Noonan Syndrome 2019
DOI: 10.1016/b978-0-12-815348-2.00001-3
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Growth Failure and Experience With Growth Hormone Therapy in Noonan Syndrome

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2021
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(2 citation statements)
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“…The mutation of this gene alters RAS-mitogen activated protein kinase (MAPK) pathway, thereby affecting extracellular ligands like growth factors, cytokines, and hormones on their cellular functions. 9 Van der Burg et al 10 developed a scoring system where presence of one major/ two minor and two major/ one minor sign is required for the diagnosis of Noonan syndrome (Table 2). In the present case, patients birth record revelaved normal height and weight, but his growth pattern had decreased to the 3 rd percentile over years which in consistent with the findings of Athota et al 11 and Kouz et al 12 The distinguishing features evident in this case include, short stature, chest deformity, congenital cardiac abnormalities, hypertelorism, ptosis, facial deformity, low set ears, deep grooved philtrum and low posterior hair line.…”
Section: Discussionmentioning
confidence: 99%
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“…The mutation of this gene alters RAS-mitogen activated protein kinase (MAPK) pathway, thereby affecting extracellular ligands like growth factors, cytokines, and hormones on their cellular functions. 9 Van der Burg et al 10 developed a scoring system where presence of one major/ two minor and two major/ one minor sign is required for the diagnosis of Noonan syndrome (Table 2). In the present case, patients birth record revelaved normal height and weight, but his growth pattern had decreased to the 3 rd percentile over years which in consistent with the findings of Athota et al 11 and Kouz et al 12 The distinguishing features evident in this case include, short stature, chest deformity, congenital cardiac abnormalities, hypertelorism, ptosis, facial deformity, low set ears, deep grooved philtrum and low posterior hair line.…”
Section: Discussionmentioning
confidence: 99%
“…In general, the growth pattern of these patients is attenuated during puberty and their final adult height is also below the normal range. 9 Literature shows a general developmental delay in the mean age of motor milestones, including cognitive issues and learning disabilities. 1,13 Same with the current case, patient was able to stand without support and walk only by age three, while ability to speak and respond to questions was attained only around five years of age.…”
Section: Discussionmentioning
confidence: 99%