Rubinstein-Taybi syndrome in the practice of children’s neurologist

Синдром Рубинштейна-Тейби в практике детского невропатолога
Yevgen Lisovskyy 1, Kenzhe Kussainova 1, Aida Raissova 2, Meiramgul Kenzhebekova 2, Galymzhan Zhylkybaev 2
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1 «Republican Children’s Rehabilitation Centre» JSC, Department of Science and Education, Astana, Kazakhstan
2 «Republican Children’s Rehabilitation Centre» JSC, Neuropsychiatric Department, Astana, Kazakhstan
J CLIN MED KAZ, Volume 2, Issue 36, pp. 39-43.
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ABSTRACT

The clinical case of Rubinstein-Taybi syndrome was observed in psychoneurological department of Republican Children’s Rehabilitation Center. The syndrome was passing behind a mask of the atonic-astatic form of children’s cerebral palsy. The main signs of this syndrome are the following: stagnation of patients in psychomotor and speech development, craniofacial dismorfism, anomalies in development of fingers. Different symptoms of other organs and systems lesion were described basing on the literature review. Data of genetic researches concerning Rubinstein-Taybi syndrome are submitted.
Keywords: Rubinstein-Taybi syndrome, monogenic diseases, mental retardation

CITATION

Lisovskyy Y, Kussainova K, Raissova A, Kenzhebekova M, Zhylkybaev G. Rubinstein-Taybi syndrome in the practice of children’s neurologist. Journal of Clinical Medicine of Kazakhstan. 2015;2(36):39-43.

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