Kabuki make-up syndrome associated with congenital heart disease.

TitleKabuki make-up syndrome associated with congenital heart disease.
Publication TypeJournal Article
Year of Publication1994
AuthorsWang LC, Chiu IS, Wang PJ, Wu MH, Wang JK, Hung YB, Lin SJ
JournalZhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui
Volume35
Issue1
Pagination63-9
Date Published1994 Jan-Feb
Abstract

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 dysmorphismi, hand abnormalities and congenitali heart disease. The first case had developmental retardation noticed since 3 months old and frequent upper respiratory tract infections in the following years, and the cardiac echo revealed mitral regurgitation and tricuspid regurgitation. The second case had patenti ductus arteriosusi and ventricular septal defecti diagnosed at 17 days old. He underwent corrective surgery for his heart problems, he also couldn't complete a sentence at two and half years old. It was estimated that the incidence of this syndrome was 1/32,000 in Japanese Children, and Chinese are similar to Japanese as yellow-skinned oriental, there should be more cases in our country, and a detailed cardiac study may be necessary for them.

Alternate JournalZhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
Citation Key8178645