Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Sébastien Mbuyi-Musanzayi; Toni Lubala Kasole; Aimé Lumaka; Tony Kayembe Kitenge; Leon Kabamba Ngombe; Prosper Kalenga Muenze; Prosper Lukusa Tshilobo; François Tshilombo Katombe; Célestin Banza Lubaba Nkulu; Koenraad Devriendt

doi:10.1155/2014/989425

Case Reports in Genetics (Jan 2014)

Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Sébastien Mbuyi-Musanzayi,
Toni Lubala Kasole,
Aimé Lumaka,
Tony Kayembe Kitenge,
Leon Kabamba Ngombe,
Prosper Kalenga Muenze,
Prosper Lukusa Tshilobo,
François Tshilombo Katombe,
Célestin Banza Lubaba Nkulu,
Koenraad Devriendt

Affiliations

Sébastien Mbuyi-Musanzayi: Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo
Toni Lubala Kasole: Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo
Aimé Lumaka: Department of Pediatrics, University Hospital, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of the Congo
Tony Kayembe Kitenge: Unit of Toxicology and Environment, School of Public Health, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo
Leon Kabamba Ngombe: Unit of Toxicology and Environment, School of Public Health, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo
Prosper Kalenga Muenze: Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo
Prosper Lukusa Tshilobo: Department of Pediatrics, University Hospital, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of the Congo
François Tshilombo Katombe: Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo
Célestin Banza Lubaba Nkulu: Unit of Toxicology and Environment, School of Public Health, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo
Koenraad Devriendt: Center for Human Genetics, University Hospital, KU Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium

DOI: https://doi.org/10.1155/2014/989425
Journal volume & issue: Vol. 2014

Abstract

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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.

Published in Case Reports in Genetics

ISSN: 2090-6544 (Print); 2090-6552 (Online)
Publisher: Wiley
Country of publisher: United Kingdom
LCC subjects: Science: Biology (General): Genetics
Website: https://onlinelibrary.wiley.com/journal/4918

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