hrp0086p1-p559 | Perinatal Endocrinology P1 | ESPE2016

Recognition of the Fetal and Perinatal Features of the Prader-Willi Syndrome is Required to Avoid Delay in Diagnosis

Cizmecioglu Filiz Mine , Jones Jeremy Huw , Paterson Wendy Forsyth , Kherra Sakina , Kourime Mariam , Shaikh M Guftar , Donaldson Malcolm

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...