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- Title
Familial large vestibular aqueduct syndrome.
- Authors
Griffith, Andrew J.; Arts, H. Alexander; Downs, Catherine; Innis, Jeffrey W.; Shepard, Neil T.; Sheldon, Susan; Gebarski, Stephen S.; Griffith, A J; Arts, A; Downs, C; Innis, J W; Shepard, N T; Sheldon, S; Gebarski, S S
- 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.
- Publication
Laryngoscope, 1996, Vol 106, Issue 8, p960
- ISSN
0023-852X
- Publication type
journal article
- DOI
10.1097/00005537-199608000-00009