Kabuki make-up syndrome associated with congenital heart disease

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...

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Published inZhonghua 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
LanguageEnglish
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
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Summary: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.
ISSN:0001-6578