Kabuki syndrome. Presentation of a case

Kabuki syndrome was first described in 1981 by authors Niikawa and Kuroki. It was initially described in Japanese, but more and more cases are being diagnosed both inside and outside Japan. The purpose of this paper is to present a sporadic case with no family relationship of a child with Kabuki syndrome, a low frequency picture in our service. To our knowledge it would be the second case published in Ecuador. Emphasis is made on the polymalformative findings and especially the unique facial aspect, referred to in the current literature. Genetically it was impossible for us to perform a specific study for diagnosis, so we rely on the established phenotypic criteria, especially the facial and ophthalmologic manifestations, the latter being present in 100% of the cases. It is important to promote awareness of this syndrome in order to reach an early diagnosis and offer a better life expectancy.