Kabuki make-up syndrome associated with congenital heart disease

• Published in: Zhonghua minguo xiaoerke yixuehui zazhi Vol. 35; no. 1; p. 63
• Main Authors: Wang, L C, Chiu, I S, Wang, P J, Wu, M H, Wang, J K, Hung, Y B, Lin, S J
• Format: Journal Article
• Language: English
• Published: China (Republic : 1949- ) 01.01.1994
• Subjects: Abnormalities, Multiple; Child, Preschool; Face - abnormalities; Hand Deformities, Congenital - complications; Heart Defects, Congenital - complications; Humans; Intellectual Disability - complications; Male; Syndrome

The Kabuki make-up syndrome, reported in 1981 by Niikawa et al. and Kuroki et al. independently, is also known as "Niikawa-Kuroki syndrome". Here we report two cases of this syndrome, both of them were boys, showing facial dysmorphism, hand abnormalities and congenital heart disease. The f...