Bifid Epiglottis as a Cause of Recurrent Pneumonia in a Patient with Bardet-Biedl Syndrome, a Ciliopathy

Ciliopathic diseases comprise a group of genetic disorders associated with abnormal formation or function of cilia. These abnormalities can manifest as a broad spectrum of physical findings including bronchiectasis, situs inversus, postaxial polydactyly, and retinal abnormalities with the prominent organs affected being the brain, liver, eye, and kidney. Presentation of symptoms can occur on a broad spectrum of age depending on the severity of the mutation [1].

Source: International Journal of Pediatric Otorhinolaryngology Extra - October 15, 2015 Category: ENT & OMF Authors: Elizabeth Copenhaver, Samantha Hanna, Nicholas Mulhearn, Safina Kureshi, Myra Chiang, Kevin Maupin Source Type: research