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

作　　者：Yuan Ding Xu-Yun Hu Yan-Ning Song Bing-Yan Cao Xue-Jun Liang Hong-Dou Li Xin Fan Shao-Ke Chert Yi-Ping SHen Chun-Xiu Gong 

机构地区：[1]Department of Endocrinology,Genetics,Metabolism,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China [2]Department of Genetics and Metabolism,Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region,Birth Defects Prevention and Control Institute of Guangx Zhuang Autonomous Region,Nanning,Guangxi 530003,China [3]Shanghai Children's Medical Center,Shanghai Jiao Tong University School of Medicine,Shanghai 200240,China [4]Division of Genetics and Genomics,Boston Children's Hospital,Boston,MA 02115,USA [5]Department of Neurology,Haward Medical School,Boston,MA 02138,USA.

出　　处：《Chinese Medical Journal》2019年第4期480-482,共3页中华医学杂志（英文版）

摘　　要：To the Editor:Noonan syndrome (NS)is a common genetic multisystem disorder caused by aberrant signal flux through mitogen-activated protein kinase (Ras-MAPK) and has an estimated prevalence of 1 in 1000-2500[1]. 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[2], 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.[2] Here,we reported a rare Noonan syndrome 9 patient in Asian with significant,persistent and progressive bilateral lower limb dysplasia.

关 键 词：Noonan syndrome LIMBS LYMPHEDEMA EDITOR 

分 类 号：R[医药卫生]