Beckwith-Wiedemann syndrome in a premature dizygotic female twin: a case report

Abstract

Beckwith-Wiedemann Syndrome is a congenital disease that is rare and has low prevalence worldwide. It presents classically with features of macroglossia, abdominal wall defects (omphalocele), and macrosomia at birth. Other typical manifestations include facial nevus simplex, ear lobe abnormalities (creases and/or pits), transient hypoglycemia, and renal abnormalities seen on ultrasound. We report a case of a female preterm infant of twin gestation presenting at our level 4 hospital’s newborn unit with typical features of the syndrome. We aimed to create further awareness on the diagnosis in secondary health institutions and management of common features and complications of the syndrome. There is a paucity of pictorial evidence of morphology and literature related to the syndrome in an African child and this case report aims to improve that. No case has been previously reported in the Kenyan setting.