A Case of Atypical Beckwith Weidemann Syndrome Spectrum with Uterine Hypertrophy, Hepatic and Renal Cysts and Myocardial Hypertrophy – A Case Report

Abstract

Beckwith Wiedemann Syndrome is a rare, genetic imprinting disorder involving the 11p15 chromosome, resulting in a wide variety of clinical features like macroglossia, anterior abdominal wall defects, hemihypertrophy and hypoglycaemia. Here we present a case of a newborn female with macrosomia, macroglossia,ear pits and generalised visceromegaly. Baby had no recording of hypoglycaemia. Ultrasound was suggestive of generalised visceromegaly including hypertrophic uterus. Simple cysts of liver and left kidney were noted. Baby was clinically stable and has hence been counselled for regular follow up for monitoring for development of tumours.