摘要目的:分析Schaaf-Yang综合征（Schaaf-Yang syndrome，SYS）的临床特征及基因特点。方法:对2022年10月北京大学深圳医院新生儿科收治的1例SYS患儿的临床资料进行回顾性分析。以“Schaaf-Yang综合征”、“新生儿”、“早产儿”、“Schaaf-Yang syndrome”、“newborn”、“preterm”、“neonate”为关键词分别对中国知网、万方数据库、维普数据库、中华医学期刊全文数据库、PubMed、Embase、Web of Science、Cochrane Library自建库至2023年3月24日收录的文献进行检索，总结SYS患儿临床特征及基因特点。结果:本例患儿为胎龄33 +3周女婴，以会厌塌陷、肌张力低下、反应差、吸吮吞咽无力、呼吸衰竭为主要表现，存在双侧耳位低、四肢短小等异常，予对症治疗，多次撤机失败，且每次气管插管困难，同时全外显子组测序结果发现患儿MAGEL2基因存在截断变异c.2892del（p.Trp965Glyfs*3），父母均未发生变异，生后30 d家属放弃治疗后死亡。检索到11篇有新生儿记录的文献，共17例患儿，主要临床特征为关节挛缩（15/17）、肌张力低下（14/17）、呼吸衰竭（12/17）、喂养困难（12/17）。基因变异多为截断变异，仅1例杂合缺失变异，其中c.1996dupC（p.Gln-666Profs*47）变异7例，c.1912C>T（p.Q638X）变异3例，c.1996C＞T（p.Q666*）、c.2847-2883del37、c.2118delT（p.Leu708Trpfs*7）、c.1850G>A（p.Trp617*）、c.2167delG（p.Ala723Profs*4）、c.2005C>T（p.Gln669）、c.2892del（p.Trp965Glyfs*3）变异各1例。 结论:新生儿SYS以关节挛缩、肌张力低下、喂养困难、呼吸衰竭为主要表现，基因变异多为c.1996dupC（p.Gln-666Profs*47）截断变异。

abstractsObjective:To study the clinical and genetic features of neonatal Schaaf-Yang Syndrome (SYS).Methods:The clinical data of a newborn with SYS admitted to our hospital in October 2022 were retrospectively analyzed. Using "Schaaf-Yang syndrome", "newborn", "preterm", "neonate" as keywords, we searched the CNKI, Wanfang Database, VIP database, Chinese Medical Journal Full Text Database, PubMed, Embase, Web of Science and the Cochrane Library for literature published during the date of establishment to March 24th, 2023. The clinical and genetic features of neonatal SYS from published literature were summarized.Results:The patient in this case was a female preterm infant with a gestational age of 33 +3 weeks, characterized by epiglottic collapse, hypotonia, poor response, weak sucking and swallowing, respiratory failure, and abnormalities such as bilateral low ear position and short limbs. The patient received symptomatic treatment, often failed to withdraw the ventilator, and had difficulty intubating. Meanwhile, whole exome sequencing identified a de novo truncated variant c.2892del (p.Trp965Glyfs*3) in the MAGEL2 gene of the patient. At 30 d after birth, the patient died after giving up treatment by her family. A total of 11 retrieved literatures had neonatal records, including 17 cases. The clinical features involved joint contracture (15/17), hypotonia (14/17), respiratory failure (12/17), and feeding difficulties (12/17). Most of the gene variation was truncated mutation, and only 1 heterozygote deletion mutation was found. These gene variation included c.1996dupC(p.Gln-666Profs*47) variation in 7 cases, c.1912C>T(p.Q638X) variation in 3 cases, c.1996C>T(p.Q666*) in 1 case, c.2847-2883del37 in 1 case, c.2118delT(p.Leu708Trpfs*7) in 1 case, c.1850G>A(p.RP617*) in 1 case, c.2167delG (p.Ala723Profs*4) in 1 case, c.2005C>T(p.Gln669) in 1 case, c.2892del(p.Trp965Glyfs*3) in 1 case, respectively. Conclusions:The main manifestations of neonatal SYS included hypotonia, feeding difficulties, respiratory failure and joint contracture. Most of the mutations were truncated mutations of c.1996dupC (p.Gln-666Profs*47).