Beckwith-Wiedemann syndrome
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Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterised by a unique set of features that can consist of:
- macroglossia: most common clinical finding 4
- otic dysplasia ref
- omphalocoele
- localised gigantism / macrosomia
- hemihypertrophy
- cardiac anomalies
- pancreatic islet cell hyperplasia
- organomegaly
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 recognised increased risk for the development of neoplasia 4. Another 10-20 of cases show paternal disomy 11.
Associations
- Wilms tumour(s) 1
- polyhydramnios
- non-malignant renal diseases 3
- premalignant renal diseases
- adrenocortical carcinoma
- gonadoblastoma
- rhabdomyosarcoma
- neuroblastoma
- pancreatoblastoma
- hepatoblastoma
- placental pathology
- postnatal hypoglycaemia
- genitourinary anomalies
History and etymology
First described independently by JB Beckwith in 1963 and H-R Wiedemann in 1964 6,7.
-<li><a href="/articles/omphalocoele">omphalocoele</a></li>- +<li><a href="/articles/omphalocele-1">omphalocoele</a></li>
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