Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports

被引：3

作者：

Williams, Lelia E. ^{[1
]}

Sohner, Mark T. ^{[1
]}

Sibley, Robert C., III ^{[1
]}

Pfeifer, Cory M. ^{[1
]}

机构：

[1] Univ Texas Southwestern Med Ctr Dallas, Dept Radiol, 5323 Harry Hines Blvd, Dallas, TX 75390 USA

来源：

ACTA RADIOLOGICA OPEN | 2019年 / 8卷 / 07期

关键词：

Branchio-oto-renal syndrome; cochlear dysplasia; magnetic resonance imaging; OTO-RENAL-SYNDROME;

D O I：

10.1177/2058460119861606

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Branchio-oto-renal syndrome is a rare genetic disorder that affects multiple organ systems. Temporal bone abnormalities include the unwound appearance of the cochlea which is common in this syndrome. This appearance can prompt renal imaging and evaluation. Presented here are two cases of branchio-oto-renal syndrome with dysplastic cochleae. A branchial cleft sinus and renal dysplasia were also present in one of the cases.

引用

页数：3

共 4 条

[1] Branchio-Oto-Renal syndrome:: The mutation spectrum in EYA1 and its phenotypic consequences [J].