Search results
Results from the WOW.Com Content Network
Dr. John Opitz, a former student of Noonan's, first began to call the condition "Noonan syndrome" when he saw children who looked like those whom Dr. Noonan had described. Noonan produced a paper titled "Hypertelorism with Turner Phenotype" in 1968 where she studied 19 patients who displayed symptoms indicative of Noonan's Syndrome. [ 47 ]
Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, [2] is a rare autosomal dominant, [3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene . The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular ...
Capillary malformation-AV malformation syndrome (CV-AVM) Cardiofaciocutaneous syndrome (CFC) Neurofibromatosis type I (NF1) Noonan syndrome (NS) Costello syndrome (CS) Legius syndrome, also known as NF1-like syndrome; Noonan syndrome with multiple lentigines (NSML), formerly called LEOPARD syndrome; SYNGAP1-related intellectual disability
Jacqueline Anne Noonan (October 28, 1928 – July 23, 2020) was an American pediatric cardiologist best known for her characterization of a genetic disorder now called Noonan syndrome. [ 1 ] [ 2 ] She was also the original describer of hypoplastic left heart syndrome .
Long QT syndrome: Lutembacher's syndrome: Malpuech facial clefting syndrome: Marden–Walker syndrome: Marfan syndrome: McKusick–Kaufman syndrome: McLeod syndrome: Noonan syndrome: Noonan syndrome with multiple lentigines: Ortner's syndrome: Bouveret Hoffmann syndrome: another name for "Paroxysmal tachycardia" Patau syndrome: genetic ...
Main page; Contents; Current events; Random article; About Wikipedia; Contact us; Pages for logged out editors learn more
It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] as well as the rarer Klippel–Feil syndrome, [3] or Diamond–Blackfan anemia. [ 4 ] References
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...