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目的:报道国内首例脊髓性肌萎缩伴先天性骨折(spinal muscular atrophy with congenital bone fractures，SMABF)1型新生儿，探讨变异型SMA合并先天性骨折患儿的临床特征、诊断治疗及基因特点。方法:对深圳市儿童医院新生儿重症监护病房收治的1例SMABF1新生儿临床资料进行回顾性分析。以“儿童脊髓性肌萎缩或脊肌萎缩症”、“先天性骨折”、“甲状腺激素受体相互作用因子4”、“婴儿，新生”、“新生儿”和“Spinal muscular atrophy”、“Congenital fracture”、“Thyroid hormone receptor interaction factor 4 or TRIP 4”、“Infant, newborn”为关键词，分别对中国生物医学文献数据库、中国知网、万方数据库、维普中文科技期刊全文数据库、PubMed、Embase、The Cochrane Library、Web of Science、Springer Link、OVID数据库自建库至2019年12月22日收录的文献进行检索，总结变异型SMA合并先天性骨折患儿的临床特征和基因突变特点。结果:本例患儿为足月女婴，表现为关节挛缩，肌力、肌张力低下，伴先天性肱骨骨折、呼吸衰竭，全外显子基因检测发现TRIP4基因第2个外显子发生纯合变异：c.135dupA p．(Arg46fs)，父母均为携带者，家属要求出院后当天死亡。文献检索目前国内尚无SMA合并先天性骨折新生儿病例报道，国外文献共收集6篇15例患儿，SMABF1 3例，其他具有SMA合并先天性骨折表现但致病基因不同12例，涉及的基因包括TRIP4、ASCC1、UBA1、EXOSC9和BICD2。结论:SMABF1患儿主要表现为胎动减少，肌力、肌张力低下，关节挛缩及先天性骨折，无特异治疗方法，多早期死亡。文献复习显示变异型SMA合并先天性骨折发病率低，临床表现与SMABF1相似，涉及多种不同基因变异，积极开展基因检测可明确诊断。“,”Objective:The first case of spinal muscular atrophy with congenital fracture type 1 (SMABF1) in China was reported and the clinical features, diagnosis, genetic characteristics of SMABF1 were reviewed.Method:The data of one neonate with SMABF1 admitted to NICU of our hospital was retrospectively analyzed. Databases were searched including China Biology Medicine disc, CNKI, Wanfang, VIP, PubMed, Embase, the Cochrane Library, Web of Science, Springer Link and OVID starting from the date the databases established until Dec 22, 2019. Literatures were retrieved using the following key words: “spinal muscular atrophy or spinal muscular atrophy in children” , “congenital fracture” , “thyroid hormone receptor interaction factor 4” , “infant, newborn” and “newborn” . We summarized the clinical and genetic characteristics of SMABF1.Result:The clinical features of our case was a full-term female infant with joint contracture, hypotonia, muscle weakness, congenital fracture of humerus and respiratory failure. Homozygous variation in the second exon of TRIP4 gene was found using whole-exome sequencing: TRIP4 15q22.31 NM_016213.4 Exon2 c. 135dupA p. (Arg46fs). To our knowledge, this is the first case of newborn SMABF1 syndrome caused by TRIP4 gene mutation reported in China. A total of 6 literature and 15 cases of SMA with congenital bone fracture were found, including 3 SMABF1 cases and the other 12 cases were caused by ASSC1, UBA1, EXOSC9 and BICD2 n variation.n Conclusion:The main manifestations of neonatal SMABF1 caused by TRIP4 gene mutation are decreased or absent fetal movement, severe muscular hypotonia, muscle weakness, joint contracture, congenital fracture of humerus and respiratory failure.No effective treatments are existed for now and early death is very common in reported cases. Literature review shows that variations of SMA accompanied with congenital fracture have a low incidence. The reported cases share similar clinical features with SMABF1, involving a variety of genetic mutations. The genetic tests are useful in confirming the diagnosis and determining the mutation spectrum.