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Absent cervical vertebra

MedGen UID:
1373517
•Concept ID:
C4477020
•
Congenital Abnormality
HPO: HP:0031175

Definition

A developmental defect characterized by agenesis of one or more vertebral bodies of the cervical spine. [from HPO]

Professional guidelines

PubMed

Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray.
Ceylaner S, Ceylaner G, Altun M, Coşkun A, Danisman N
Genet Couns 2009;20(2):189-93. PMID: 19650417
Diagnosis and management of adult pyogenic osteomyelitis of the cervical spine.
Acosta FL Jr, Chin CT, Quiñones-Hinojosa A, Ames CP, Weinstein PR, Chou D
Neurosurg Focus 2004 Dec 15;17(6):E2. doi: 10.3171/foc.2004.17.6.2. PMID: 15636572

Recent clinical studies

Etiology

Postoperative C5 Palsy after Anterior or Posterior Decompression for Degenerative Cervical Myelopathy: A Subgroup Analysis of the Multicenter, Prospective, Randomized, Phase III, CSM-Protect Clinical Trial.
Bak AB, Moghaddamjou A, Alvi M, Ahn H, Farhadi HF, Shaffrey CI, Nassr A, Mummaneni P, Arnold PM, Jacobs WB, Riew KD, Kelly M, Brodke DS, Vaccaro AR, Hilibrand AS, Wilson J, Harrop JS, Yoon ST, Kim KD, Fourney DR, Santaguida C, Massicotte EM, Kopjar B, Fehlings MG
Spine (Phila Pa 1976) 2024 Oct 15;49(20):1410-1416. Epub 2024 Apr 15 doi: 10.1097/BRS.0000000000005007. PMID: 38616732
Neck Pain, Preoperative Opioids, and Functionality After Cervical Fusion.
Faour M, Anderson JT, Haas AR, Percy R, Woods ST, Ahn UM, Ahn NU
Orthopedics 2017 Jan 1;40(1):25-32. Epub 2016 Oct 18 doi: 10.3928/01477447-20161013-02. PMID: 27755643
C1-C2 pigmented villonodular synovitis and clear cell carcinoma: unexpected presentation of a rare disease and a review of the literature.
Lavrador JP, Oliveira E, Gil N, Francisco AF, Livraghi S
Eur Spine J 2015 May;24 Suppl 4:S465-71. Epub 2014 Jun 8 doi: 10.1007/s00586-014-3396-6. PMID: 24908254
Anomalous vertebral artery in craniovertebral junction with occipitalization of the atlas.
Wang S, Wang C, Liu Y, Yan M, Zhou H
Spine (Phila Pa 1976) 2009 Dec 15;34(26):2838-42. doi: 10.1097/BRS.0b013e3181b4fb8b. PMID: 20010391
C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome.
Konen O, Armstrong D, Clarke H, Padfield N, Weksberg R, Blaser S
Pediatr Radiol 2008 Jul;38(7):766-71. Epub 2008 May 31 doi: 10.1007/s00247-008-0903-0. PMID: 18516601

Diagnosis

Spinal intradural extramedullary cavernous hemangioma.
Pétillon P, Wilms G, Raftopoulos C, Duprez T
Neuroradiology 2018 Oct;60(10):1085-1087. Epub 2018 Aug 8 doi: 10.1007/s00234-018-2073-6. PMID: 30090980
Cervical pedicular agenesis: Case report and a review of the literature.
Ferracci FX, Dudoit T, Gilard V, Perez A, Lucas F
Neurochirurgie 2017 Sep;63(4):323-326. Epub 2017 Sep 4 doi: 10.1016/j.neuchi.2017.04.003. PMID: 28882605
Cervicothoracic cystic dysraphism.
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
C1-C2 pigmented villonodular synovitis and clear cell carcinoma: unexpected presentation of a rare disease and a review of the literature.
Lavrador JP, Oliveira E, Gil N, Francisco AF, Livraghi S
Eur Spine J 2015 May;24 Suppl 4:S465-71. Epub 2014 Jun 8 doi: 10.1007/s00586-014-3396-6. PMID: 24908254
Sleep attacks--apparent relationship to atlantoaxial dislocation.
Hall CW, Danoff D
Arch Neurol 1975 Jan;32(1):57-8. doi: 10.1001/archneur.1975.00490430079016. PMID: 1115663

