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Atlantoaxial abnormality

MedGen UID:
871145
Concept ID:
C4025617
Anatomical Abnormality
HPO: HP:0003413

Definition

An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. [from HPO]

Professional guidelines

PubMed

Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, Martin BA, McGuire DE, McKelvey KD, Peterson M, Tyler C, Wells M, Whitten MS; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup
JAMA 2020 Oct 20;324(15):1543-1556. doi: 10.1001/jama.2020.17024. PMID: 33079159
Cohen SP
Mayo Clin Proc 2015 Feb;90(2):284-99. doi: 10.1016/j.mayocp.2014.09.008. PMID: 25659245
Charrow J, Alden TD, Breathnach CA, Frawley GP, Hendriksz CJ, Link B, Mackenzie WG, Manara R, Offiah AC, Solano ML, Theroux M
Mol Genet Metab 2015 Jan;114(1):11-8. Epub 2014 Oct 30 doi: 10.1016/j.ymgme.2014.10.010. PMID: 25496828

Recent clinical studies

Etiology

Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, Martin BA, McGuire DE, McKelvey KD, Peterson M, Tyler C, Wells M, Whitten MS; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup
JAMA 2020 Oct 20;324(15):1543-1556. doi: 10.1001/jama.2020.17024. PMID: 33079159
Huang PJ, Lin JH, Chiang YH
World Neurosurg 2020 Jun;138:e634-e641. Epub 2020 Mar 13 doi: 10.1016/j.wneu.2020.03.023. PMID: 32173550
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):195-211. Epub 2017 Feb 21 doi: 10.1002/ajmg.c.31549. PMID: 28220607
White KK, Sousa T
J Am Acad Orthop Surg 2013 Jan;21(1):12-22. doi: 10.5435/JAAOS-21-01-12. PMID: 23281467
Hayes A, Batshaw ML
Pediatr Clin North Am 1993 Jun;40(3):523-35. doi: 10.1016/s0031-3955(16)38548-0. PMID: 8493063

Diagnosis

Tsou AY, Bulova P, Capone G, Chicoine B, Gelaro B, Harville TO, Martin BA, McGuire DE, McKelvey KD, Peterson M, Tyler C, Wells M, Whitten MS; Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup
JAMA 2020 Oct 20;324(15):1543-1556. doi: 10.1001/jama.2020.17024. PMID: 33079159
Chatterjee S, Shivhare P, Verma SG
Childs Nerv Syst 2019 Oct;35(10):1755-1761. Epub 2019 Jul 13 doi: 10.1007/s00381-019-04284-z. PMID: 31302728
Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC
Am J Med Genet C Semin Med Genet 2017 Mar;175(1):195-211. Epub 2017 Feb 21 doi: 10.1002/ajmg.c.31549. PMID: 28220607
Cohen SP
Mayo Clin Proc 2015 Feb;90(2):284-99. doi: 10.1016/j.mayocp.2014.09.008. PMID: 25659245
Hayes A, Batshaw ML
Pediatr Clin North Am 1993 Jun;40(3):523-35. doi: 10.1016/s0031-3955(16)38548-0. PMID: 8493063

Therapy

Liu S, Liu B, Liang G, Chen Q, Wang H, Lin Y
J Orthop Surg Res 2022 Mar 28;17(1):183. doi: 10.1186/s13018-022-03077-6. PMID: 35346286Free PMC Article
Du YQ, Yin YH, Li T, Qiao GY, Yu XG
Eur Spine J 2021 Jun;30(6):1585-1595. Epub 2021 Mar 11 doi: 10.1007/s00586-021-06780-w. PMID: 33704580
Husnudinov RE, Ibrahim GM, Propst EJ, Wolter NE
Int J Pediatr Otorhinolaryngol 2018 Nov;114:36-43. Epub 2018 Aug 27 doi: 10.1016/j.ijporl.2018.08.029. PMID: 30262364
Elliott RE, Tanweer O, Boah A, Morsi A, Ma T, Frempong-Boadu A, Smith ML
J Spinal Disord Tech 2014 Feb;27(1):11-28. doi: 10.1097/BSD.0b013e318277da19. PMID: 23128387
Ahmed R, Traynelis VC, Menezes AH
Childs Nerv Syst 2008 Oct;24(10):1209-24. Epub 2008 Apr 4 doi: 10.1007/s00381-008-0607-7. PMID: 18389260

Prognosis

Rehman RU, Akhtar MS, Bibi A, Shah SM, Khan S, Kashif M
World Neurosurg 2022 Sep;165:27-44. Epub 2022 Jun 11 doi: 10.1016/j.wneu.2022.06.024. PMID: 35700863
Huang PJ, Lin JH, Chiang YH
World Neurosurg 2020 Jun;138:e634-e641. Epub 2020 Mar 13 doi: 10.1016/j.wneu.2020.03.023. PMID: 32173550
Cormier-Daire V
Best Pract Res Clin Rheumatol 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. PMID: 18328979
Rahimi SY, Stevens EA, Yeh DJ, Flannery AM, Choudhri HF, Lee MR
Neurosurg Focus 2003 Dec 15;15(6):ECP1. doi: 10.3171/foc.2003.15.6.7. PMID: 15305843
Hayes A, Batshaw ML
Pediatr Clin North Am 1993 Jun;40(3):523-35. doi: 10.1016/s0031-3955(16)38548-0. PMID: 8493063

Clinical prediction guides

Goel A, Vutha R, Shah A
Adv Tech Stand Neurosurg 2023;46:125-147. doi: 10.1007/978-3-031-28202-7_7. PMID: 37318573
Wang Y, Song C, Ji Y, Xia J, Chen C, Haque M, Zhuang J, Zhou C, Zu J, Li X, Yan J
World Neurosurg 2023 Mar;171:e1-e7. Epub 2022 Aug 29 doi: 10.1016/j.wneu.2022.08.108. PMID: 36049725
Liu S, Liu B, Liang G, Chen Q, Wang H, Lin Y
J Orthop Surg Res 2022 Mar 28;17(1):183. doi: 10.1186/s13018-022-03077-6. PMID: 35346286Free PMC Article
Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S
Mol Genet Metab 2013 Sep-Oct;110(1-2):54-64. Epub 2013 Apr 10 doi: 10.1016/j.ymgme.2013.04.002. PMID: 23665161Free PMC Article
Menezes AH
J Neurosurg Pediatr 2012 Jun;9(6):573-85. doi: 10.3171/2012.2.PEDS11371. PMID: 22656246

Recent systematic reviews

Sae-Huang M, Borg A, Hill CS
J Neurosurg Pediatr 2020 Oct 9;27(1):108-119. doi: 10.3171/2020.6.PEDS20396. PMID: 33036001
Wolfs JF, Arts MP, Peul WC
Adv Tech Stand Neurosurg 2014;41:143-56. doi: 10.1007/978-3-319-01830-0_7. PMID: 24309924
Onyewu O, Manchikanti L, Falco FJ, Singh V, Geffert S, Helm S 2nd, Cohen SP, Hirsch JA
Pain Physician 2012 Nov-Dec;15(6):E777-806. PMID: 23159976
Karkos PD, Benton J, Leong SC, Mushi E, Sivaji N, Assimakopoulos DA
Int J Pediatr Otorhinolaryngol 2007 Dec;71(12):1823-7. Epub 2007 Aug 13 doi: 10.1016/j.ijporl.2007.07.002. PMID: 17706297
Brockmeyer D
Pediatr Neurosurg 1999 Aug;31(2):71-7. doi: 10.1159/000028837. PMID: 10592475

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