Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype. (25th December 2014)

• Record Type: Journal Article
• Authors: 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
• Other Names: Morrison Patrick Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2014(2014)
• Publication Date: 2014-12-25
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2014/989425
• Languages: English
• ISSNs: 2090-6544

Abstract

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.