Related Experiment Videos
Congenital anomalies in patients with choanal atresia: CHARGE-association
Insights
This study supports the CHARGE association, linking choanal atresia with Coloboma, Heart defects, developmental issues, Genital hypoplasia, Ear anomalies, and deafness. Orofacial clefts and esophageal atresia may also be key symptoms.
Area of Science:
- Medical Genetics
- Pediatric Medicine
- Otolaryngology
Background:
- Choanal atresia (ChA) is a congenital nasal obstruction.
- The CHARGE association is a complex syndrome with variable expressivity.
Observation:
- Six new cases of choanal atresia with malformations were studied.
- A literature review of 110 additional cases was performed.
- Facial dysmorphism was consistently observed in affected infants.
Findings:
- The study supports the CHARGE association (Coloboma, Heart Disease, Atresia of choanae, Retarded development, Genital hypoplasia, Ear anomalies/deafness).
- Orofacial clefts and esophageal atresia are suggested as additional core features.
- Bilateral choanal atresia with cardiac or renal anomalies indicates high mortality risk.
Implications:
- Findings refine diagnostic criteria for the CHARGE association.
- Early identification of associated anomalies is crucial for management.
- The etiology remains unclear, but recurrence risk appears low.
Abstract:
Six patients with both choanal atresia (ChA) and additional malformations are described and another 110 cases with this combination reviewed from the literature. Our study of these cases supports the existence of the CHARGE-association (Coloboma, Heart Disease, Atresia of choanae, Retarded mental development and growth, Genital hypoplasia, Ear anomalies and deafness). Our findings suggest the inclusion of orofacial clefts and oesophageal atresia among the main symptoms of this association. A certain degree of facial dysmorphism (low set, dysplastic ears, retrogenia, antimongoloid slant of palpebral fissures and anteverted nares) was observed in each of our cases. Infants with the bilateral type of ChA plus cardiac defects and those with ChA plus renal malformations have a high mortality rate. The aetiology of the association is not clear. The recurrence risk may be low.