FAMILIAL LARGE VESTIBULAR AQUEDUCT SYNDROME

The large vestibular aqueduct syndrome (LVAS) is a distinct clinical e ntity characterized by stepwise progressive sensorineural hearing loss associated with isolated enlargement of the vestibular aqueduct. A co rrelative clinical, audiologic, vestibular, cytogenetic, and radiograp hic analysis of a family with inherited LVAS was performed, The male p roband and his affected brother are offspring of unaffected parents, a nd have no other abnormalities. Pedigree analysis suggests autosomal r ecessive or X-linked inheritance with variable expressivity of LVAS in this family. This study is the first description of familial inherita nce of LVAS. LVAS may account for a significant number of patients wit h nonsyndromal, genetic sensorineural hearing loss. Future molecular a nalyses of this study family may identify the causative gene(s) in LVA S.