Case Reports in Genetics (Jan 2014)
Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
Abstract
Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype.