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2014, Number 4

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Correo Científico Médico 2014; 18 (4)

Presentation of a patient with Kabuki syndrome

Fernández PGE, Santana HEE, Rodríguez EA, Oro MY, Silva FSB

Language: Spanish
References: 9
Page: 752-758
PDF size: 258.61 Kb.


ABSTRACT

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.


REFERENCES

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