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Choanal atresia and associated anomalies
1Department of Otolaryngology, Centre Hospitalier de l'Université Laval, Quebec City, Canada.
International Journal of Pediatric Otorhinolaryngology
|October 1, 1987
Summary
This study analyzed 130 choanal malformation cases, finding atresias and stenosis. Many cases presented with other anomalies, including features of CHARGE association, suggesting developmental links.
Area of Science:
- Otolaryngology
- Pediatric Surgery
- Medical Genetics
Background:
- Choanal atresia is a congenital nasal obstruction.
- It can occur unilaterally or bilaterally, impacting infant feeding and breathing.
- Associated anomalies are common, particularly in CHARGE syndrome.
Purpose of the Study:
- To analyze the incidence and types of choanal malformations in a clinical cohort.
- To investigate the association of choanal atresia with other congenital anomalies.
- To explore the potential pathogenetic mechanisms, including neuroectodermal cell migration.
Main Methods:
- Retrospective review of 130 cases diagnosed with choanal malformation.
- Classification of malformations into atresia (bilateral/unilateral) and stenosis.
- Documentation of associated anomalies and features of CHARGE association.
Main Results:
- 130 cases included 53 bilateral atresias, 51 unilateral atresias, and 26 choanal stenosis cases.
- 57 cases (43.8%) had associated anomalies.
- 38 cases (29.2%) exhibited at least two features of CHARGE association.
Conclusions:
- Choanal malformations, particularly atresia, frequently co-occur with other congenital defects.
- The high prevalence of CHARGE association features suggests a common developmental pathway.
- Abnormal neuroectodermal cell migration is a plausible explanation for choanal atresia pathogenesis.