Kabuki Syndrome: Case Report

• Autor(a) principal: Santos, Fernanda Correia
• Data de Publicação: 2009
• Outros Autores: Moraes, Sylvia Regina de Souza, Barbosa, Martha Verônica Câmara
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista Científica da Faculdade de Medicina de Campos
• Texto Completo: https://www.fmc.br/ojs/index.php/RCFMC/article/view/127
• topic: Síndrome de Kabuki (SK); anormalidades faciais; retardo no desnvolvimento neuropsicomotor; Kabuki syndrome (KS); facial abnormalities; delayed neuropsychomotor development

lntroduction: Kabuki syndrome (KS) is a rare congenital anomaly first described in Japan in 1981 by Niikawa Medical & Kuroki. lt is characterized by "Pentade of Niikawa": typical  facies, mild to moderate menta l retardation, retardation of postnatal development  skeletal anomalies and dermatoglyphic alterations.Objective: To report a case of Kabuki syndrome.Method: Review of medical records.Case report: A 4 year-old boy, monitoring since 3 years old, was brought for evaluation for the first time in HEAA with complaint of aggression, irritab ility  frequent crying, and self-mutilation. History of neuropsychomotor retardation. On physical examination we found several morphological alterations that characterize SK. Your follow up is being conducted by a multidisciplinary team.Conclusion: The disclosure of a case of SK is important for spread of this knowledge and for identification  of  new cases. There is no laboratorial test for diagnosis that is supported by morphological characteristics.