: Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder caused by genetic and epigenetic alterations on chromosome 11p15.5. While macroglossia, abdominal wall defects, and tumor predisposition are well recognized, hearing impairment has been sporadically reported....
Audiologists working with patients who have Beckwith-Wiedemann syndrome should be aware of associated hearing involvement, but clinical protocols should await clearer evidence from larger studies; routine audiological monitoring of these patients is prudent.
This is the first systematic review of audiological findings in Beckwith-Wiedemann syndrome, providing a foundation for evidence-based hearing surveillance guidelines in this rare genetic population.
- 01Beckwith-Wiedemann syndrome (BWS) is a rare congenital overgrowth disorder linked to chromosome 11p15.5 alterations.
- 02Systematic review is the first to specifically examine the audiological profile of BWS patients.
- 03Hearing involvement in BWS appears undercharacterized in current literature.
- 04Findings may support the case for routine audiological screening in BWS patients.
- 05Evidence base is limited by the rarity of the syndrome and small study populations.
Audiological abnormalities are present in at least a subset of patients with Beckwith-Wiedemann syndrome.
studypartially supported- PMID
- 42074571
- DOI
- 10.3390/genes17040453.
- Journal
- Genes
- Publication type
- systematic_review
- Evidence level
- 1a
- Population
- Patients with Beckwith-Wiedemann syndrome
- Intervention
- Audiological assessment and hearing outcomes in Beckwith-Wiedemann syndrome
Primary outcomes
Prevalence and type of hearing loss in Beckwith-Wiedemann syndrome; Audiological characteristics associated with BWS