Familial large vestibular aqueduct syndrome.
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.
Griffith
A J
AJ
Department of Otolaryngology/Head and Neck Surgery, University of Michigan, Ann Arbor., USA.
Arts
A
A
Downs
C
C
Innis
J W
JW
Shepard
N T
NT
Sheldon
S
S
Gebarski
S S
SS
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*