目的 探讨儿童矮小症的遗传学病因。方法 选取2017年1月—2020年10月因生长缓慢就诊的矮小症患儿为研究对象。行矮小相关基因的全外显子测序,对发现的可能的染色体片段拷贝数变异者进一步完善基因芯片检查,比较基因检测阳性与阴性组之间临床表型差异。结果 共纳入186例矮小症患儿,中位年龄7.3（5.1~9.1）岁,男103例、女83例。共检测出69例阳性结果,阳性检出率37.1%。其中54例通过全外显子基因测序诊断,15例通过染色体微阵列分析诊断。二元logistic回归分析显示,特殊面容和骨骼发育异常是儿童矮小症基因检测结果阳性发生的预测因素（P均<0.05）。结论 全外显子测序是检测儿童矮小症遗传病因的有效技术手段,伴有特殊面容和/或骨骼发育异常的患儿更可能检测到遗传病因。

Objective To explore the genetic etiology of short stature in children. Methods This study selected children with short stature who were treated for growth disorder from January 2017 to October 2020. The whole exome sequencing (WES) was performed to identify potential genetic etiologies, and the possible copy number variants of chromosome fragments were further improved by chromosomal microarray analysis (CMA), and the clinical phenotypic differences between gene test positive and negative groups were compared. Results A total of 186 children with short stature were included, with a median age of 7.3 (5.1-9.1) years, including 103 boys and 83 girls. A total of 69 cases of positive results were detected, with a positive rate of 37.1%. Fifty-four were tested by WES and 15 by CMA. Binary logistic regression analysis showed facial dysmorphism or skeletal abnormalities were predictors of positive gene detection results in children with short stature (all P<0.05). Conclusion Whole exome sequencing is an effective technique to detect the genetic etiology of short stature in children, and Patients with facial dysmorphism and/or skeletal abnormalities are more likely to have a known genetic etiology.