At initial assessment, mild developmental delay was noted. Noonan syndrome was suspected. Echocardiography showed a small perimembranous VSD and nonobstructive HCM with mild mitral valve prolapse.

Noonan syndrome is a rare genetic disorder. If you have it, you might have certain identifiable facial features, short height, and unusual chest shape. You may also have heart defects. It can ...

Noonan syndrome is a genetic disorder that affects ... Normal cardiac function was restored after medication and treatment. An echocardiogram revealed a structurally normal heart with normal ...

IT affects around the same number of people as down syndrome. But as Angela Foley has discovered since her daughter, Zazzie, was diagnosed with Noonan Syndrome, relatively little is know about the ...

Noonan syndrome is a genetic condition that can cause differences in facial features and results in short stature. Patients with this syndrome frequently have cardiac issues such as irregular ...

Noonan syndrome is a genetic disorder that prevents normal development in the body. A person can be affected by Noonan syndrome in various ways such as with unusual facial characteristics ...

Worried, her parents took her to the emergency room. There doctors discovered that Maria, who at age 2 was diagnosed with Noonan syndrome, a genetic disorder that can lead to several health issues ...

Noonan syndrome is a genetic condition that affects around 1 in every 1,000–2,500 people. The signs and symptoms can vary greatly from person to person, so this condition may be underdiagnosed ...

Noonan syndrome is now known to be a genetically heterogeneous disorder with practically one half of all cases caused by gain-of-function mutations in PTPN11, the gene encoding the SHP-2.