PERINATOLOGIYA I PEDIATRIYA.2014.1(57):59-67; doi 10.15574/PP.2014.57.59

Rubinstein-Taybi syndrome in pediatric neurology

Shevchenko A. A.

SI “Institute of Pediatrics, Obstetrics and Gynecology of the National Academy of Medical Sciences of Ukraine”, Kiev

In this article present the basic information about a rare congenital multisystem genetic pathology-Rubintein-Taybi syndrome. The mandatory component of syndrome is a severe lesion of the central nervous system and the progressive character of mental retardation. It was considered the modern clinical, diagnostic, neurological and genetic aspects of this syndrome. There were described clinical case of the patient with this pathology during examination and treatment in the department of children”s psychoneurology of the Institute of Pediatrics, Obstetrics and Gynecology National academy of medical sciences of Ukraine.

Key words: Rubinstein-Teybi syndrome, clinic, diagnostics, prenatal diagnostics.

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