Is there a role for whole genome sequencing in idiopathic vocal fold immobility?

Abstract

Pediatric bilateral vocal fold immobility (BVFI) is most commonly congenital and idiopathic. Establishing an etiology is critical to providing appropriate management to prevent respiratory insufficiency and death. Genetic diseases may be an under-diagnosed cause of idiopathic BVFI. Here we report on two pediatric cases in which whole genome sequencing played a key role in the diagnosis of BVFI—in one case, BVFI resulted in a mortality and in the other case, the diagnosis of a genetic mutation altered the management and potentially the course of BVFI.