A síndrome da máscara do Cabúqui

Abstract

 

The authors present an original case, the first in Brazil and Latin America, of the Kabuki make-up syndrome. To diagnose KMS, the authors point out the importance of the -Pentad of Niikawa-, a term created by them to indicate the five basic features of the syndrome. Also new symptoms and signs which might be part of the phenotype of KMS are described. The authors emphasize that studies concerning KMS be widely spread, in order to identify new cases.