Familial Enlarged Vestibular Aqueduct Syndrome (FEVAS) / 대한이비인후과학회지

ABSTRACT

The enlarged vestibular aqueduct syndrome (EVAS) is a clinical disease causing anatomical abnormality of bony canal in the temporal bone containing endolymphatic duct and sac. It is also associated with progressive sensorineural hearing loss with an isolated enlarged vestibular aqueduct. Familial inheritance of enlarged vestibular aqueduct syndrome (FEVAS) is rare and the correct mode of inheritance is not yet discovered. We studied familial inheritance in EVAS by performing clinical, audiological, radiographic and chromosomal analyses, and found strong indications that FEVAS may be an autosomal recessive trait. Further study would be focused on genetic evaluation of FEVAS.