title: Familial large vestibular aqueduct syndrome.
abstract: The large vestibular aqueduct syndrome (LVAS) is a distinct clinical entity characterized by stepwise progressive sensorineural hearing loss associated with isolated enlargement of the vestibular aqueduct. A correlative clinical, audiologic, vestibular, cytogenetic, and radiographic analysis of a family with inherited LVAS was performed. The male proband and his affected brother are offspring of unaffected parents, and have no other abnormalities. Pedigree analysis suggests autosomal recessive or X-linked inheritance with variable expressivity of LVAS in this family. This study is the first description of familial inheritance of LVAS. LVAS may account for a significant number of patients with nonsyndromal, genetic sensorineural hearing loss. Future molecular analyses of this study family may identify the causative gene(s) in LVAS.
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor., USA.
authors.forename: A J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: A
authors.initials: A
authors.lastname: Arts
authors.forename: C
authors.initials: C
authors.lastname: Downs
authors.forename: J W
authors.initials: JW
authors.lastname: Innis
authors.forename: N T
authors.initials: NT
authors.lastname: Shepard
authors.forename: S
authors.initials: S
authors.lastname: Sheldon
authors.forename: S S
authors.initials: SS
authors.lastname: Gebarski
mesh_terms: D000328:Adult; D001302:Audiometry, Speech; D002648:Child; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014723:Vestibular Aqueduct / Q000000981:diagnostic imaging; D015837:Vestibular Diseases / Q000000981:diagnostic imaging / Q000235:genetics*