Beckwith Wiedemann syndrome

Thoracic
vertebra as seen from top.
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Thoracic
vertebra as seen from side
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A photograph
of Joseph Merrick (1862–1890), sometimes called the "Elephant Man". This photograph was taken in 1889 and published in the British Medical Journal with the announcement of Merrick"s death.
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Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterized by a unique set of features that can consist of:

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 abnormality related to chromosome 11p15.5. The syndrome carries a well recognized increased risk for the development of neoplasia . Another 10-20 of cases show paternal disomy 11.

Associations

History and etymology

First described independently by JB Beckwith in 1963 and H-R Wiedemann in 1964 .

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