Enlarged Vestibular Aqueduct: Audiological and Vestibular Profiles in Siblings with Genetic Mutations

Auditory sensation, commonly called hearing, involves the transformation of sonic waves into neural impulses facilitated by the structures of the auditory organ. The prominent, flesh-like structure on the side of the head, called the auricle, directs sound waves towards the auditory canal. The auricle is often mislabeled as the pinna, a term more aligned with mobile structures like a feline's external ear. The auditory canal penetrates the cranium via the external auditory meatus of the...

The vestibular system is a set of inner ear structures that provide a sense of balance and spatial orientation. This system is comprised of structures within the labyrinth of the inner ear, including the cochlea and two otolith organs—the utricle and saccule. The labyrinth also contains three semicircular canals—superior, posterior, and horizontal—that are oriented on different planes.

The inner ear assumes dual functionalities of auditory perception and equilibrium maintenance. The vestibule is the organ responsible for balance. This organ contains mechanoreceptors, specifically hair cells, endowed with stereocilia, which aid in deciphering information regarding the position and motion of our heads. Two intrinsic components, the utricle and saccule, help perceive head position, while the semicircular canals track head movement. Neurological messages initiated in the...

The cochlea is a coiled structure in the inner ear that contains hair cells—the sensory receptors of the auditory system. Sound waves are transmitted to the cochlea by small bones attached to the eardrum called the ossicles, which vibrate the oval window that leads to the inner ear. This causes fluid in the chambers of the cochlea to move, vibrating the basilar membrane.