摘要
Noonan综合征是一类多器官系统受累的遗传性疾病,主要临床特征为特殊面容、先天性心脏病、身材矮小、发育迟缓、凝血功能障碍等。该文报道1例罕见的以小睑裂畸形为主诉就诊于吉林大学第一医院整形外科的Noonan综合征患儿,后经DAN全外基因测序,明确患儿存在PTPN11基因c.1517C>T错义突变。
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features,congenital heart disease,short stature,developmental delay,and bleeding diculties.This paper reports a rare Noonan syndrome child who presented chiefly to our institution with severe blepharophimosis.After DAN whole exome sequencing analysis,the patient was diagnosed with the PTPN11 gene c.1517C>T mutation.
作者
王家琪
张舵
刘海鹏
Wang Jiaqi;Zhang Duo;Liu Haipeng(Department of Plastic and Reconstructive Surgery,The First Hospital of Jilin University,Changchun 130021,China)
出处
《中华整形外科杂志》
CAS
CSCD
北大核心
2020年第1期80-82,共3页
Chinese Journal of Plastic Surgery
