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BECKWITH WIEDEMANN SYNDROME - A CASE REPORT

Journal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 10)

Publication Date:

Authors : ;

Page : 114-115

Keywords : Beckwith Wiedemann syndrome; Igf2; chromosome 11p15.5;

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Abstract

B e c k w i t h W i e d e m a n n s y n d r o m e i s a n over- growth syndrome characterised by macrosomia, abdominal wall defect and organomegaly. Here we present a typical case of BWS where the baby presented with macroglossia, hemihypertrophy and symptomatic hypoglycaemia without evidence of embyronal tumours. Baby was successfully treated and parents were given genetic counselling and were advised to bring the baby for regular follow-up

Last modified: 2019-12-03 16:07:44