Familial large vestibular aqueduct syndrome.
Laryngoscope
; 106(8): 960-5, 1996 Aug.
Article
em En
| MEDLINE
| ID: mdl-8699909
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aqueduto Vestibular
/
Doenças Vestibulares
/
Perda Auditiva Neurossensorial
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Laryngoscope
Assunto da revista:
OTORRINOLARINGOLOGIA
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Estados Unidos