遗传学与基因组杂志

A Rare Case of Beckwith Wiedemann Syndrome

Abstract

Moomin Hussain Bhat, Shivani Sidana and Shariq Rashid Masoodi

Beckwith Wiedemann syndrome is rare congenital overgrowth syndrome. This syndrome usually presents in neonates with macroglossia, large birth weight, omphalocele, visceromegaly and hypoglycemia. However, there is little information available regarding the natural history in adults with BWS. Here we present a case of Beckwith-Wiedemann syndrome with its major manifestations but without hypoglycemia that was misdiagnosed in infancy with mucopolysaccharidosis and presented to us at 14 years of age with tall stature.