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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

Medical Care of Adults With Down Syndrome: A Clinical Guideline.
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
Epidemiology, diagnosis, and treatment of neck pain.
Cohen SP
Mayo Clin Proc 2015 Feb;90(2):284-99. doi: 10.1016/j.mayocp.2014.09.008. PMID: 25659245
Diagnostic evaluation, monitoring, and perioperative management of spinal cord compression in patients with Morquio syndrome.
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

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Akinci G, Alyaarubi S, Patni N, Alhashmi N, Al-Shidhani A, Prodam F, Gagne N, Babalola F, Al Senani A, Muniraj K, Elsayed SM, Beghini M, Saydam BO, Allawati M, Vaishnav MS, Can E, Simsir IY, Sorkina E, Dursun F, Kamrath C, Cavdar U, Chakraborty PP, Dogan OA, Al Hosin A, Al Maimani A, Comunoglu N, Hamed A, Huseinbegovic T, Scherer T, Curtis J, Brown RJ, Topaloglu H, Simha V, Wabitsch M, Tuysuz B, Oral EA, Akinci B, Garg A
Am J Med Genet A 2024 Jun;194(6):e63533. Epub 2024 Jan 17 doi: 10.1002/ajmg.a.63533. PMID: 38234231Free PMC Article
Medical Care of Adults With Down Syndrome: A Clinical Guideline.
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
Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
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
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V
Best Pract Res Clin Rheumatol 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. PMID: 18328979
Down syndrome.
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

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.
Akinci G, Alyaarubi S, Patni N, Alhashmi N, Al-Shidhani A, Prodam F, Gagne N, Babalola F, Al Senani A, Muniraj K, Elsayed SM, Beghini M, Saydam BO, Allawati M, Vaishnav MS, Can E, Simsir IY, Sorkina E, Dursun F, Kamrath C, Cavdar U, Chakraborty PP, Dogan OA, Al Hosin A, Al Maimani A, Comunoglu N, Hamed A, Huseinbegovic T, Scherer T, Curtis J, Brown RJ, Topaloglu H, Simha V, Wabitsch M, Tuysuz B, Oral EA, Akinci B, Garg A
Am J Med Genet A 2024 Jun;194(6):e63533. Epub 2024 Jan 17 doi: 10.1002/ajmg.a.63533. PMID: 38234231Free PMC Article
Medical Care of Adults With Down Syndrome: A Clinical Guideline.
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
Neurological and spinal manifestations of the Ehlers-Danlos syndromes.
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
Epidemiology, diagnosis, and treatment of neck pain.
Cohen SP
Mayo Clin Proc 2015 Feb;90(2):284-99. doi: 10.1016/j.mayocp.2014.09.008. PMID: 25659245
Down syndrome.
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

Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.
O'Connor FG, Leggit JC
FP Essent 2024 Sep;544:12-19. PMID: 39283673
Clinical Features of Kawasaki Disease With Atlantoaxial Rotatory Fixation.
Michihata N, Suzuki T, Honda A, Oka I, Yoshikawa T, Saito K, Matsui H, Fushimi K, Yasunaga H
Pediatr Infect Dis J 2022 Aug 1;41(8):626-630. Epub 2022 Jul 13 doi: 10.1097/INF.0000000000003571. PMID: 35544743
Subaxial lordosis loss and influence factors after posterior atlantoaxial fusion.
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
Iatrogenic neurological injury in children with trisomy 21.
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
Fusions at the craniovertebral junction.
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

Transoral Odontoidectomy - Our Experience in A Limited-Resource Setup.
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
Clinical Features of Kawasaki Disease With Atlantoaxial Rotatory Fixation.
Michihata N, Suzuki T, Honda A, Oka I, Yoshikawa T, Saito K, Matsui H, Fushimi K, Yasunaga H
Pediatr Infect Dis J 2022 Aug 1;41(8):626-630. Epub 2022 Jul 13 doi: 10.1097/INF.0000000000003571. PMID: 35544743
Miniplate-Augmented Interlaminar Fusion in C1-C2 Screwing.
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
Spondylo-epi-metaphyseal dysplasia.
Cormier-Daire V
Best Pract Res Clin Rheumatol 2008 Mar;22(1):33-44. doi: 10.1016/j.berh.2007.12.009. PMID: 18328979
Down syndrome.
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

Evolving Concepts of Craniovertebral and Spinal Instability.
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
Clinical and Radiographic Features of the Atlantoaxial Dislocation Associated With Kashin-Beck Disease.
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
Os odontoideum: diagnosis and role of imaging.
Wang Q, Dong S, Wang F
Surg Radiol Anat 2020 Feb;42(2):155-160. Epub 2019 Oct 15 doi: 10.1007/s00276-019-02351-3. PMID: 31616983
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA.
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
Craniocervical fusions in children.
Menezes AH
J Neurosurg Pediatr 2012 Jun;9(6):573-85. doi: 10.3171/2012.2.PEDS11371. PMID: 22656246

Recent systematic reviews

Systematic review of the nonsurgical management of atlantoaxial rotatory fixation in childhood.
Sae-Huang M, Borg A, Hill CS
J Neurosurg Pediatr 2021 Jan 1;27(1):108-119. Epub 2020 Oct 9 doi: 10.3171/2020.6.PEDS20396. PMID: 33036001
Juvenile chronic arthritis and the craniovertebral junction in the paediatric patient: review of the literature and management considerations.
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
An update of the appraisal of the accuracy and utility of cervical discography in chronic neck pain.
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
Grisel's syndrome in otolaryngology: a systematic review.
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
Down syndrome and craniovertebral instability. Topic review and treatment recommendations.
Brockmeyer D
Pediatr Neurosurg 1999 Aug;31(2):71-7. doi: 10.1159/000028837. PMID: 10592475

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