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[The CHARGE association]
E Finel1, P Parent, J D Giroux
1Service de pédiatrie et génétique médicale, CHU Morvan, Brest, France.
Insights
CHARGE association is a rare polymalformative disorder. Diagnosis requires specific malformations like coloboma and choanal atresia, impacting growth and development.
Area of Science:
- Genetics and developmental biology
- Medical genetics
- Pediatric medicine
Background:
- CHARGE association is a complex genetic disorder.
- Characterized by multiple congenital anomalies.
- Affects multiple organ systems.
Abstract:
The CHARGE association is a polymalformative disease associating coloboma, heart disease, atresia of choanae, retarded growth and development, genital hypoplasia and ear anomalies, CHARGE being an acronym based on these different malformations. The diagnosis requires at least four of these malformations including necessarily coloboma and/or atresia of choanae. The various clinical aspects, the genetics and the therapeutics implications are described.