Bifid epiglottis as a cause of recurrent pneumonia in a patient with Bardet-Biedl syndrome, a ciliopathy

Abstract

Abstract Bardet-Biedel syndrome (BBS) is a rare autosomal recessive disorder and a ciliopathic disease that affects many organ systems. It is characterized by obesity, renal anomalies, polydactyly, cone-rod dystrophy, and pervasive developmental delay. Bifid epiglottis is a rare anatomic anomaly that has been reported in association with BBS. Bifid epiglottis typically presents clinically with stridor, recurrent upper respiratory infections, and/or aspiration. A child with BBS presented for evaluation of recurrent pneumonia and was subsequently found to have a bifid epiglottis. This case report highlights the importance of upper airway evaluation in BBS patients.