo R, Schrander J, Pfeiffer L
Abstract excerpt
The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. and Kuroki et al. in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate menta...
Topics
- Abnormalities, Multiple
- Adolescent
- Child
- Child, Preschool
- Dermatoglyphics
- Face
- Female
- Humans
- Infant
- Intellectual Disability
- Japan
- Male
- Phenotype
- Syndrome