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Head and neck manifestations of Beckwith-Wiedemann syndrome
F L Rimell1, A M Shapiro, D L Shoemaker
1Department of Pediatric Otolaryngology, Children's Hospital of Pittsburgh, PA 15213-2583, USA.
Insights
Children with Beckwith-Wiedemann syndrome face upper airway obstruction risks. While macroglossia is a concern in infancy, tonsillar and adenoidal hypertrophy often cause obstruction in childhood.
Area of Science:
- Pediatric Otolaryngology
- Genetics and Rare Diseases
- Congenital Disorders
Background:
- Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterized by macroglossia, organomegaly, and hypoglycemia.
- Upper airway obstruction (UAO) is a recognized complication in infants and children with BWS.
- The etiology of UAO in BWS requires further elucidation to guide effective management.
Observation:
- This review examined 13 children diagnosed with Beckwith-Wiedemann syndrome.
- Two infants required tracheotomy due to cor pulmonale secondary to macroglossia.
- Seven of nine children over one year old underwent tonsillectomy and adenoidectomy for UAO relief.
Findings:
- Macroglossia can cause airway obstruction in infants with BWS.
- In childhood, UAO in BWS is primarily associated with tonsillar and adenoidal hypertrophy, not macroglossia.
- Anterior tongue reduction is indicated for malocclusion, articulation, or cosmetic reasons, not typically for airway obstruction.
Implications:
- Early identification and management of UAO are crucial for children with BWS.
- Tonsillectomy and adenoidectomy can effectively resolve obstructive symptoms in older children with BWS.
- Distinguishing the cause of UAO based on age is vital for appropriate surgical intervention in BWS patients.
Abstract:
Beckwith-Wiedemann syndrome is a congenital disorder manifested by organomegaly, omphalocele, hypoglycemia, and macroglossia. We have found a significant number of these children to be at risk for upper airway obstruction during infancy or childhood. In this review of 13 children, 2 required tracheotomy during infancy for cor pulmonale caused by macroglossia. Seven of nine children older than 1 year required tonsillectomy and adenoidectomy to relieve upper airway obstruction. Although macroglossia can be a cause of airway obstruction in infants with Beckwith-Wiedemann syndrome, we have found that airway obstruction during childhood is related to tonsillar and adenoidal hypertrophy and not to macroglossia. Anterior tongue reduction is reserved for the correction of malocclusion, articulation errors, or cosmesis, whereas tonsillectomy and adenoidectomy may be curative of obstructive symptoms.