Diagnostic Algorithm Of Neonates With Prader-Willi Syndrome

Objective : To summarize the clinical features of Prader-Willi syndrome(PWS)in neonates for screening earlier and making further molecular genetic diagnosis to promote early interventions for PWS patients.Methods:The clinical data of 15 patients with PWS from Jan 2014 to May 2018 in Department of Neonatology,Children’s Hospital of Chongqing Medical University were collected retrospectively.And meanwhile reviewed articles that discribe the fetures of Chinses PWS in neonates.The presence of the major and minor feathers were analyzed.Results:There were 15 cases described in this study,9 of them were male and 6 cases were female.The mean age were(13.16±2.56)days.The major features in neonatal period included hypotonia,feeding difficulty,poor response,less crying or weak crying(100%),9 cases of male neonates were small scrotum(100%),among them 6 cases were cryptorchidism(78%),only 1 in 6 cases of female was labia minora(17%),characteristic facial features was discribed in only 1 case(7%),the minor feature that skin hypopigmentation was discribed in 6 cases(40%).In addition,hydramnios in 3 cases,premature rupture of membrane in 4 cases,intrauterine embarrassment in 5 cases,caesarean section in 10 cases,assisted vaginal deliveries with forceps or vacuum in 2 cases,small forgestational age(SGA)in 11 cases.Including these 85 neonates from the 17 literatures,the phenotypes were discribed as the follows: hypotonia,less crying or weak crying,feeding difficulty,skin hypopigmentation,hypogonadism,cesarean,characteristic facial features,SGA,decreased fetal movement,LBW,polyhydramnios,premature birth.Conclusion : we suggest testing all newborns with otherwise unexplained hypotonia with poor suck,feeding difficulties,less crying or weak crying.Hypogonadism,especially male with small scrotum or cryptorchidism is very important clinical clue.Meanwhile,abnormal peripartum features like SGA,is also meaningful.