- Genetic disorder
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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. Facial features include widely spaced eyes, light-colored eyes, low-set ears, a short neck, and a small lower jaw. Heart problems … 展开
The most common signs leading to the diagnosis of Noonan syndrome are unique facial characteristics and musculoskeletal features. The facial … 展开
Recurrence in siblings and apparent transmission from parent to child has long suggested a genetic defect with autosomal dominant inheritance … 展开
The lifespan of people with Noonan's syndrome can be similar to the general population, however, Noonan syndrome can be associated with … 展开
Jacqueline Noonan began practicing as a pediatric cardiologist in 1959 at the University of Iowa when she noticed that children with a rare type of heart defect, valvular pulmonary stenosis, … 展开
Diagnosing of NS is based on the clinical symptoms presented by the individual, accompanied by attempts to confirm the diagnosis through … 展开
There is no single treatment tailored to alleviate all possible symptoms of NS. Instead, the treatment varies depending on complications but tend to be quite standard, reflecting the … 展开
CC-BY-SA 许可证中的维基百科文本 Noonan Syndrome (Leopard Syndrome): Causes & Outlook
- Noonan syndrome occurs most often due to changes (mutations) in certain genes that help your body’s tissues grow and develop. These mutated genes produce proteins that are active longer than they should be. They interfere with proper cell growth and division. Noonan syndrome may be: 1. Inherited: One parent passesthe condition to a child. 2. Sponta...
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Noonan综合征 - 百度百科
Noonan综合征是一种先天性疾病，大多数病例为散发性，家族性患者为常染色体显性遗传，基因突变是基本的病因。 国外报道发病率为1/2500～1/1000活产儿。
Noonan syndrome | About the Disease | GARD - Genetic and Rare …
Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short …
Noonan Syndrome - StatPearls - NCBI Bookshelf
2023年1月9日 · Noonan syndrome is a pleomorphic autosomal dominant inherited disease. Thus, parents with Noonan syndrome have a 50% chance of passing the mutation on to their …
- 已发布: 2023/01/09
About Noonan Syndrome - National Human Genome …
2013年12月23日 · The diagnosis of Noonan syndrome is based on the person's clinical symptoms and signs. The specialist examines the person looking for the specific features of Noonan syndrome. Individuals who have Noonan …
Noonan syndrome - MedlinePlus
Most people with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is a narrowing of the valve that controls blood flow from the heart to the lungs (pulmonary valve …
努南综合征（Noonan）的前世今生 - 知乎 - 知乎专栏
大约据今60年之前，也就是1962年左右，一个叫Noonan的美国儿科医学博士在她的门诊中发现小孩群体中有这样一上群体：1）眼距宽、内眦赘皮、眼睑下垂并下斜，招风耳、双耳位置低，短颈、颈；2）身材矮、盾胸、鸡胸、…
Noonan Syndrome - Children's Hospital of Philadelphia
Noonan syndrome is a genetic disorder characterized by short stature, distinctive facial features, heart defects, bleeding problems and skeletal abnormalities. Most individuals with Noonan …
Understanding Noonan Syndrome
Noonan syndrome (NS) is a variably expressed, multisystem disorder with an estimated prevalence of 1 in 1,000 – 2,500 births. People with NS may experience bleeding issues, …
