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

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.