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A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema

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vulva. Then she was taken to my hospital for further To the Editor: Noonan syndrome (NS) is a common genetic multisystem disorder caused by aberrant signal flux treatment. She had… Click to show full abstract

vulva. Then she was taken to my hospital for further To the Editor: Noonan syndrome (NS) is a common genetic multisystem disorder caused by aberrant signal flux treatment. She had a heart operation when she was 1 year through mitogen-activated protein kinase (Ras-MAPK) and has an estimated prevalence of 1 in 1000–2500. It was characterized by Jacqueline Noonan, who reported nine patients with pulmonary valve stenosis, small stature, hypertelorism, mild intellectual disability, webbed neck, undescended testes, and skeletal malformations. The lymphatic disorders are rare, it can happen at any age but most instances happen at birth, which are known to be particularly associated with NS, though it has not been well characterized to date. Gene mutations identified in individuals with the NS, regulate impertinently the Ras/ MAPK signal transduction pathway and they can currently explain 70% of the NS cases. Therefore, it is very important for genetic counseling and life management. Here, we reported a rare Noonan syndrome 9 patient in Asian with significant, persistent and progressive bilateral lower limb dysplasia.

Keywords: presenting bilateral; report girl; noonan syndrome; syndrome presenting; girl noonan; bilateral lower

Journal Title: Chinese Medical Journal
Year Published: 2019

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