Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

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 associate...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290800/
https://www.ncbi.nlm.nih.gov/pubmed/25610673
http://dx.doi.org/10.1155/2014/989425
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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
author_facet 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
author_sort Mbuyi-Musanzayi, Sébastien
collection PubMed
description 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.
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spelling pubmed-42908002015-01-21 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 Case Rep Genet Case Report 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. Hindawi Publishing Corporation 2014 2014-12-28 /pmc/articles/PMC4290800/ /pubmed/25610673 http://dx.doi.org/10.1155/2014/989425 Text en Copyright © 2014 Sébastien Mbuyi-Musanzayi et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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
Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
title Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
title_full Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
title_fullStr Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
title_full_unstemmed Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
title_short Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype
title_sort meningocele in a congolese female with beckwith-wiedemann phenotype
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290800/
https://www.ncbi.nlm.nih.gov/pubmed/25610673
http://dx.doi.org/10.1155/2014/989425
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