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Incomplete partition of the cochlea type I

MedGen UID:
868977
Concept ID:
C4023391
Anatomical Abnormality
HPO: HP:0011374

Definition

Incomplete partition I is also known as cystic cochleovestibular malformation, where the cochlea has no bony modiolus, resulting in an empty cystic cochlea. This is accompanied by a dilated cystic vestibule with developmental arrest at the fifth week of gestation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncomplete partition of the cochlea type I

Professional guidelines

PubMed

Gao B, Jiang Y, Huang S, Wang Q, Gao X, Cai J, Dai P
Acta Otolaryngol 2019 Aug;139(8):665-670. Epub 2019 May 24 doi: 10.1080/00016489.2019.1612534. PMID: 31124731

Recent clinical studies

Etiology

Parlak S, Gumeler E, Sennaroglu L, Ozgen B
Diagn Interv Radiol 2022 Jan;28(1):50-57. doi: 10.5152/dir.2021.20791. PMID: 34914607
Hong R, Du Q, Pan Y
AJNR Am J Neuroradiol 2020 Jun;41(6):1076-1080. Epub 2020 May 28 doi: 10.3174/ajnr.A6576. PMID: 32467182Free PMC Article
Siddiqui A, D'Amico A, Colafati GS, Cicala D, Talenti G, Rajput K, Pinelli L, D'Arco F
Neuroradiology 2019 Aug;61(8):949-952. Epub 2019 Jun 8 doi: 10.1007/s00234-019-02230-z. PMID: 31177298
Verheij E, Elden L, Crowley TB, Pameijer FA, Zackai EH, McDonald-McGinn DM, Thomeer HGXM
AJNR Am J Neuroradiol 2018 May;39(5):928-934. Epub 2018 Mar 15 doi: 10.3174/ajnr.A5588. PMID: 29545254Free PMC Article
Kanno A, Mutai H, Namba K, Morita N, Nakano A, Ogahara N, Sugiuchi T, Ogawa K, Matsunaga T
Laryngoscope 2017 Jul;127(7):1663-1669. Epub 2016 Aug 31 doi: 10.1002/lary.26245. PMID: 27577114

Diagnosis

Weiss NM, Breitsprecher TM, Pscheidl A, Bächinger D, Volkenstein S, Dazert S, Mlynski R, Langner S, Roland P, Dhanasingh A
Eur Arch Otorhinolaryngol 2023 May;280(5):2155-2163. Epub 2022 Oct 10 doi: 10.1007/s00405-022-07681-4. PMID: 36216913Free PMC Article
Manara R, Avato I, Uberti A, Trevisi P, Bovo R, Martini A, Brotto D, Berettini S, Canzi P, Ciorba A, Cristofari E, Cuda D, Della Volpe A, Frau GN, Genovese E, Marsella P, Murri A, Sorrentino F, Vincenti V, Zanetti D; EU.COM Group
Otol Neurotol 2022 Jan 1;43(1):101-104. doi: 10.1097/MAO.0000000000003394. PMID: 34699400
Ahadizadeh E, Ascha M, Manzoor N, Gupta A, Semaan M, Megerian C, Otteson T
Am J Otolaryngol 2017 Nov-Dec;38(6):692-697. Epub 2017 Jun 23 doi: 10.1016/j.amjoto.2017.06.010. PMID: 28793961
Reinshagen KL, Curtin HD, Quesnel AM, Juliano AF
AJNR Am J Neuroradiol 2017 Oct;38(10):2003-2007. Epub 2017 Aug 3 doi: 10.3174/ajnr.A5335. PMID: 28775060Free PMC Article
Kontorinis G, Goetz F, Giourgas A, Lenarz T, Lanfermann H, Giesemann AM
Eur Radiol 2012 Mar;22(3):525-32. Epub 2011 Oct 1 doi: 10.1007/s00330-011-2301-5. PMID: 21965038

