title: Familial enlarged vestibular aqueduct syndrome.
abstract: Enlarged vestibular aqueduct syndrome is a clinical disease entity associated with anatomic abnormality of the bony canal in the temporal bone containing the endolymphatic duct and sac. The definition of this syndrome is progressive sensorineural hearing loss with an isolated enlarged vestibular aqueduct. Familial inheritance of enlarged vestibular aqueduct syndrome is rare, and the correct mode of inheritance has not been discovered. This report is the study of familial inheritance with enlarged vestibular aqueduct syndrome. Clinical audiological, radiographic, and chromosomal analyses were performed in this case, which reports on two female probands who are offspring of normal parents. According to the study of pedigree, familial inheritance of enlarged vestibular aqueduct syndrome is strongly suspected as an autosomal recessive trait. Further study should be focused on discovering the genetic evaluation of familial inheritance of enlarged vestibular aqueduct syndrome.
authors.affiliation: Department of Otolaryngology, College of Medicine, Pusan National University, Pusan, Korea.
authors.forename: E K
authors.initials: EK
authors.lastname: Goh
authors.forename: W Y
authors.initials: WY
authors.lastname: Shim
authors.forename: H J
authors.initials: HJ
authors.lastname: Roh
authors.forename: S G
authors.initials: SG
authors.lastname: Wang
authors.forename: K M
authors.initials: KM
authors.lastname: Chon
mesh_terms: D000328:Adult; D005260:Female; D005808:Genes, Recessive; D030342:Genetic Diseases, Inborn; D006319:Hearing Loss, Sensorineural / Q000209:etiology* / Q000235:genetics; D006801:Humans; D010375:Pedigree; D013577:Syndrome; D013701:Temporal Bone / Q000002:abnormalities*; D014723:Vestibular Aqueduct / Q000002:abnormalities*