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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Bibliografske podrobnosti
izdano v:Case Rep Genet
Main 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
Format: Artigo
Jezik:Inglês
Izdano: Hindawi Publishing Corporation 2014
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4290800/
https://ncbi.nlm.nih.gov/pubmed/25610673
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/989425
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