Sindrome de noonan pdf

Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. This presentation on noonan syndrome was developed for dr. Noonan syndrome ns is a genetic disorder that may present with mildly unusual facial features, short height, congenital heart disease, bleeding problems, and skeletal malformations. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and. Facial features include widely spaced eyes, lightcolored eyes, lowset ears, a short neck, and a small lower jaw. John opitz proposed that noonans syndrome be given the name because dr.

Noonan syndrome ns is a relatively common congenital disease that affects both males and females equally. Quiste aracnoideo espinal intradural relacionado con. Noonan syndrome is a relatively common, clinically variable developmental disorder. Santome, liliana galbis, begona ezquieta laboratorio diagnostico molecular. Lee ann jungs iec 509 class on intervention planning for children with special needs at the university of kentucky. Noonan syndrome can be inherited from a parent who has an affected gene or can result from a spontaneous gene mutation in a child whose parents have unaffected genes. Heart problems may include pulmonary valve stenosis. The purpose of this study was to determine the frequency of. Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. All structured data from the file and property namespaces is available under the creative commons cc0 license. Most affected individuals have characteristic facial. Descrito por primera vez 1 en 1883 por kobylinski, y ampliando su estudio j. Noonan syndrome is a relative common autosomic dominant congenital disorder, with an incidence between 1.