Beckwith–Wiedemann syndrome
Pronunciation: BEK-with WEE-deh-mahn
An overgrowth and tumour predisposition syndrome characterised by macroglossia, abdominal wall defects, visceromegaly, and increased risk of embryonal tumours such as Wilms tumour and hepatoblastoma.
Full Definition
Beckwith–Wiedemann syndrome (BWS) results from dysregulation of imprinted genes on chromosome 11p15.5 and encompasses a broad clinical spectrum. Key features include macroglossia, omphalocele or umbilical hernia, neonatal hypoglycaemia, hemihyperplasia, and organomegaly. BWS carries an elevated risk for embryonal tumours, necessitating tumour surveillance protocols. Editors should use an en dash (–) rather than a hyphen (-) in the eponym, per standard medical style (Beckwith–Wiedemann, not Beckwith-Wiedemann). The abbreviation BWS is acceptable after first use.
Usage
Usage note: Always use an en dash (–) in this eponymous syndrome name. Do not use a hyphen or em dash.
In Context
- "The neonate's macroglossia and umbilical hernia were consistent with Beckwith–Wiedemann syndrome, prompting abdominal ultrasound surveillance." — Neonatal pathology referral
- "Note the required en dash in 'Beckwith–Wiedemann'; a hyphen is incorrect in this eponym." — Copy-editing annotation