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Beckwith-Wiedemann syndrome in Bulawayo, Zimbabwe
1Department of Paediatrics, Bulawayo Central Hospital, Zimbabwe.
The Central African Journal of Medicine
|July 1, 1993
Summary
Beckwith-Wiedemann syndrome, characterized by macroglossia and exomphalos, presents serious health risks. Early diagnosis and long-term monitoring are crucial for managing potential complications like neonatal hypoglycemia and childhood malignancies.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Endocrinology
Background:
- Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder.
- The complete form is recognizable by macroglossia (enlarged tongue) and exomphalos (abdominal wall defect).
Observation:
- This report details three cases of BWS, all presenting with macroglossia and exomphalos.
- Despite these hallmark features, none of the reported patients experienced symptomatic hypoglycemia.
- Observed growth patterns varied significantly among the affected individuals.
Findings:
- The syndrome follows an autosomal dominant inheritance pattern, exhibiting incomplete penetrance and variable expressivity.
- The incidence in Bulawayo appears unusually low, with the underlying reason remaining unclear.
Implications:
- Early identification of BWS is critical for anticipating neonatal hypoglycemia risks.
- Long-term surveillance is essential due to the potential for developing childhood malignancies.
- Increased awareness of BWS is needed, particularly in regions with unexplained low incidence.