Kabuki Syndrome: a case report with severe ocular abnormalities

• Autor(a) principal: Medina,Flavio Mac Cord
• Data de Publicação: 2013
• Outros Autores: Rodriguez,Pamela, Cabral,Renata Tavares de Souza, Castro,Marcia Brazuna de, Llerena Junior,Juan Clinton, Japiassú,Ricardo Miguel
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista Brasileira de Oftalmologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802013000500013
• topic: Congenital disorders; Coloboma; Glaucoma; Strabismus; Case reports

Kabuki syndrome is a rare congenital anomaly, characterized by five fundamental features, the "Pentad of Niikawa": dysmorphic facies, skeletal anomalies, dermatoglyphic abnormalities, mild to moderate mental retardation and postnatal growth deficiency. Patients present characteristic external ocular features, nonetheless they may also present significant ocular abnormalities. We report a case of a brazilian child diagnosed with Kabuki syndrome, addressing the clinical features observed, with emphasis on the ocular manifestations. This case highlights the existence of this syndrome and all of its complexity. The identification of preventable causes of loss of vision underlines the value of detailed ophthalmologic examination of Kabuki syndrome patients.