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Familial Large Vestibular Aqueduct Syndrome
Author(s) -
Griffith Andrew J.,
Arts H. Alexander,
Downs Catherine,
Innis Jeffrey W.,
Shepard Neil T.,
Sheldon Susan,
Gebarski Stephen S.
Publication year - 1996
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1097/00005537-199608000-00009
Subject(s) - medicine , proband , vestibular aqueduct , sensorineural hearing loss , hearing loss , family history , audiology , genetics , gene , mutation , biology
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.