Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH

被引：1

作者：

Amrhein, P. ^{[1
]}

Sittel, C. ^{[1
]}

Spaich, C. ^{[2
]}

Kohlhase, J. ^{[3
]}

Boppert, R. ^{[4
]}

Kohlhof, P. ^{[5
]}

Koitschev, A. ^{[1
]}

机构：

[1] Klinikum Stuttgart, Klin Hals Nasen Ohrenkrankheiten, Stuttgart, Germany

[2] Klinikum Stuttgart, Inst Klin Genet, Stuttgart, Germany

[3] Praxis Humangenet, Freiburg, Germany

[4] Klinikum Stuttgart, Funkt Bereich Padaudiol & Phoniatrie, Stuttgart, Germany

[5] Klinikum Stuttgart, Inst Pathol, Stuttgart, Germany

来源：

HNO | 2014年 / 62卷 / 05期

关键词：

Branchio-oto-renal syndrome; Salivary gland; Choristoma; Hearing loss; Comparative genomic hybridization; BOR;

D O I：

10.1007/s00106-013-2728-x

中图分类号：

R76 [耳鼻咽喉科学];

学科分类号：

100213 ;

摘要：

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.

引用

页码：374 / 377

页数：4

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