Bookmarks
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Branchiootorenal syndrome (BOR)
Synonyms
- Melnick-Fraser syndrome
Definitions
- Autosomal dominant syndrome
- Branchial anomalies/preauricular pits
- Ear anomalies
- Deafness
- Renal abnormalities
- Autosomal dominant syndrome
IMAGING
General Features
CT Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
- Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
- Williams LE et al: Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. Acta Radiol Open. 8(7):2058460119861606, 2019
- Traylor KS, et al: Inner ear anomalies in congenital hearing loss: imaging, genetics, & associated syndromes. Neurographics. 9(6):358-72, 2019
- Gettelfinger JD et al: Syndromic hearing loss: a brief review of common presentations and genetics. J Pediatr Genet. 7(1):1-8, 2018
- Hsu A et al: The unwound cochlea: a specific imaging marker of branchio-oto-renal syndrome. AJNR Am J Neuroradiol. 39(12):2345-9, 2018
- Song MH et al: Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. PLoS One. 8(6):e67236, 2013
- Johnston DR et al: Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies. Int J Pediatr Otorhinolaryngol. 75(10):1341-5, 2011
- Krug P et al: Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 32(2):183-90, 2011
- Orten DJ et al: Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat. 29(4):537-44, 2008
- Amin S et al: Incudomalleal joint formation: the roles of apoptosis, migration and downregulation. BMC Dev Biol. 7:134, 2007
- Kochhar A et al: Branchio-oto-renal syndrome. Am J Med Genet A. 143A(14):1671-8, 2007
- Propst EJ et al: Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope. 115(10):1855-62, 2005
- Chang EH et al: Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 23(6):582-9, 2004
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
TERMINOLOGY
Abbreviations
- Branchiootorenal syndrome (BOR)
Synonyms
- Melnick-Fraser syndrome
Definitions
- Autosomal dominant syndrome
- Branchial anomalies/preauricular pits
- Ear anomalies
- Deafness
- Renal abnormalities
- Autosomal dominant syndrome
IMAGING
General Features
CT Findings
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Reporting Tips
Selected References
- Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
- Williams LE et al: Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. Acta Radiol Open. 8(7):2058460119861606, 2019
- Traylor KS, et al: Inner ear anomalies in congenital hearing loss: imaging, genetics, & associated syndromes. Neurographics. 9(6):358-72, 2019
- Gettelfinger JD et al: Syndromic hearing loss: a brief review of common presentations and genetics. J Pediatr Genet. 7(1):1-8, 2018
- Hsu A et al: The unwound cochlea: a specific imaging marker of branchio-oto-renal syndrome. AJNR Am J Neuroradiol. 39(12):2345-9, 2018
- Song MH et al: Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. PLoS One. 8(6):e67236, 2013
- Johnston DR et al: Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies. Int J Pediatr Otorhinolaryngol. 75(10):1341-5, 2011
- Krug P et al: Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 32(2):183-90, 2011
- Orten DJ et al: Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat. 29(4):537-44, 2008
- Amin S et al: Incudomalleal joint formation: the roles of apoptosis, migration and downregulation. BMC Dev Biol. 7:134, 2007
- Kochhar A et al: Branchio-oto-renal syndrome. Am J Med Genet A. 143A(14):1671-8, 2007
- Propst EJ et al: Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope. 115(10):1855-62, 2005
- Chang EH et al: Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 23(6):582-9, 2004
