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Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.
Clin Dysmorphol. 1992 Apr; 1(2):63-77.CD

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 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.

Authors+Show Affiliations

Centre de Génétique Médicale and INSERM U 242, Marseille, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

1285376

Citation

Philip, N, et al. "Kabuki Make-up (Niikawa-Kuroki) Syndrome: a Study of 16 non-Japanese Cases." Clinical Dysmorphology, vol. 1, no. 2, 1992, pp. 63-77.
Philip N, Meinecke P, David A, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. Clin Dysmorphol. 1992;1(2):63-77.
Philip, N., Meinecke, P., David, A., Dean, J., Ayme, S., Clark, R., Gross-Kieselstein, E., Hosenfeld, D., Moncla, A., & Muller, D. (1992). Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. Clinical Dysmorphology, 1(2), 63-77.
Philip N, et al. Kabuki Make-up (Niikawa-Kuroki) Syndrome: a Study of 16 non-Japanese Cases. Clin Dysmorphol. 1992;1(2):63-77. PubMed PMID: 1285376.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. A1 - Philip,N, AU - Meinecke,P, AU - David,A, AU - Dean,J, AU - Ayme,S, AU - Clark,R, AU - Gross-Kieselstein,E, AU - Hosenfeld,D, AU - Moncla,A, AU - Muller,D, PY - 1992/4/1/pubmed PY - 1992/4/1/medline PY - 1992/4/1/entrez SP - 63 EP - 77 JF - Clinical dysmorphology JO - Clin Dysmorphol VL - 1 IS - 2 N2 - 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. SN - 0962-8827 UR - https://www.unboundmedicine.com/medline/citation/1285376/Kabuki_make_up__Niikawa_Kuroki__syndrome:_a_study_of_16_non_Japanese_cases_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=1285376.ui DB - PRIME DP - Unbound Medicine ER -