出典:Wiktionary
出典:『Wiktionary』 (2015/03/21 23:49 UTC 版)
After Jacqueline Noonan, paediatric cardiologist.
出典:Wikipedia
出典:『Wikipedia』 (2011/07/09 13:05 UTC 版)
Noonan Syndrome (NS) is a relatively common autosomal dominant congenital disorder considered to be a type of dwarfism, that affects both males and females equally:550. It used to be referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features include congenital heart defect (typically pulmonary valve stenosis), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan.