The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns

References

1. 1.↵
   1. Melnick M,
   2. Bixler D,
   3. Nance WE, et al

   . Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes. Clin Genet 1976;9:25–34 doi:10.1111/j.1399-0004.1976.tb01546.x pmid:1248162

   CrossRefPubMedWeb of Science
2. 2.↵
   1. Ostri B,
   2. Johnsen T,
   3. Bergmann I

   . Temporal bone findings in a family with branchio-oto-renal syndrome (BOR). Clin Otolaryngol Allied Sci 1991;16:163–67 doi:10.1111/j.1365-2273.1991.tb01969.x pmid:2070534

   CrossRefPubMed
3. 3.↵
   1. Robson CD

   . Congenital hearing impairment. Pediatr Radiol 2006;36:309–24 doi:10.1007/s00247-005-0042-9 pmid:16465539

   CrossRefPubMed
4. 4.↵
   1. Hsu A,
   2. Desai N,
   3. Paldino MJ

   . The unwound cochlea: a specific imaging marker of branchio-oto-renal syndrome. AJNR Am J Neuroradiol 2018;39:2345–49 doi:10.3174/ajnr.A5856 pmid:30385470

   Abstract/FREE Full Text
5. 5.↵
   1. Pao J,
   2. D’Arco F,
   3. Clement E, et al

   . Re-examining the cochlea in branchio-oto-renal syndrome: genotype-phenotype correlation. AJNR Am J Neuroradiol 2022;43:309–14 doi:10.3174/ajnr.A7396 pmid:35058298

   Abstract/FREE Full Text
6. 6.↵
   1. Propst EJ,
   2. Blaser S,
   3. Gordon KA, et al

   . Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope 2005;11510:1855–62 doi:10.1097/01.mlg.0000177032.98386.20 pmid:16222209

   CrossRefPubMed
7. 7.↵
   1. Adam MP,
   2. Ardinger HH,
   3. Pagon RA

   1. Smith RJ

   . Branchiootorenal spectrum disorder. In: Adam MP, Ardinger HH, Pagon RA eds. GeneReviews. University of Washington, Seattle; 1993
8. 8.↵
   1. Fitch N,
   2. Lindsay JR,
   3. Srolovitz H

   . The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. Ann Otol Rhinol Laryngol 1976;85:268–75 doi:10.1177/000348947608500212 pmid:1083706

   CrossRefPubMed
9. 9.↵
   1. Chen A,
   2. Francis M,
   3. Ni L, et al

   . Phenotypic manifestations of branchio-oto-renal syndrome. Am J Med Genet 1995;58:365–70 doi:10.1002/ajmg.1320580413 pmid:8533848

   CrossRefPubMedWeb of Science
10. 10.↵
    1. Kim N,
    2. Steele CR,
    3. Puria S

    . The importance of the hook region of the cochlea for bone-conduction hearing. Biophys J 2014;107:233–41 doi:10.1016/j.bpj.2014.04.052 pmid:24988357

    CrossRefPubMed
11. 11.↵
    1. Atturo F,
    2. Barbara M,
    3. Rask-Andersen H

    . On the anatomy of the “hook” region of the human cochlea and how it relates to cochlear implantation. Audiol Neurootol 2014;19:378–85 doi:10.1159/000365585 pmid:25377867

    CrossRefPubMed
12. 12.↵
    1. Kreutzer JS,
    2. DeLuca J,
    3. Caplan B

    1. Lange RT

    . Inter-rater reliability. In: Kreutzer JS, DeLuca J, Caplan B, eds. Encyclopedia of Clinical Neuropsychology. Springer; 2011:1348
13. 13.↵
    1. Kreutzer JS,
    2. DeLuca J,
    3. Caplan B

    1. Kreutzer JS,
    2. DeLuca J,
    3. Caplan B

    , eds. Inter-rater agreement. In: Kreutzer JS, DeLuca J, Caplan B, eds. Encyclopedia of Clinical Neuropsychology. Springer; 2011:1348
14. 14.↵
    1. Sennaroglu L

    . Histopathology of inner ear malformations: do we have enough evidence to explain pathophysiology? Cochlear Implants Int 2016;171:3–20 doi:10.1179/1754762815Y.0000000016 pmid:26158591

    CrossRefPubMed
15. 15.↵
    1. Talenti G,
    2. Manara R,
    3. Brotto D, et al

    . High-resolution 3 T magnetic resonance findings in cochlear hypoplasias and incomplete partition anomalies: a pictorial essay. Br J Radiol 2018;91:20180120 doi:10.1259/bjr.20180120 pmid:29688748

    CrossRefPubMed
16. 16.↵
    1. Kochhar A,
    2. Orten DJ,
    3. Sorensen JL, et al

    . SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Hum Mutat 2008;294:565 doi:10.1002/humu.20714 pmid:18330911

    CrossRefPubMed
17. 17.
    1. Sanggaard KM,
    2. Rendtorff ND,
    3. Kjaer KW, et al

    . Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet 2007;15:1121–31 doi:10.1038/sj.ejhg.5201900 pmid:17637804

    CrossRefPubMedWeb of Science
18. 18.
    1. Krug P,
    2. Morinière V,
    3. Marlin S, 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 2011;32:183–90 doi:10.1002/humu.21402 pmid:21280147

    CrossRefPubMed
19. 19.↵
    1. Unzaki A,
    2. Morisada N,
    3. Nozu K, et al

    . Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome. J Hum Genet 2018;63:647–56 doi:10.1038/s10038-018-0429-8 pmid:29500469

    CrossRefPubMed
20. 20.↵
    1. Zheng W,
    2. Huang L,
    3. Wei Z-B, et al

    . The role of SIX1 in mammalian auditory system development. Development 2003;130:3989–4000 doi:10.1242/dev.00628 pmid:12874121

    Abstract/FREE Full Text
21. 21.↵
    1. Chatterjee S,
    2. Kraus P,
    3. Lufkin T

    . A symphony of inner ear developmental control genes. BMC Genet 2010;11:68 doi:10.1186/1471-2156-11-68 pmid:20637105

    CrossRefPubMed
22. 22.↵
    1. Talenti G,
    2. Robson C,
    3. Severino MS, et al

    . Characteristic cochlear hypoplasia in patients with Walker-Warburg syndrome: a radiologic study of the inner ear in α-Dystroglycan-related muscular disorders. AJNR Am J Neuroradiol 2021;42:167–72 doi:10.3174/ajnr.A6858 pmid:33122211

    Abstract/FREE Full Text
23. 23.↵
    1. Som PM,
    2. Curtin HD,
    3. Liu K, et al

    . Current embryology of the temporal bone, part I: the inner ear. Neurographic 2016;6:250–65 doi:10.3174/ng.4160166

    CrossRef