Zespół Noonan u 8-letniej pacjentki – opis przypadku = 8 - year - old patient with Noonan syndrome - case report

Aleksandra Grabiec, Aleksandra Szczepkowska, Piotr Osica, Anna Janas-Naze

Abstract


Grabiec Aleksandra, Szczepkowska Aleksandra, Osica Piotr, Janas‑Naze Anna. Zespół Noonan u 8-letniej pacjentki – opis przypadku = 8 - year - old patient with Noonan syndrome - case report. Journal of Education, Health and Sport. 2016;6(12):575-581. eISSN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.216473

http://ojs.ukw.edu.pl/index.php/johs/article/view/4101

 

 

 

 

The journal has had 7 points in Ministry of Science and Higher Education parametric evaluation. Part B item 754 (09.12.2016).

754 Journal of Education, Health and Sport eISSN 2391-8306 7

© The Author (s) 2016;

This article is published with open access at Licensee Open Journal Systems of Kazimierz Wielki University in Bydgoszcz, Poland

Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium,

provided the original author(s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License

(http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited.

This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial

use, distribution and reproduction in any medium, provided the work is properly cited.

The authors declare that there is no conflict of interests regarding the publication of this paper.

Received: 01.12.2016. Revised 12.12.2016. Accepted: 20.12.2016.

 

 

 

Zespół Noonan u 8-letniej pacjentki – opis przypadku

8 - year - old patient with Noonan syndrome - case report

 

Aleksandra Grabiec1, Aleksandra Szczepkowska2, Piotr Osica2, Anna Janas‑Naze2

 

1 Studenckie Koło Naukowe przy Zakładzie Chirurgii Stomatologicznej Uniwersytetu Medycznego w Łodzi

 

2 Zakład Chirurgii Stomatologicznej UM w Łodzi

Kierownik: dr hab. n. med. prof. nadzw. Anna Janas-Naze

 

 

 

 

 

 

 

Adres do korespondencji:

Aleksandra Szczepkowska

Zakład Chirurgii Stomatologicznej UM w Łodzi

92-213 Łódź, ul. Pomorska 251

e-mail: aleksandra.szczepkowska@gmail.com

tel. 42 675 75 71

 

 

 

 

 

Praca finansowana przez Uniwersytet Medyczny w Łodzi w ramach działalności statutowej nr 503/2-163-01/503-21-001

 

 

 

Streszczenie: W poniższej pracy opisano przypadek zespołu Noonan u 8- letniej dziewczynki.

 

Słowa kluczowe: zespół Noonan, rzadkie choroby genetyczne, znieczulenia ogólne

 

 

Abstract: The article presents the case of 7 year old girl with Noonan syndrome.

 

Key words: Noonan syndrome, rare genetic diseases, general anesthesia


Keywords


zespół Noonan; rzadkie choroby genetyczne; znieczulenia ogólne; Noonan syndrome; rare genetic diseases; general anesthesia.

Full Text:

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References


Noonan J.A., Ehmke D.A.: Associated noncardiac malformations in children with congenital heart disease, J Pediatr., 1963, 31, s. 150-153.

Noonan J.A.: Noonan syndrome and related disorders: Alterations in growth and puberty, Rev Endocr Metab Disord., 2006, 7(4), s. 251- 255.

Sharland M., Morgan M., Smith G.: Genetic counseling in Noonan syndrome, Am J Did Child., 1993, 45, s.437-440.

Tartaglia M. i wsp.: PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity, Am J Hum Genet., 2002, 70, s. 1555-1563.

Yoshida R. i wsp.: Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome, J Clin Endocrinol Metab., 2004, 89(7), s. 3359 –3364.

Zenker M. i wsp.: Genotype-phenotype correlations in Noonan syndrome, J Pediatr., 2004, 144(3), s. 368 –374.

Ko J.M. i wsp.: PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome, J Hum Genet, 2008, 53(11–12), s. 999 –1006.

Tartaglia M. i wsp.: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome, Nat Genet, 2007, 39(1), s. 75–79.

Sharland M., Morgan M., Smith G.: Genetic counseling in Noonan syndrome, Am J Med Genet, 1993, 45, s. 437-440.

Nelson J.F., Tsaknis P.J., Konzelman J.L.: Noonan’s syndrome: report of a case with oral findings, J Oral Med, 1978, 33, s. 94-96.

Shaw A.C. i wsp.: The natural history of Noonan syndrome: a long-term follow-up study, Arch Dis Child, 2007, 92(2), s. 128 –132.

Nora J.J. i wsp.: The Ullrich-Noonan syndrome (Turner phenotype), Am J Dis Child, 1974, 127(1), s. 48 –55.

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DOI: http://dx.doi.org/10.5281/zenodo.216473

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