Gonzalez V, González CF, González MK

Language: Spanish
References: 9
Page:
PDF size: 119.07 Kb.

ABSTRACT

Noonan syndrome is the second disease, only preceded by Down´s syndrome associated with congenital heart disease. All patients with the syndrome require cardiac monitoring. It affects both males and females sexes and is distributed worldwide. It can be presented with dominant inheritance or also occur sporadically. The most common cause of this syndrome is given by mutations that occur in type 11 protein tyrosine phosphatase non-receptor gene. A patient of 15 years of age with a history of Noonan´s syndrome was presented in this article and later a mitral valve prolapse was detected.

REFERENCES

1. 1 Annerén G, Bondersen ML. Noonan syndrome. [citado 3 oct 2011]. Disponible en: http://www.socialstyrelsen.se/rarediseases/noonansyndrome

2. 2 Gil SA, García PA. Afectación cardíaca en otras enfermedades. Síndromes dismórficos de etiología imprecisa. Protocolos de cardiopediatría. [citado 30 sep 2011]. Disponible en: http://www.secardioped.org/Descargas/PyB/LP_cap15.pdf

3. 3 Ibrahim J. Noonan Syndrome. [citado 3 sep 2012]. Disponible en: http://www.emedicine.medscape.com/article/947504-overview

4. 4 Tartaglia M, Kalidas K, Shaw A. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002; 70(6):1555-63.

5. 5 Tartaglia M, Pennacchio LA, Zhao C. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007; 39(1):75-9.

6. 6 Goldmuntz E, Crenshaw ML, Lin AE. Genetic Aspects of Congenital Heart Defects. Heart Disease in Infants, Children, and Adolescents. Philadelphia: Moss & Adams' 2012. p.545-63

7. 7 Denayer Legius E. What’s new in the neuro-cardio-facial-cutaneous syndromes? Eur J Pediatr. 2007; 166:1091-8.

8. 8 Noonan JA. Noonan syndrome and related disorders.Rev Endocr Metab Disord. 2006; 7(4)20:251-5.

9. 9 Courtens W, Grossman D, Van Roy N, Messiaen L, Vamos E. Noonan like phenotype in monozygotic twins duplication deficiency of the long arm of chromosome 18 resulting from a maternal paracentric inversion. Hum Genet 1998; 103(4): 497-505.