: 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....
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Discussion
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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