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Syndrome of Cornelia de Lange

https://doi.org/10.21886/2219-8075-2018-9-2-110-115

Abstract

Th e article is devoted to rare syndrome of uncertain course of succession. Describes the etiology, phenotypic characteristics, symptoms, based on which a pediatrician and geneticist may suspect the Amsterdam dwarfi sm. Principles of treatment summarize the general. Clinical observation of the child R. 16 years old with multiple organ failure was conducted.

About the Authors

O. A. Buhayenko
Lugansk State Medical University.
Ukraine
Oksana A. Buhayenko – PhD, assistant professor, Department of Pediatrics, Faculty of Postgraduate Education. Lugansk.


T. A. Sirotchenko
Lugansk State Medical University.

Tamara A. Sirotchenko - MD, professor, pediatrics department of the Faculty of Postgraduate Education.

Lugansk.



G. G. Bondarenko
Lugansk State Medical University.

Galina G. Bondarenko - PhD, associate professor, Department of Pediatrics, Faculty of Postgraduate Education.

Lugansk.



M. M. Velkovchenko
Lugansk Republican Children’s Clinical Hospital.

Marina M. Velkovskaya – doctor, Lugansk Republican Children’s Clinical Hospital.

Lugansk.



References

1. Kozlova SI, Demikova NS. Hereditary syndromes and medical genetic counseling. Moscow: KMK, Author’s Academy; 2007. (in Russ.)

2. Barashnev YuI, Bakharev VP, Novikov PV. Diagnosis and treatment of congenital and hereditary diseases in children (a guide to clinical genetics). Moscow: “Triad-X”; 2004. (in Russ.)

3. Ginter EK. Medical Genetics. Moscow: Medicine; 2003. (in Russ.)

4. Zhimulev IF. General and molecular genetics. Novosibirsk: Sib. univ. publishing house; 2002. (in Russ.)

5. Borodulin VI, Topolyansky AV. Syndromes and symptoms in clinical practice: an eponymic dictionary-reference. Moscow: Eksmo; 2009. (in Russ.)

6. Berney TP, Ireland M, Burn J. Behavioral phenotype of Cornelia de Lange syndrome. Arch. Dis. Child. 1999;81:333336.

7. Deardorff MA, Krantz ID. Cornelia de Lange Syndrome. In: Encyclopedia of Neuroscience. 2009. doi: org/10.1016/b978008045046-9.01491-1.

8. Badoe EV. Classical Cornelia de Lange syndrome. Ghana Medical Journal. 2010;40(3):148-150

9. Mundlos S, Horn D. Cornelia de Lange Syndrome. In: Limb Malformations. 2014. doi: org/10.1007/978-3-540-959281_85.

10. Belozerov YuM. Pediatric cardiology (hereditary syndromes). Elista: CJSC “NPP” Dzhangar”; 2008. (in Russ.)


Review

For citations:


Buhayenko O.A., Sirotchenko T.A., Bondarenko G.G., Velkovchenko M.M. Syndrome of Cornelia de Lange. Medical Herald of the South of Russia. 2018;9(2):110-115. (In Russ.) https://doi.org/10.21886/2219-8075-2018-9-2-110-115

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ISSN 2219-8075 (Print)
ISSN 2618-7876 (Online)