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BECKWITH WIEDEMANN SYNDROME - A CASE REPORT

KAVITHA T

Abstract


Beckwith Wiedemann syndrome is an  over- growth syndrome characterised by macrosomia, abdominal wall defect and organomegaly. Here we present a typical case of BWS where the baby presented with macroglossia, hemihypertrophy and symptomatic  hypoglycaemia without evidence of embyronal tumours. Baby was successfully treated and parents were given genetic counselling and were advised to bring the baby for regular follow-up

 


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References


Nelson’s textbook of Pediatrics- 20th edition

Smith’ s recognisable patterns of human malformation- 7th edition

Tan TY, Amor DJ. Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice. J Paed Child Health.2006;42:486–490.

Smith AC, Rubin T, Shuman C, et al. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith–Wiedemann syndrome. Cytogenet Genome

Res. 2006;113:313–317


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