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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. [1]
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 .
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
Download as PDF; Printable version; In other projects ... It is a feature of Turner syndrome [1] (only found in girls) and Noonan syndrome, [2] ...
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 (Chromosome 13) Pre ...
"Noonan syndrome does not seem to impair an individual’s overall quality of life [4]. The majority of those with Noonan syndrome can expect to lead normal lives, however periodic follow up and lifelong monitoring of abnormalities found in any system, especially the cardiovascular system, is recommended [5] [6].
"A Certain Idea of America: Selected Writings" by Peggy Noonan (Portfolio), in Hardcover, eBook and Audio formats, available November 19Peggy Noonan, Wall Street Journal Extended interview: Cher
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 ...