Meningocele in a congolese female with beckwith-wiedemann phenotype.

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

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.

Afiliação

Mbuyi-Musanzayi S; Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
Lubala Kasole T; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo ; Department of Pediatrics, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
Lumaka A; Department of Pediatrics, University Hospital, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of the Congo ; Center for Human Genetics, University Hospital, KU Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.
Kayembe Kitenge T; Unit of Toxicology and Environment, School of Public Health, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
Kabamba Ngombe L; Unit of Toxicology and Environment, School of Public Health, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
Kalenga Muenze P; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo ; Department of Gynecology, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
Lukusa Tshilobo P; Department of Pediatrics, University Hospital, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of the Congo ; Center for Human Genetics, University Hospital, KU Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.
Tshilombo Katombe F; Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
Banza Lubaba Nkulu C; Unit of Toxicology and Environment, School of Public Health, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.
Devriendt K; Center for Human Genetics, University Hospital, KU Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium.

Case Rep Genet ; 2014: 989425, 2014.

Article em En | MEDLINE | ID: mdl-25610673

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.

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Idioma: En Revista: Case Rep Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: República Democrática do Congo

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google