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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

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
Peng X, Chen L, Wan Y, Zou X
Spine (Phila Pa 1976) 2011 Sep 1;36(19):1528-31. doi: 10.1097/BRS.0b013e3181f804ff. PMID: 21270707

Recent clinical studies

Etiology

Klekamp J
Neurosurg Focus 2023 Mar;54(3):E11. doi: 10.3171/2022.12.FOCUS22623. PMID: 36857784
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
Jian Q, Zhang B, Jian F, Bo X, Chen Z
World Neurosurg 2022 Aug;164:e629-e635. Epub 2022 May 14 doi: 10.1016/j.wneu.2022.05.027. PMID: 35577208
Baysal B, Eser MB, Sorkun M
J Neuroradiol 2022 Jan;49(1):33-40. Epub 2020 Sep 11 doi: 10.1016/j.neurad.2020.08.005. PMID: 32926897
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

Diagnosis

Baysal B, Eser MB, Sorkun M
J Neuroradiol 2022 Jan;49(1):33-40. Epub 2020 Sep 11 doi: 10.1016/j.neurad.2020.08.005. PMID: 32926897
Siddiqui A, Connor SEJ
Neuroimaging Clin N Am 2021 Nov;31(4):621-647. doi: 10.1016/j.nic.2021.06.004. PMID: 34689936
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
Pinter NK, McVige J, Mechtler L
Curr Pain Headache Rep 2016 Aug;20(8):49. doi: 10.1007/s11916-016-0580-x. PMID: 27344347
Jain VK
Neurol India 2012 Jan-Feb;60(1):9-17. doi: 10.4103/0028-3886.93582. PMID: 22406773

Therapy

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
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
Chandra PS, Kumar A, Chauhan A, Ansari A, Mishra NK, Sharma BS
Neurosurgery 2013 Jun;72(6):1040-53; discussion 1053. doi: 10.1227/NEU.0b013e31828bf342. PMID: 23426148
D'Urso PS, Askin G, Earwaker JS, Merry GS, Thompson RG, Barker TM, Effeney DJ
Spine (Phila Pa 1976) 1999 Jun 15;24(12):1247-51. doi: 10.1097/00007632-199906150-00013. PMID: 10382253

Prognosis

Sen RD, Martinez V, Eaton J, Holdefer RN, Ellenbogen RG
Neurosurg Focus 2023 Mar;54(3):E9. doi: 10.3171/2022.12.FOCUS22632. PMID: 36857781
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
Bianchi F, Benato A, Frassanito P, Tamburrini G, Massimi L
Childs Nerv Syst 2021 Oct;37(10):3093-3104. Epub 2021 Jun 25 doi: 10.1007/s00381-021-05193-w. PMID: 34169386Free PMC Article
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

Clinical prediction guides

Zhu H, Xu R, Wang S, Xia H, Yan Y, Xia Y
World Neurosurg 2023 Jul;175:e1017-e1024. Epub 2023 Apr 21 doi: 10.1016/j.wneu.2023.04.064. PMID: 37087038
Bianchi F, Benato A, Frassanito P, Tamburrini G, Massimi L
Childs Nerv Syst 2021 Oct;37(10):3093-3104. Epub 2021 Jun 25 doi: 10.1007/s00381-021-05193-w. PMID: 34169386Free PMC Article
Park JH, Hong JT, Lee JB, Kim IS
World Neurosurg 2019 Nov;131:e108-e115. Epub 2019 Jul 16 doi: 10.1016/j.wneu.2019.07.080. PMID: 31323410
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
Klekamp J
Eur Spine J 2014 Aug;23(8):1656-65. Epub 2014 Jun 18 doi: 10.1007/s00586-014-3423-7. PMID: 24938181

Recent systematic reviews

Coca HA, Ganau M, Todeschi J, Mallereau CH, Zaed I, Djennaoui I, Debry C, Proust F, Chibbaro S
Neurochirurgie 2023 Jul;69(4):101445. Epub 2023 Apr 13 doi: 10.1016/j.neuchi.2023.101445. PMID: 37061181
Palmisciano P, Al Fawares Y, Woodhouse C, Yang G, Xu A, d'Herbemont S, Hoang S, McGuire JL, Phillips KM, Cheng J, Forbes JA
World Neurosurg 2022 Nov;167:165-175.e2. Epub 2022 Aug 29 doi: 10.1016/j.wneu.2022.08.105. PMID: 36049722
Atchley TJ, Alford EN, Rocque BG
Childs Nerv Syst 2020 Mar;36(3):525-534. Epub 2019 Nov 7 doi: 10.1007/s00381-019-04398-4. PMID: 31701278
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

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