Resumen

FERNANDEZ PEREZ, Gloria Elena et al. Presentation of a Patient with Kabuki Syndrome. CCM [online]. 2014, vol.18, n.4, pp.752-758. ISSN 1560-4381.

Kabuki syndrome is a rare disease of genetic origin, characterized by varying degrees of intellectual disability, quirky facie and multiple congenital anomalies. It was described in Japan in 1981 by Niikawa and Kuroki; is initially conceived as unique to that country, where an estimated frequency is 1/32000. At present there have been reports from other latitudes. There is a wide spectrum of congenital problems associated with Kabuki syndrome, with big differences between them and other individuals. Some of the most common problems are heart defects (30 %), urinary tract abnormalities, hearing loss (50 %), hypotonia, and postnatal growth deficiency (83 %). In this work, a three -year- old boy, who lives in the Gibara municipality and presented the main signs described for this condition was presented. Being a newly described disease, its clinical delineation is important for genetic counseling for preventive purposes.

Palabras clave : Kabuki syndrome; dysmorphology; genetic counseling; prevention.

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