U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Basilar invagination

MedGen UID:
854597
Concept ID:
C3887851
Congenital Abnormality
HPO: HP:0012366

Definition

Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). [from HPO]

Conditions with this feature

Ophthalmoplegia, external, with rib and vertebral anomalies
MedGen UID:
1648445
Concept ID:
C4748418
Disease or Syndrome
External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies (Di Gioia et al., 2018).
Atelis syndrome 1
MedGen UID:
1824054
Concept ID:
C5774281
Disease or Syndrome
Atelis syndrome-1 (ATELS1) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay with learning difficulties and poor overall growth with short stature and microcephaly. Most patients have anemia, some have immunologic defects, and some have congenital heart septal defects. More variable features may include hypotonia, dysmorphic facial features, skin pigmentary anomalies, and mild skeletal defects. Patient cells show multiple chromosomal abnormalities due to impaired DNA replication and disrupted mitosis (Grange et al., 2022). See also ATELS2 (620185), caused by mutation in the SMC5 gene (609386) on chromosome 9q21. For a discussion of genetic heterogeneity of MVA, see MVA1 (257300).

Professional guidelines

PubMed

Yadav V, Pandey N, Sahu A, Prasad RS
Turk Neurosurg 2024;34(5):898-906. doi: 10.5137/1019-5149.JTN.45091-23.2. PMID: 39087299
Ravindra VM, Brockmeyer DL
Neurosurg Clin N Am 2023 Jan;34(1):143-150. Epub 2022 Nov 3 doi: 10.1016/j.nec.2022.08.009. PMID: 36424054
Brockmeyer DL, Spader HS
Neurosurg Clin N Am 2015 Oct;26(4):555-60. Epub 2015 Aug 4 doi: 10.1016/j.nec.2015.06.002. PMID: 26408065

Recent clinical studies

Etiology

Ravindra VM, Brockmeyer DL
Neurosurg Clin N Am 2023 Jan;34(1):143-150. Epub 2022 Nov 3 doi: 10.1016/j.nec.2022.08.009. PMID: 36424054
Rennert RC, Stephens ML, Palmer AW, Rodriguez A, Kazemi N, Morris TW 3rd, Pait TG, Day JD
Acta Neurochir (Wien) 2022 Oct;164(10):2563-2572. Epub 2022 Jul 22 doi: 10.1007/s00701-022-05312-9. PMID: 35867183
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
Brockmeyer DL, Spader HS
Neurosurg Clin N Am 2015 Oct;26(4):555-60. Epub 2015 Aug 4 doi: 10.1016/j.nec.2015.06.002. PMID: 26408065
Klimo P Jr, Rao G, Brockmeyer D
Neurosurg Clin N Am 2007 Jul;18(3):463-78. doi: 10.1016/j.nec.2007.04.005. PMID: 17678749

Diagnosis

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
Ridder T, Anderson RC, Hankinson TC
Neurosurg Clin N Am 2015 Oct;26(4):571-8. Epub 2015 Aug 4 doi: 10.1016/j.nec.2015.06.011. PMID: 26408067
Brockmeyer DL, Spader HS
Neurosurg Clin N Am 2015 Oct;26(4):555-60. Epub 2015 Aug 4 doi: 10.1016/j.nec.2015.06.002. PMID: 26408065
Jain VK
Neurol India 2012 Jan-Feb;60(1):9-17. doi: 10.4103/0028-3886.93582. PMID: 22406773
Klimo P Jr, Rao G, Brockmeyer D
Neurosurg Clin N Am 2007 Jul;18(3):463-78. doi: 10.1016/j.nec.2007.04.005. PMID: 17678749

Therapy

Joaquim AF, Evangelista Santos Barcelos AC, Daniel JW, Botelho RV
World Neurosurg 2023 May;173:e364-e370. Epub 2023 Feb 21 doi: 10.1016/j.wneu.2023.02.057. PMID: 36822399
Singh DK, Pathak VV, Singh N, Kaif M, Yadav K, Kumar R
Neurol India 2022 Sep-Oct;70(Supplement):S123-S128. doi: 10.4103/0028-3886.360909. PMID: 36412358
Zheng WJ, Li LM, Lin SH
Br J Neurosurg 2020 Jun;34(3):321-323. Epub 2020 Jan 24 doi: 10.1080/02688697.2020.1716941. PMID: 31975622
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
Chevalier X, Larget-Piet B
Curr Opin Rheumatol 1994 May;6(3):311-8. doi: 10.1097/00002281-199405000-00012. PMID: 8060768

Prognosis

Qi M, Du Y, Zhang B, Meng H, Jin T, Xin Z, Zhang C, Wang J, Yu J, Bai X, Duan W, Chen Z
Neurosurg Rev 2024 Nov 30;47(1):879. doi: 10.1007/s10143-024-03103-7. PMID: 39614995
Aripirala P, Reddy N, Lingappa L, Konanki R, Varma DR, Raju S
Dev Med Child Neurol 2023 Jun;65(6):847-854. Epub 2022 Nov 15 doi: 10.1111/dmcn.15462. PMID: 36380707
Aldahak N, Richter B, Bemora JS, Keller JT, Froelich S, Abdel Aziz KM
Pan Afr Med J 2017;27:277. Epub 2017 Aug 14 doi: 10.11604/pamj.2017.27.277.12220. PMID: 29187946Free PMC Article
Klekamp J
Eur Spine J 2014 Aug;23(8):1656-65. Epub 2014 Jun 18 doi: 10.1007/s00586-014-3423-7. PMID: 24938181
Chevalier X, Larget-Piet B
Curr Opin Rheumatol 1994 May;6(3):311-8. doi: 10.1097/00002281-199405000-00012. PMID: 8060768

Clinical prediction guides

Qi M, Du Y, Zhang B, Meng H, Jin T, Xin Z, Zhang C, Wang J, Yu J, Bai X, Duan W, Chen Z
Neurosurg Rev 2024 Nov 30;47(1):879. doi: 10.1007/s10143-024-03103-7. PMID: 39614995
Onodera R, Sakamoto R, Taniguchi Y, Hirai S, Matsubayashi Y, Kato S, Oshima Y, Tanaka S
Skeletal Radiol 2023 Sep;52(9):1785-1789. Epub 2023 Feb 11 doi: 10.1007/s00256-023-04297-5. PMID: 36773086Free PMC Article
Nascimento JJC, Silva LM, Ribeiro ECO, Neto EJS, Araújo-Neto SA, Diniz PRB
World Neurosurg 2021 Aug;152:121-123. Epub 2021 Jun 12 doi: 10.1016/j.wneu.2021.06.028. PMID: 34129970
Klekamp J
Eur Spine J 2014 Aug;23(8):1656-65. Epub 2014 Jun 18 doi: 10.1007/s00586-014-3423-7. PMID: 24938181
Chevalier X, Larget-Piet B
Curr Opin Rheumatol 1994 May;6(3):311-8. doi: 10.1097/00002281-199405000-00012. PMID: 8060768

Recent systematic reviews

Barrie U, Tao J, Azam F, Kenfack YJ, Lout E, Oduguwa E, Rail B, Naik A, Jenkins A, Smith P, O'Leary S, Ranganathan S, Reimer C, Elguindy M, Caruso JP, Hall K, Al Tamimi M, Aoun SG, Bagley CA
World Neurosurg 2024 Sep;189:323-338.e25. Epub 2024 May 9 doi: 10.1016/j.wneu.2024.04.174. PMID: 38729521
Joaquim AF, Evangelista Santos Barcelos AC, Daniel JW, Botelho RV
World Neurosurg 2023 May;173:e364-e370. Epub 2023 Feb 21 doi: 10.1016/j.wneu.2023.02.057. PMID: 36822399
de Oliveira Sousa U, de Oliveira MF, Heringer LC, Barcelos ACES, Botelho RV
Neurosurg Rev 2018 Jan;41(1):311-321. Epub 2017 May 2 doi: 10.1007/s10143-017-0857-5. PMID: 28466256
Shriver MF, Kshettry VR, Sindwani R, Woodard T, Benzel EC, Recinos PF
Clin Neurol Neurosurg 2016 Sep;148:121-9. Epub 2016 Jul 11 doi: 10.1016/j.clineuro.2016.07.019. PMID: 27442001
Fang CH, Friedman R, Schild SD, Goldstein IM, Baredes S, Liu JK, Eloy JA
Int Forum Allergy Rhinol 2015 Aug;5(8):754-60. Epub 2015 May 5 doi: 10.1002/alr.21537. PMID: 25946171

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...