Familial large vestibular aqueduct syndrome.

AJ Griffith, A Arts, C Downs, JW Innis… - The …, 1996 - europepmc.org
AJ Griffith, A Arts, C Downs, JW Innis, NT Shepard, S Sheldon, SS Gebarski
The Laryngoscope, 1996europepmc.org
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 …
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.
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