Therapy

Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S
J Med Genet 2020 Jun;57(6):389-399. Epub 2020 Feb 3 doi: 10.1136/jmedgenet-2019-106474. PMID: 32015000
Bajin MD, Pamuk AE, Pamuk G, Özgen B, Sennaroğlu L
Otol Neurotol 2018 Aug;39(7):e538-e542. doi: 10.1097/MAO.0000000000001871. PMID: 29995007
Verheij E, Elden L, Crowley TB, Pameijer FA, Zackai EH, McDonald-McGinn DM, Thomeer HGXM
AJNR Am J Neuroradiol 2018 May;39(5):928-934. Epub 2018 Mar 15 doi: 10.3174/ajnr.A5588. PMID: 29545254Free PMC Article
Booth TN, Wick C, Clarke R, Kutz JW, Medina M, Gorsage D, Xi Y, Isaacson B
AJNR Am J Neuroradiol 2018 May;39(5):923-927. Epub 2018 Mar 15 doi: 10.3174/ajnr.A5585. PMID: 29545247Free PMC Article
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E
Otol Neurotol 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. PMID: 27779564

Prognosis

Manara R, Avato I, Uberti A, Trevisi P, Bovo R, Martini A, Brotto D, Berettini S, Canzi P, Ciorba A, Cristofari E, Cuda D, Della Volpe A, Frau GN, Genovese E, Marsella P, Murri A, Sorrentino F, Vincenti V, Zanetti D; EU.COM Group
Otol Neurotol 2022 Jan 1;43(1):101-104. doi: 10.1097/MAO.0000000000003394. PMID: 34699400
Khurayzi T, Almuhawas F, Alsanosi A, Abdelsamad Y, Doyle Ú, Dhanasingh A
Sci Rep 2021 Apr 1;11(1):7339. doi: 10.1038/s41598-021-86741-x. PMID: 33795738Free PMC Article
Ahadizadeh E, Ascha M, Manzoor N, Gupta A, Semaan M, Megerian C, Otteson T
Am J Otolaryngol 2017 Nov-Dec;38(6):692-697. Epub 2017 Jun 23 doi: 10.1016/j.amjoto.2017.06.010. PMID: 28793961
Kanno A, Mutai H, Namba K, Morita N, Nakano A, Ogahara N, Sugiuchi T, Ogawa K, Matsunaga T
Laryngoscope 2017 Jul;127(7):1663-1669. Epub 2016 Aug 31 doi: 10.1002/lary.26245. PMID: 27577114
Kontorinis G, Goetz F, Giourgas A, Lenarz T, Lanfermann H, Giesemann AM
Eur Radiol 2012 Mar;22(3):525-32. Epub 2011 Oct 1 doi: 10.1007/s00330-011-2301-5. PMID: 21965038

Clinical prediction guides

Bałdyga N, Oziębło D, Gan N, Furmanek M, Leja ML, Skarżyński H, Ołdak M
Genes (Basel) 2023 Jan 28;14(2) doi: 10.3390/genes14020335. PMID: 36833263Free PMC Article
Sun J, Sun J
Int J Pediatr Otorhinolaryngol 2020 Apr;131:109890. Epub 2020 Jan 17 doi: 10.1016/j.ijporl.2020.109890. PMID: 31972382
Alballaa A, Aschendorff A, Arndt S, Hildenbrand T, Becker C, Hassepass F, Laszig R, Beck R, Speck I, Wesarg T, Ketterer MC
HNO 2020 Jan;68(Suppl 1):25-32. doi: 10.1007/s00106-019-00732-z. PMID: 31598773
Reinshagen KL, Curtin HD, Quesnel AM, Juliano AF
AJNR Am J Neuroradiol 2017 Oct;38(10):2003-2007. Epub 2017 Aug 3 doi: 10.3174/ajnr.A5335. PMID: 28775060Free PMC Article
Kanno A, Mutai H, Namba K, Morita N, Nakano A, Ogahara N, Sugiuchi T, Ogawa K, Matsunaga T
Laryngoscope 2017 Jul;127(7):1663-1669. Epub 2016 Aug 31 doi: 10.1002/lary.26245. PMID: 27577114

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