Resumo

OSORIO ALARCON, Carlos; OLAYA MANTILLA, Diego; SILVERA REDONDO, Carlos  e  GARAVITO GALOFRE, Pilar. Kabuki Syndrome: A case report and literature review. Salud, Barranquilla [online]. 2016, vol.32, n.3, pp.565-575. ISSN 0120-5552.

Abstract Kabuki syndrome is a rare disease described by Kuroki and Niikawa in Japanese population in 1981. There are over 400 cases over the world and 5 cases described in Colombian population. Therefore this is the 6th Kabuki syndrome found in Colombia. We report a 2 years old female with Kabuki syndrome phenotype. Clinical examination showed: long palpebral fissures with eversion of the lateral third of the lower eyelids, a broad and depressed nasal tip, left palate and low setup ears. Kabuki syndrome includes facial features whit specific characteristics enough to classify the patients. However, there are some mutations in MLL2 gene present in almost 75 % of Kabuki syndrome. In addition there are some deletion and duplications abnormalities in KMD6A gene described in Kabuki syndrome patients.

Palavras-chave : Kabuki; craniofacial anomalies; MLL2; KDM6A; Colombia.

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