关键词: 新生儿, 婴儿, Prader-Willi综合征, 误诊

Abstract: Objective Two misdiagnosis cases with neonatal Prader -Willi syndrome(PWS)were analyzed,in order to early diagnosis and reduce misdiagnosis or missed diagnosis. Methods The clinical manifestation and diagnosis of 2 cases with PWS were analyzed retrospectively from June 2009 to June 2016.The clinical features and misdiagnosis reasons were summarized Results Two cases of PWS described in this study had some features such as decreased fetal movement,hypotonia,poor response,feeding difficulty,less crying and doing,special appearances and cryptorchidism,Testing their chromosome 15 q11.2 belt in the middle part missing with methylation specific multiplex ligation dependent probe amplification (MS-MLPA) Method can diagnose PWS. Conclusion The clinical manifestations of neonatal PWS is not typical.It is easy to result in misdiagnosis or missed diagnosis.Improving cognition of the disease can reduce misdiagnosis.The children with poor muscle tone,feeding difficulties and special features,genetic analysis is needed in time for early diagnosis.   

Key words: newborn, infant, Prade-Willi syndrome, misdiagnosis