摘要
目的分析MAGEL2新发变异致Schaaf-Yang综合征(SYS)1例,并总结SYS与Prader-Willi综合征(PWS)患儿新生儿期的临床特征,以便早期识别与及时干预。方法回顾性分析2018年8月至2021年4月在郑州大学第三附属医院新生儿科诊断为SYS和PWS的5例患儿的临床资料,并结合其基因型进行分析。结果5例患儿中男1例,女4例;早产儿1例,足月儿4例;小于胎龄儿3例;试管婴儿1例;均有反应差、哭声弱、肌张力低下表现。1例SYS患儿发黑、眉浓、关节挛缩、隐睾、小阴茎;4例PWS患儿均具备前额突出、窄脸、杏仁眼、小嘴、薄上唇;1例为MAGEL2基因c.2167delG点突变引起(为新发变异);3例为杂合缺失;根据近端断裂点位置,2例患儿为缺失Ⅰ型,1例患儿为缺失Ⅱ型;1例为母源混合型单亲二倍体。结论SYS与PWS临床表型有重叠之处,患儿新生儿期均有反应差、哭声弱、肌张力低下、喂养困难,但关节挛缩多见于SYS,可行基因检测及染色体微阵列检查明确诊断。
Objective To analyze 1 case of Schaaf-Yang syndrome(SYS)caused by a new mutation of MAGEL2,and summarize the clinical characteristics of SYS and Prader-Willi syndrome(PWS)in neonates in order to early identification and timely intervention.Methods The clinical data of 5 children diagnosed with SYS and PWS in the Department of Neonatology of the Third Afiliated Hospital of Zhengzhou University from August 2018 to April 2021 were retrospectively analyzed,and correlation analysis was performed in combination with their genotypes.Results There were 1 case of male and 4 cases of female.One case was premature and 4 cases were full-term infants.Three cases were small for gestational age.One case of test-tube baby.All of them showed poor response,weak crying and hypotonia.One case of SYS child had blackness,thick eyebrow,joint contracture,cryptorchidism and small penis.All the 4 children with PWS had prominent forehead,narrow face,almond eyes,small mouth and thin upper lip.One case was caused by MAGEL2 gene C.2167delG point mutation(a new mutation),3 cases were heterozygous deletion.According to the location of the proximal fracture point,2 cases were missing type I and 1 case was missing type II.One case was uniparental disomy.Concusion SYS and PWS have overlapping clinical phenotypes,with poor response,weak crying,hypotonia,feeding difficulties in neonatal period.However,joint contracture is more common in SYS,which can be clearly diagnosed by gene testing and chromosomal microarray.
作者
张晓丽
徐发林
王慧娟
尚利宏
李书津
ZHANG Xiaoli;XU Falin;WANG Huijuan;SHANG Lihong;LI Shujin(Department of Neonatology,the Third Affiliated Hospital of Zhengzhou University,Zhengzhou 450051,China)
出处
《河南医学研究》
CAS
2022年第6期1012-1016,共5页
Henan Medical Research
