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Weaver syndrome in a 16-year-old child (clinical case description)

Abstract

In their practice, pediatricians often observes patients with significant disorders in their physical development. In most cases, these changes are related to dwarfism and quite often conditioned by hereditary factors. But special attention should be paid to children with high anthropometric parameters. The article presents a case of own observation of extremely rare combination of tallness and congenital disorders in development – Weaver syndrome in a 16-year-old adolescent. 

About the Authors

T. A. Bokova
ГБУЗ МО МОНИКИ им. М. Ф. Владимирского
Россия


D. A. Kartashova
ГБУЗ МО МОНИКИ им. М. Ф. Владимирского
Россия


Yu. Yu. Kotalevskaya
ГБУЗ МО МОНИКИ им. М. Ф. Владимирского
Россия


References

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4. Douglas J. et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes // Am J Hum Genet. 2003, Jan; 72 (1): 132–143.

5. Gibson, W. T., Hood R. L. et al. Mutations in EZH2 cause Weaver syndrome // Am. J. Hum. Genet. 2012, 90: 110–118.

6. Качанов Д. Ю., Шаманская Т. В., Шевцов Д. В. и др. Генетическая предрасположенность к нейробластоме у детей: собственные данные и обзор литературы // Онкопедиатрия. 2016; 3 (4): 277–287.

7. Chase A., Cross N. C. Aberrations of EZH2 in cancer // Clin Cancer Res. 2011, May 1; 17 (9): 2613–2618.


Review

For citations:


Bokova T.A., Kartashova D.A., Kotalevskaya Yu.Yu. Weaver syndrome in a 16-year-old child (clinical case description). Lechaschi Vrach. 2019;(1):12. (In Russ.)

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ISSN 1560-5175 (Print)
ISSN 2687-1181 (Online)