目的 探讨新生儿原发性先天性淋巴水肿的临床及基因变异特点。方法 回顾分析1例新生儿原发性先天 性淋巴水肿患儿的临床资料及基因检测结果，并进行相关文献复习。结果 男性患儿，足月顺产，产前即发现右侧胸腔积 液，生后发现合并心包积液、胸腔积液及双下肢水肿。基因检测发现FLT 4基因杂合变异，c. 3820 G>A（p.Asp 1274 Asn）， 该变异来自患儿父亲，患儿父亲出生后亦有双下肢水肿，后渐自愈。该变异位点目前尚无文献报道。结论 基因检测有助 于确诊新生儿原发性先天性淋巴水肿等先天性淋巴管发育障碍疾病。

Objective To explore the clinical characteristics and gene mutation of primary congenital lymphedema (PCL). Method The clinical data and gene test results from a PCL child and his parents were retrospectively analyzed and relevant literature were reviewed. Results The boy had a full-term natural birth. Right pleural effusion was found before and after birth, accompanied by pericardial effusion, pleural effusion and edema of lower limbs. A novel heterozygous mutation of c. 3820 G > A (p.Asp 1274 Asn) inherited from his father was found in FLT 4 gene by gene detection. His father also had edema in both lower limbs after birth, which was gradually self-healing. Conclusion For children with congenital edema, it is necessary to pay attention to the family history and genetic testing could be performed to find the PCL and other congenital lymphatic dysplasia of the newborn.