作者
N Philip, P Meinecke, A David, J Dean, S Ayme, R Clark, E Gross-Kieselstein, D Hosenfeld, A Moncla, D Muller, M Porteous, H Santos, I Cordeiro, A Selicorni, M Silengo, G Tariverdian
发表日期
1992/4/1
期刊
Clinical dysmorphology
卷号
1
期号
2
页码范围
63-78
出版商
LWW
简介
Kabuki make-up (Niikawa-Kuroki) syndrome has been described mainly in Japanese patients. In this paper we report sixteen new cases from Europe and North America, suggesting that Kabuki make-up syndrome may be more common outside of Japan than supposed. Their features are compared with those of the Japanese patients and most of our findings are similar to those previously reported. The facial phenotype is specific and easily recognizable, regardless of ethnic origin. Postnatal growth retardation and mild mental retardation are confirmed to be cardinal manifestations of the syndrome. Skeletal anomalies were present in ail cases but most of the radiological changes were non-specific. The specificity of metacarpophalangeal pattern profile is not confirmed. Conversely, dermatoglyphic analysis is helpful in the diagnosis of this condition. Two differences have emerged between the Japanese patients and …
引用总数
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