Clinical Analysis Of 7 Cases Of Prader-Willi Syndrome

Objective: The clinical characteristics of 7 cases of prader-willi syndrome were analyzed.Method: The clinical characteristics of 7 children with PWS diagnosed in our hospital from May 2016 to August 2018 were collected,and the results of their appearance characteristics,growth and development,chromosome karyotype,Methylation-Specific Multiplex Ligation dependent Probe Amplification(MS-MLPA)were analyzed.Result: Among the diagnosed children,4 were male and 3 were female,and the children with PWS range from 10 days to 12 years.The main clinical manifestations of the PWS children were: all of the children with PWS had hypotonia ?feeding difficulties ?5 cases had poor reaction?5 cases had special facial features?3 cases had development delay and mental retardation?3 cases had bulimia and obesity?4 cases had genital dysplasia?3 cases had specific behavior?3 cases had hypopigmentation of the skin and hair?2 cases with small hands and feet?2 cases spoke unclearly?1 child with diabetes mellitus.There were no abnormalities in the karyotype analysis,and the results of MS-MLPA in 6 cases shown the deletion of paternal 15q11.2-q13.Conclusion: PWS should be highly suspected for the children with unexplained hypotonia,poor suck,feeding difficulties and poor mental reaction in the neonatal period and increased appetite?overeating?obesity?special facial features and abnormal behaviors in childhood.In order to achieve early diagnosis,early intervention and improve the prognosis of children with pws,molecular detection should be further carried out.