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CHARGE and esophageal atresia
M Kutiyanawala1, R K Wyse, R J Brereton
1Department of Surgery, Hospitals for Sick Children, Institute of Child Health, London, England.
Journal of Pediatric Surgery
|May 1, 1992
Summary
CHARGE association in infants often leads to death within 2 years. Recognizing CHARGE syndrome features is crucial for prognosis and treatment, impacting infant survival rates.
Area of Science:
- Pediatric Medicine
- Medical Genetics
- Neonatology
Background:
- CHARGE association is a complex genetic disorder affecting multiple organ systems in infants.
- Early diagnosis and understanding of CHARGE association are critical for managing affected neonates.
Purpose of the Study:
- To analyze the clinical features, outcomes, and prognostic factors in infants diagnosed with CHARGE association.
- To highlight the importance of recognizing CHARGE association for improved patient management and survival.
Main Methods:
- Retrospective review of 61 infants diagnosed with CHARGE association.
- Analysis of clinical data including congenital anomalies, mortality, and treatment outcomes.
Main Results:
- 20 out of 61 infants died, primarily within the first 2 years of life.
- Common anomalies included esophageal atresia/tracheoesophageal fistula (10/61) and major cardiac defects (all infants), predominantly tetralogy of Fallot.
- Postoperative complications were frequent, with a 70% mortality rate among those undergoing esophageal repair.
Conclusions:
- CHARGE association presents significant challenges in infant care, with high mortality rates.
- Prompt identification of CHARGE association features is essential for guiding therapeutic interventions and improving prognostic assessments.