✓ Beckwith–Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by gigantism, macroglossia, exophthalmos, postpartum hypoglycemia, and multiple midline defects such as omphalocele. The authors describe, to the best of their knowledge, the first case of a child in whom BWS was diagnosed and who was subsequently treated for a nasal encephalocele.
Because the authors believe that this feature might not be an incidental finding in patients with BWS, intranasal masses in these patients should be carefully differentiated, as complications might be severe.
Abbreviations used in this paper: BWS = Beckwith–Wiedemann syndrome; MR = magnetic resonance; Shh = sonic hedgehog.
Address correspondence to: Marike L. D. Broekman, M.D., Ph.D., Department of Neurosurgery, G03.124, University Medical Center Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands. email:
DeBaunMRNiemitzELMcNeilDEBrandenburgSALeeMPFeinbergAP: Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. Am J Hum Genet70:604–6112002
DeBaunMR, NiemitzEL, McNeilDE, BrandenburgSA, LeeMP, FeinbergAP: Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. 70:604–611, 2002)| false
Martínez y MartínezRMartínez-CarboneyROcampo-CamposRRiveraHGómez Plascencia y CastilloJCuevasA: Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases. Genet Couns3:67–761992
Martínez y MartínezR, Martínez-CarboneyR, Ocampo-CamposR, RiveraH, Gómez Plascencia y CastilloJ, CuevasA, : Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases. 3:67–76, 1992)| false