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Beckwith Wiedemann syndrome

Dr Yuranga Weerakkody et al.

The Beckwith Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterised by a unique set features which can consist of :

macroglossia (most common clinical finding ⁴)
otic dysplasia ^ref
omphalocoele
localised gigantism / macrosomia
hemihypertrophy
cardiac anomalies
pancreatic islet cell hyperplasia
organomegalies
- nephromegaly
- hepatosplenomegaly

Epidemiology

The incidence is reported at ~ 1 : 13,000 - 37,000 live births.

Pathology

The majority of cases are sporadic while a small proportion ( ~ 15 %) is autosomal dominant with abnomality related to chromosome 11p15.5. The syndrome carries a well recognised increased risk for the development of neoplasia ⁴. Another 10 - 20 of cases show paternal disomy 11.

Associations

Wilms tumour(s) ¹of kidneys
polyhydramnios
non malignant renal diseases ³
- medullary renal cysts
- calyceal diverticula
- nephrolithiasis
pre-malignant renal diseases
- perilobar nephroblastomaosis
adrenocortical carcinoma
gonadoblastoma
rhabdomyosarcoma
neuroblastoma
pancreatoblastoma
hepatoblastoma
placental pathology
- placentomegaly
- molar degeneration of placenta
post natal hypoglygaemia
genito-urinary anomalies
- hypospadias
- cryptorchidism

Etymology

First described by Beckwith and Wiedemann in 1965.

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