LAUSR

The inner ear has complex anatomy with several genes involved in its development. A spectrum of malformations has been described with different proposed pathogenesis, clinical implications and associated sensorineural hearing loss (SNHL) [1]. Hereditary hearing loss (HL) encompasses approximately 50% of congenital SNHL cases and syndromic associations have been described with additional abnormalities involving other organ systems [2]. These syndromes may have genetic and/or environmental causes, posing interesting questions on the developmental and genetic links between the ear and the rest of the body [3]. There has been an explosion in the identification of genetic mutations causing SNHL: whole exome and whole genome sequencing currently takes weeks to months and remains costly; on the other hand, phenotypegenotype prediction based on imaging studies may help guide the clinician towards a more targeted gene panel. Advances in knowledge on the embryologic development of inner ear structures