A Chinese girl with Turner syndrome and Duchenne muscular dystrophy: diagnosis and management of this "dual diagnosis"  

作　　者：Jia-Jia Chen Bing-Yan Cao Chang Su Min Liu Di Wu Wen-Jing Li Chun-Xiu Gong 

机构地区：[1]Department of Endocrinology,Genetics and Metabolism,Beijing Children's Hospital,Capital Medical University,National Centre for Children’s Health,Beijing 100045,China

出　　处：《Chinese Medical Journal》2021年第6期743-745,共3页中华医学杂志（英文版）

基　　金：GenSci Research Fund for young and middle-aged Pediatric Endocrinologist(No.2-3-1-1-06)。

摘　　要：To the Editor:The coincidence of Turner syndrome(TS)and Duchenne muscular dystrophy(DMD)is extremely rare,although each is familiar as a sex chromosome aneuploidy and neuromuscular disorders.We report a Chinese girl with TS and DMD with a review of seven cases reported in the literature.A 9-year-old girl from Hebei province was referred for short stature,muscle weakness and waddling gait.She tired easily,was unable to jump,had difficulty arising up from the squatting position and climbing stairs.She was born with healthy non-consanguineous parents.Her mother was 150 cm and maternal grandmother 149 cm of height.Short stature was present since the age of 3 years,which was thought to be"familial short stature"at the age of 4.75 years with the height of 91.8 cm(-4.21 standard deviation[SD]).

关 键 词：TURNER DIAGNOSIS MOTHER 

分 类 号：R746.2[医药卫生—神经病学与精神病学]