Beckwith-Wiedemann syndrome

Beckwith-Wiedemann

syndrome • Beckwith-Wiedemann syndrome - Ganzer Fall bei Radiopaedia

Salam, H. Beckwith-Wiedemann syndrome. Case study, Radiopaedia.org. (accessed on 20 Oct 2022) https://doi.org/10.53347/rID-8025 • CC by-nc-sa 3.0 (modified)

Beckwith-Wiedemann

syndrome • Beckwith-Wiedemann syndrome - Ganzer Fall bei Radiopaedia

Salam, H. Beckwith-Wiedemann syndrome. Case study, Radiopaedia.org. (accessed on 20 Oct 2022) https://doi.org/10.53347/rID-8025 • CC by-nc-sa 3.0 (modified)

Beckwith-Wiedemann

syndrome • Beckwith-Wiedemann syndrome - Ganzer Fall bei Radiopaedia

Salguero, J. Beckwith-Wiedemann syndrome. Case study, Radiopaedia.org. (accessed on 20 Oct 2022) https://doi.org/10.53347/rID-22204 • CC by-nc-sa 3.0 (modified)

Beckwith-Wiedemann

syndrome • Beckwith-Wiedeman syndrome with bilateral Wilms tumors - Ganzer Fall bei Radiopaedia

Bickle, I. Beckwith-Wiedeman syndrome with bilateral Wilms tumors. Case study, Radiopaedia.org. (accessed on 20 Oct 2022) https://doi.org/10.53347/rID-60850 • CC by-nc-sa 3.0 (modified)

Radiopaedia • CC-by-nc-sa 3.0 • de

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterized by a unique set of features that can consist of:

macroglossia: most common clinical finding
otic dysplasia
omphalocoele
localized gigantism / macrosomia
hemihypertrophy
cardiac anomalies
pancreatic islet cell hyperplasia
organomegaly
- 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 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.