Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

TitleKabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.
Publication TypeJournal Article
Year of Publication1992
AuthorsPhilip N, Meinecke P, David A, Dean J, Ayme S, Clark R, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D
JournalClinical dysmorphology
Volume1
Issue2
Pagination63-77
Date Published1992 Apr
Abstract

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 phenotypei is specific and easily recognizable, regardless of ethnic origin. Postnatal growth retardation and mild mental retardation are confirmed to be cardinali manifestations of the syndrome. Skeletal anomalies were present in all cases but most of the radiological changes were non-specific. The specificity of metacarpophalangeali 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.

Alternate JournalClin. Dysmorphol.
Citation Key1285376