Therapy

Postoperative C5 Palsy after Anterior or Posterior Decompression for Degenerative Cervical Myelopathy: A Subgroup Analysis of the Multicenter, Prospective, Randomized, Phase III, CSM-Protect Clinical Trial.
Bak AB, Moghaddamjou A, Alvi M, Ahn H, Farhadi HF, Shaffrey CI, Nassr A, Mummaneni P, Arnold PM, Jacobs WB, Riew KD, Kelly M, Brodke DS, Vaccaro AR, Hilibrand AS, Wilson J, Harrop JS, Yoon ST, Kim KD, Fourney DR, Santaguida C, Massicotte EM, Kopjar B, Fehlings MG
Spine (Phila Pa 1976) 2024 Oct 15;49(20):1410-1416. Epub 2024 Apr 15 doi: 10.1097/BRS.0000000000005007. PMID: 38616732
Neck Pain, Preoperative Opioids, and Functionality After Cervical Fusion.
Faour M, Anderson JT, Haas AR, Percy R, Woods ST, Ahn UM, Ahn NU
Orthopedics 2017 Jan 1;40(1):25-32. Epub 2016 Oct 18 doi: 10.3928/01477447-20161013-02. PMID: 27755643
Palsies of the fifth cervical nerve root after cervical decompression: prevention using continuous intraoperative electromyography monitoring.
Jimenez JC, Sani S, Braverman B, Deutsch H, Ratliff JK
J Neurosurg Spine 2005 Aug;3(2):92-7. doi: 10.3171/spi.2005.3.2.0092. PMID: 16370297
Primary posterior fusion C1/2 in odontoid fractures: indications, technique, and results of transarticular screw fixation.
Jeanneret B, Magerl F
J Spinal Disord 1992 Dec;5(4):464-75. doi: 10.1097/00002517-199212000-00012. PMID: 1490045
Spondyloarthropathy of the cervical spine in long-term hemodialysis.
Rafto SE, Dalinka MK, Schiebler ML, Burk DL Jr, Kricun ME
Radiology 1988 Jan;166(1 Pt 1):201-4. doi: 10.1148/radiology.166.1.3336679. PMID: 3336679

Prognosis

Three-Dimensional Evaluation and Classification of the Anatomy Variations of Vertebral Artery at the Craniovertebral Junction in 120 Patients of Basilar Invagination and Atlas Occipitalization.
Li T, Yin YH, Qiao GY, Wang HW, Yu XG
Oper Neurosurg (Hagerstown) 2019 Dec 1;17(6):594-602. doi: 10.1093/ons/opz076. PMID: 31127851
Neck Pain, Preoperative Opioids, and Functionality After Cervical Fusion.
Faour M, Anderson JT, Haas AR, Percy R, Woods ST, Ahn UM, Ahn NU
Orthopedics 2017 Jan 1;40(1):25-32. Epub 2016 Oct 18 doi: 10.3928/01477447-20161013-02. PMID: 27755643
Cervicothoracic cystic dysraphism.
Valeur NS, Iyer RS, Ishak GE
Pediatr Radiol 2016 Sep;46(10):1471-81. Epub 2016 May 5 doi: 10.1007/s00247-016-3632-9. PMID: 27147079
C1-C2 pigmented villonodular synovitis and clear cell carcinoma: unexpected presentation of a rare disease and a review of the literature.
Lavrador JP, Oliveira E, Gil N, Francisco AF, Livraghi S
Eur Spine J 2015 May;24 Suppl 4:S465-71. Epub 2014 Jun 8 doi: 10.1007/s00586-014-3396-6. PMID: 24908254
Anomalous vertebral artery in craniovertebral junction with occipitalization of the atlas.
Wang S, Wang C, Liu Y, Yan M, Zhou H
Spine (Phila Pa 1976) 2009 Dec 15;34(26):2838-42. doi: 10.1097/BRS.0b013e3181b4fb8b. PMID: 20010391

Clinical prediction guides

Neck Pain, Preoperative Opioids, and Functionality After Cervical Fusion.
Faour M, Anderson JT, Haas AR, Percy R, Woods ST, Ahn UM, Ahn NU
Orthopedics 2017 Jan 1;40(1):25-32. Epub 2016 Oct 18 doi: 10.3928/01477447-20161013-02. PMID: 27755643
C1-C2 pigmented villonodular synovitis and clear cell carcinoma: unexpected presentation of a rare disease and a review of the literature.
Lavrador JP, Oliveira E, Gil N, Francisco AF, Livraghi S
Eur Spine J 2015 May;24 Suppl 4:S465-71. Epub 2014 Jun 8 doi: 10.1007/s00586-014-3396-6. PMID: 24908254
A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity.
Günaydin NC, Chou J, Karaca NE, Aksu G, Massaad MJ, Azarsiz E, Ertan Y, Geha RS, Kütükçüler N
Clin Immunol 2014 Aug;153(2):288-91. Epub 2014 May 17 doi: 10.1016/j.clim.2014.05.001. PMID: 24845792
Anomalous vertebral artery in craniovertebral junction with occipitalization of the atlas.
Wang S, Wang C, Liu Y, Yan M, Zhou H
Spine (Phila Pa 1976) 2009 Dec 15;34(26):2838-42. doi: 10.1097/BRS.0b013e3181b4fb8b. PMID: 20010391
The apical ligament: anatomy and functional significance.
Tubbs RS, Grabb P, Spooner A, Wilson W, Oakes WJ
J Neurosurg 2000 Apr;92(2 Suppl):197-200. doi: 10.3171/spi.2000.92.2.0197. PMID: 10763691

Recent systematic reviews

Cervical pedicular agenesis: Case report and a review of the literature.
Ferracci FX, Dudoit T, Gilard V, Perez A, Lucas F
Neurochirurgie 2017 Sep;63(4):323-326. Epub 2017 Sep 4 doi: 10.1016/j.neuchi.2017.04.003. PMID: 28882605
Brain death and the cervical spinal cord: a confounding factor for the clinical examination.
Joffe AR, Anton N, Blackwood J
Spinal Cord 2010 Jan;48(1):2-9. Epub 2009 Sep 8 doi: 10.1038/sc.2009.115. PMID: 19736557

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