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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]
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
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 ...
Cherubism has also been found combined with other genetic disorders including Noonan syndrome, Ramon syndrome, and fragile X syndrome. [8] Mutations of the SH3BP2 gene are only reported in 75% of Cherubism cases. [3] The mutation of the SH3BP2 gene is believed to increase production of over active proteins from this gene.
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 .
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Pierre Robin sequence [a] (/ p j ɛər r ɔː ˈ b æ̃ /; [3] abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities.The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway.
Peter Marshall, best known as the original host of The Hollywood Squares, has died.He was 98. Marshall died on Thursday, Aug. 15 of kidney failure at his home in Encino, Calif., his publicist ...