Bilateral Choanal Atresia in a Newborn With Trisomy of Chromosome 21: A Case Report.

The aim of this study is to report the case of a newborn with bilateral choanal atresia (CA) associated with trisomy of chromosome 21, highlighting the clinical, diagnostic, therapeutic, and prognostic aspects of this rare condition, in order to contribute to the knowledge and management of similar cases. The case involved a late preterm female newborn, White, born by vaginal delivery in a city in the interior of the state of São Paulo, weighing 3,120 g, with a head circumference of 33 cm. At birth, she presented cyanosis, absence of cry, hypotonia, and bradycardia, requiring ventilation and orotracheal intubation. The unsuccessful attempt to pass a nasogastric tube suggested nasopharyngeal obstruction. Since birth, she presented phenotypic features typical of Down syndrome, including low-set ears, dorsal gibbus, and epicanthal folds. Imaging examinations confirmed bilateral CA, and karyotyping confirmed trisomy of chromosome 21. She underwent surgical correction, with satisfactory initial progress, and was discharged after 28 days. Two months later, she presented with recurrence of choanal synechia and underwent reoperation for airway recanalisation. Therefore, the association between bilateral CA and Down syndrome is rare and carries a significant neonatal respiratory impact. Early diagnosis and a multidisciplinary approach are essential to reduce complications and improve prognosis.