An unusual presentation of bilateral choanal atresia: How often is the diagnosis missed?

Abstract

Abstract: Bilateral choanal atresia is a rare congenital anomaly commonly seen in CHARGE syndrome in which the posterior airway is obstructed between the nose and the pharynx in both nostrils. It constitutes a neonatal emergency. We report the case of bilateral choanal atresia in a late preterm female infant who presented with respiratory distress and cyanosis on the first day of life but whose definitive diagnosis was achieved in the second week due to other antecedent comorbidities. We highlight the diagnostic challenges and the need to have a high index of suspicion in similar situations.