Case reports in genetics
Publication date:
2014-01-01
Volume:
2014
Pages:
989425 -
DOI:
10.1155/2014/989425
Author:
Mbuyi-Musanzayi, Sébastien
Lubala Kasole, Toni ; Lumaka, Aimé ; Kayembe Kitenge, Tony ; Kabamba Ngombe, Leon ; Kalenga Muenze, Prosper ; Lukusa Tshilobo, Prosper ; Tshilombo Katombe, François ; Banza Lubaba Nkulu, Célestin ; Devriendt, Koenraad
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.