title: [Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH].
abstract: Branchio-oto-renal (BOR) syndrome is characterized by ear malformations associated with sensorineural or mixed hearing loss. In addition, preauricular tags, preauricular pits, branchial cleft fistulas and cysts, as well as renal dysplasia are seen. A genetic mutation on chromosome 8, either autosomal dominantly inherited or occuring as a spontaneous mutation, is the cause in the majority of cases. Using array-based comparative genomic hybridization (CGH), it is possible to detect even the smallest genetic changes. Salivary gland choristoma in the middle ear is very rare. Surgical removal and histological clarification are required.
authors.affiliation: Klinik für Hals- Nasen- Ohrenkrankheiten, Plastische Operationen, Klinikum Stuttgart, Stuttgart, Deutschland.
authors.forename: P
authors.initials: P
authors.lastname: Amrhein
authors.forename: C
authors.initials: C
authors.lastname: Sittel
authors.forename: C
authors.initials: C
authors.lastname: Spaich
authors.forename: J
authors.initials: J
authors.lastname: Kohlhase
authors.forename: R
authors.initials: R
authors.lastname: Boppert
authors.forename: P
authors.initials: P
authors.lastname: Kohlhof
authors.forename: A
authors.initials: A
authors.lastname: Koitschev
mesh_terms: D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics* / Q000601:surgery; D002828:Choristoma / Q000235:genetics* / Q000601:surgery; D055028:Comparative Genomic Hybridization / Q000379:methods*; D004427:Ear Diseases / Q000235:genetics* / Q000601:surgery; D004432:Ear, Middle / Q000601:surgery*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D012469:Salivary Glands / Q000601:surgery*; D016896:Treatment Outcome