Kabuki make-up syndrome associated with congenital heart disease.
Journal
Acta Paediatrica Sinica
Journal Volume
35
Journal Issue
1
Pages
63-69
Date Issued
1994
Author(s)
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 dysmorphism, hand abnormalities and congenital 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 patent ductus arteriosus and ventricular septal defect 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.
SDGs
Other Subjects
article; case report; congenital heart malformation; congenital malformation; face; hand malformation; human; male; mental deficiency; multiple malformation syndrome; preschool child; syndrome; Abnormalities, Multiple; Child, Preschool; Face; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Mental Retardation; Syndrome
Type
journal article