Article (Scientific journals)
Meningocele in a congolese female with beckwith-wiedemann phenotype.
Mbuyi-Musanzayi, Sebastien; Lubala Kasole, Toni; Lumaka Zola, Aimé et al.
2014In Case Reports in Genetics, 2014, p. 989425
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Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Mbuyi-Musanzayi, Sebastien
Lubala Kasole, Toni
Lumaka Zola, Aimé  ;  Université de Liège - ULiège > Human Genetics
Kayembe Kitenge, Tony
Kabamba Ngombe, Leon
Kalenga Muenze, Prosper
Lukusa Tshilobo, Prosper
Tshilombo Katombe, Francois
Banza Lubaba Nkulu, Celestin
Devriendt, Koenraad
Language :
English
Title :
Meningocele in a congolese female with beckwith-wiedemann phenotype.
Publication date :
2014
Journal title :
Case Reports in Genetics
ISSN :
2090-6544
eISSN :
2090-6552
Publisher :
Hindawi, Cairo, Egypt
Volume :
2014
Pages :
989425
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 18 January 2019

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