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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticleHead and Neck Imaging

Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the “Thorny” Cochlea

F. D’Arco, A. Biswas, E. Clement, K. Rajput and A.F. Juliano
American Journal of Neuroradiology January 2023, 44 (1) 79-81; DOI: https://doi.org/10.3174/ajnr.A7746
F. D’Arco
aFrom the Department of Radiology (F.D., A.B.)
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A. Biswas
aFrom the Department of Radiology (F.D., A.B.)
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E. Clement
bClinical Genetics (E.C.)
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K. Rajput
cAudiological Medicine (K.R.), Great Ormond Street Hospital for Children, National Health Service Foundation Trust, London, UK
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A.F. Juliano
dDepartment of Radiology (A.F.J.), Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts
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References

  1. 1.↵
    1. Sennaroglu L
    . Histopathology of inner ear malformations: do we have enough evidence to explain pathophysiology? Cochlear Implants Int 2016;17:3–20 doi:10.1179/1754762815Y.0000000016 pmid:26158591
    CrossRefPubMed
  2. 2.↵
    1. Quirk B,
    2. Youssef A,
    3. Ganau M, et al
    . Radiological diagnosis of the inner ear malformations in children with sensorineural hearing loss. BJR Open 2019;1:20180050 doi:10.1259/bjro.20180050 pmid:33178934
    CrossRefPubMed
  3. 3.↵
    1. Siddiqui A,
    2. D’Amico A,
    3. Colafati GS, et al
    . Hypothalamic malformations in patients with X-linked deafness and incomplete partition type 3. Neuroradiology 2019;61:949–52 doi:10.1007/s00234-019-02230-z pmid:31177298
    CrossRefPubMed
  4. 4.↵
    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
  5. 5.↵
    1. D’Arco F,
    2. Sanverdi E,
    3. O’Brien WT, et al
    . The link between inner ear malformations and the rest of the body: what we know so far about genetic, imaging and histology. Neuroradiology 2020;62:539–44 doi:10.1007/s00234-020-02382-3 pmid:32125475
    CrossRefPubMed
  6. 6.↵
    1. D’Arco F,
    2. Youssef A,
    3. Ioannidou E, et al
    . Temporal bone and intracranial abnormalities in syndromic causes of hearing loss: an updated guide. Eur J Radiol 2020;123:108803 doi:10.1016/j.ejrad.2019.108803 pmid:31891841
    CrossRefPubMed
  7. 7.↵
    1. Biedron S,
    2. Westhofen M,
    3. Ilgner J
    . On the number of turns in human cochleae. Otol Neurotol 2009;30:414–17 doi:10.1097/MAO.0b013e3181977b8d pmid:19225438
    CrossRefPubMed
  8. 8.↵
    1. Shim HJ,
    2. Shin JE,
    3. Chung JW, et al
    . Inner ear anomalies in cochlear implantees: importance of radiologic measurements in the classification. Otol Neurotol 2006;27:831–37 doi:10.1097/01.mao.0000227902.47483.ef pmid:16936569
    CrossRefPubMed
  9. 9.↵
    1. D’Arco F,
    2. Talenti G,
    3. Lakshmanan R, et al
    . Do measurements of inner ear structures help in the diagnosis of inner ear malformations? A review of literature. Otol Neurotol 2017;38:e384–92 doi:10.1097/MAO.0000000000001604 pmid:29065090
    CrossRefPubMed
  10. 10.↵
    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
  11. 11.↵
    1. Ruf RG,
    2. Xu PX,
    3. Silvius D, et al
    . SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A 2004;101:8090–95 doi:10.1073/pnas.0308475101 pmid:15141091
    Abstract/FREE Full Text
  12. 12.↵
    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
  13. 13.↵
    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
  14. 14.↵
    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
  15. 15.↵
    1. Robson CD
    . Congenital hearing impairment. Pediatr Radiol 2006;36:309–24 doi:10.1007/s00247-005-0042-9 pmid:16465539
    CrossRefPubMed
  16. 16.↵
    1. Zheng W,
    2. Huang L,
    3. Wei ZB, 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
  17. 17.↵
    1. Wortmann SB,
    2. Meunier B,
    3. Mestek-Boukhibar L, et al
    . Bi-allelic variants in TKFC encoding triokinase/FMN cyclase are associated with cataracts and multisystem disease. Am J Hum Genet 2020;106:256–63 doi:10.1016/j.ajhg.2020.01.005 pmid:32004446
    CrossRefPubMed
  18. 18.↵
    1. Manoussaki D,
    2. Chadwick RS,
    3. Ketten DR, et al
    . The influence of cochlear shape on low-frequency hearing. Proc Natl Acad Sci U S A 2008;105:6162–66 doi:10.1073/pnas.0710037105 pmid:18413615
    Abstract/FREE Full Text
  19. 19.↵
    1. Bertoli-Avella AM,
    2. Kandaswamy KK,
    3. Khan S, et al
    . Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. Genet Med 2021;23:1551–68 doi:10.1038/s41436-021-01159-0 pmid:33875846
    CrossRefPubMed
  20. 20.↵
    1. Scholz H,
    2. Franz M,
    3. Heberlein U
    . The hangover gene defines a stress pathway required for ethanol tolerance development. Nature 2005;436:845–47 doi:10.1038/nature03864 pmid:16094367
    CrossRefPubMed
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American Journal of Neuroradiology: 44 (1)
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F. D’Arco, A. Biswas, E. Clement, K. Rajput, A.F. Juliano
Subtle Malformation of the Cochlear Apex and Genetic Abnormalities: Beyond the “Thorny” Cochlea
American Journal of Neuroradiology Jan 2023, 44 (1) 79-81; DOI: 10.3174/ajnr.A7746

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Cochlear Apex Malformations and Genetics
F. D’Arco, A. Biswas, E. Clement, K. Rajput, A.F. Juliano
American Journal of Neuroradiology Jan 2023, 44 (1) 79-81; DOI: 10.3174/ajnr.A7746
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