目的:探讨新生儿毛细血管畸形（CM）-动静脉畸形（AVM）的临床特征和治疗方法。方法:回顾性总结1例2017年11月收入上海交通大学医学院附属上海儿童医学中心的RASA1基因变异型新生儿CM-AVM的临床资料。以“毛细血管畸形动静脉畸形”“新生儿”“RASA1基因”为关键词检索CNKI、万方数据，“capillary malformation-arteriovenous malformation”“neonatal”“RASA1 gene”为关键词检索生物医学文献（Pubmed）数据库（2009年1月1日至2018年12月31日），总结新生儿CM-AVM的临床特点。结果:患儿　男，1日龄，因“双下肢肿胀伴广泛皮温升高的红斑1 d”入院，患儿住院第3天（4日龄）出现急性心力衰竭。腹部增强CT和数字减影血管造影检查明确巨大椎管内动静脉瘘。经手术结扎2条供养动脉后，患儿心力衰竭及下肢肿胀好转。基因检测提示存在来自父源的RASA1基因杂合变异（c.2828T>C、p.Leu943Pro）。6月龄复查血管造影显示仍存在脊柱内AVM，但患儿心功能良好。文献检索共收集到3篇共4例新生儿CM-AVM资料，均为国外文献。结合本例共5例新生儿CM-AVM，临床表现均有皮肤CM、肢体肿胀或头围增大、合并AVM，充血性心力衰竭者4例，5例均有阳性家族史。结论:CM-AVM罕见，在新生儿期即可发病。如发现CM和不明原因充血性心力衰竭时，应考虑到CM-AVM可能，及时进行影像学检查和基因检测有助于早期诊断和治疗及预后。“,”Objective:To study the clinical characteristics and current treatment of neonatal capillary malformation-arteriovenous malformation (CM-AVM).Methods:Clinical data of a newborn diagnosed with neonatal CM-AVM caused by RASA1 gene variation admitted to Shanghai Children′s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine was retrospectively analyzed, and related literature was reviewed. Databases of CNKI, WanFang, and Pubmed were searched for the literature from January 1, 2009 to December 31, 2018, with the keywords of “capillary malformation-arteriovenous malformation” “neonatal” and “RASA1 gene” . The clinical features of neonatal CM-AVM were summarized.Results:A one-day-old male infant was admitted to hospital due to swelling of both lower extremities with erythema with elevated skin temperature, who later presented with acute heart failure on the third day of hospitalization. A giant spinal arteriovenous fistula was identified by abdominal contrast-enhanced computed tomography and digital subtraction angiography. After surgical ligation of two feeding arteries, both heart failure and lower limb swelling improved. Genetic testing detected a novel paternal heterozygous variation of RASA1 gene. Digital subtraction angiography showed that spinal AVM still exist at the age of 6 months, but the heart function was good. A total of 4 cases of neonatal CM-AVM had been reported in 3 papers. According to these 5 cases, the clinical manifestations of neonatal CM-AVM were summarized: multiple dermal capillary malformation (5 cases), limb swelling or head circumference enlargement (5 cases), arteriovenous malformation (5 cases), congestive heart failure (4 cases) and positive family history (5 cases).Conclusions:CM-AVM is a rare disease and could present early in neonatal period. Capillary malformation and congestive heart failure of unknown origin in infants may indicate the existence of CM-AVM, and timely imaging and genetic test will help early diagnosis and treatment, and improve prognosis.