Kabuki Make-Up Syndrome Associated with Congenital Heart Disease

『歌舞伎臉譜症候群』(Kabuki makeup syndrome)，於1981年首度被提出，至今之案例，包括了許多人種，但仍以日本兒童居多。此症候群的主要特徵包括：特异的面孔、中度智能障礙、易受感染、發育遲滯等。其特异之面孔常表現出長而寬的眉毛、明顯的長睫毛、下外側眼瞼外翻、較長的眼裂及低扁的鼻尖。由于此面孔非常類似日本傳統歌舞劇之臉譜，故以此命名。在此症侯群中，約有1/3的案例，伴有先天性心臟病，較常見的如：心房中隔缺損、心室中隔缺損、開放性動脉導管、法洛氏四重畸形、主動脉窄縮及大血管轉位等。目前台大醫院共發現了四位『歌舞伎臉譜症候群』的病童，其中兩位伴有先天性心臟病，由于此症侯群有先天性心臟病之案例，在國內尚未有人提出，故在此報告。此二位病童之面部與手部皆表現出特异性，其眉毛、睫毛、眼瞼、鼻尖均符合此症侯群之特色，同時有粗短的手指及指端的肉墊。與1981年最初提出之文獻中所列出的32項特徵相對照，第一位病童具有17項特徵，第二位病童則有10項特徵，且第一位病童同時伴有三尖瓣及僧帽瓣之疾患，第二位病童則患有心室中隔缺損與開放性動脉導管。據估計，日本每32000位新生兒中,即有一位患有此症侯群,我國與日本同為亞洲的黃種人,相信國內發生率，一定比現有為多。由于伴發先天性心臟病的比例很高，故當我們發現患有此症侯群的病人時，應對其心臟做進一步的檢查。

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並列摘要

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 a 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.

並列關鍵字

Kabuki make-up syndrome ； Niikawa-Kuroki syndrome ； congenital heart disease

國際替代計量

Kabuki Make-Up Syndrome Associated with Congenital Heart Disease

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