Philip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D
Centre de Génétique Médicale and INSERM U 242, Marseille, France.
Clin Dysmorphol. 1992 Apr;1(2):63-77.
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 all 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 those in this study. Firstly, two-thirds of the patients in this series had significant neurological dysfunction other than mental retardation. Secondly, joint hypermobility appears more common in non-Japanese patients. Confirmation of these findings requires further studies.
歌舞伎综合征（丹川-黑木综合征）主要在日本患者中被描述。在本文中，我们报告了来自欧洲和北美的16例新病例，这表明歌舞伎综合征在日本以外地区可能比预想的更为常见。我们将这些病例的特征与日本患者的特征进行了比较，并且我们的大多数发现与先前报道的相似。无论种族出身如何，面部表型都是特定的且易于识别。出生后生长发育迟缓以及轻度智力障碍被确认为该综合征的主要表现。所有病例均存在骨骼异常，但大多数放射学改变不具有特异性。掌指纹型轮廓的特异性未得到证实。相反，皮纹分析有助于诊断这种疾病。日本患者与本研究中的患者之间出现了两点差异。首先，在本系列中，三分之二的患者除智力障碍外还存在明显的神经功能障碍。其次，关节活动过度在非日本患者中似乎更为常见。这些发现需要进一步研究来证实。
