A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection  

作　　者：Xiu-Wen Wang Ling-Yun Lu Ying Xie Xi-Jie Yu 

机构地区：[1]Department of Endocrinology and Metabolism,Laboratory of Endocrinology and Metabolism,Rare disease Center,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China [2]Department of Integrated Traditional Chinese and Western Medicine,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China

出　　处：《Chinese Medical Journal》2020年第16期2009-2011,共3页中华医学杂志（英文版）

基　　金：Supported by grants from the National Natural Science Foundation of China(No.81770875);the Science and Technology Department of Sichuan Province(No.2018SZ0142);the Sichuan University(No.2018SCUH0093);the National Clinical Research Center for Geriatrics of West China Hospital(No.Z2018B05);the 1.3.5 Project for Disciplines of Excellence,West China Hospital,Sichuan University(No.2020HXFH008,No.ZYJC18003).

摘　　要：To the Editor:A 15-year-old girl from Chengdu(Sichuan province,China)came to our hospital in December 2019.Hermother stated that the girl’s bodywas thin since she was 3 years old,but no other abnormalities were noted.She visited the hospital because of developing tinnitus and hearing loss over the last 5 months.On admission,it was found that she had low subcutaneous fat and particular facial features,including small jaw,thin lips,mandibular dysplasia,and crowded teeth[Figure 1].Her heightwas 1.50 m,and the body mass index(BMI)was 13.3 kg/m^2.

关 键 词：Figure stated FEATURES 

分 类 号：R725.9[医药卫生—儿科]