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Congenital absence of cervical vertebra

MedGen UID:
140922
Concept ID:
C0432160
Congenital Abnormality
Synonyms: Cervical vertebrae, agenesis of; Cervical vertebral agenesis
SNOMED CT: Congenital absence of cervical vertebra (91880006); Agenesis of cervical vertebra (1163556006)
 
HPO: HP:0008459
Monarch Initiative: MONDO:0008957
OMIM®: 214290

Definition

Agenesis of one or more vertebrae of the cervical vertebral column. [from HPO]

Clinical features

From HPO
Congenital absence of cervical vertebra
MedGen UID:
140922
Concept ID:
C0432160
Congenital Abnormality
Agenesis of one or more vertebrae of the cervical vertebral column.
Abnormality of the neck
MedGen UID:
540042
Concept ID:
C0266623
Congenital Abnormality
An abnormality of the neck.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital absence of cervical vertebra

Conditions with this feature

Congenital absence of cervical vertebra
MedGen UID:
140922
Concept ID:
C0432160
Congenital Abnormality
Agenesis of one or more vertebrae of the cervical vertebral column.

Professional guidelines

PubMed

Kotil K, Kilinc B, Bilge T
Pediatr Neurosurg 2008;44(3):193-8. Epub 2008 Mar 11 doi: 10.1159/000120149. PMID: 18334842
Gottlieb MS
J Manipulative Physiol Ther 1994 Jun;17(5):314-20. PMID: 7930965

Recent clinical studies

Etiology

Sun X, Sun S, Kong C, Wang W, Zhang T, Ding J, Li X, Lu S
Biomed Res Int 2020;2020:4290597. Epub 2020 May 12 doi: 10.1155/2020/4290597. PMID: 32461987Free PMC Article
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
Jenkins TJ, Mai HT, Burgmeier RJ, Savage JW, Patel AA, Hsu WK
Spine (Phila Pa 1976) 2016 Mar;41(5):E242-7. doi: 10.1097/BRS.0000000000001227. PMID: 26555825
Smith BA, Griffin C
Ann Emerg Med 1992 Jul;21(7):876-9. doi: 10.1016/s0196-0644(05)81038-8. PMID: 1610048
Wiener MD, Martinez S, Forsberg DA
AJR Am J Roentgenol 1990 Nov;155(5):1037-41. doi: 10.2214/ajr.155.5.2120932. PMID: 2120932

Diagnosis

Sun X, Sun S, Kong C, Wang W, Zhang T, Ding J, Li X, Lu S
Biomed Res Int 2020;2020:4290597. Epub 2020 May 12 doi: 10.1155/2020/4290597. PMID: 32461987Free PMC Article
Adib O, Berthier E, Loisel D, Aubé C
Skeletal Radiol 2016 Dec;45(12):1607-1617. Epub 2016 Sep 20 doi: 10.1007/s00256-016-2481-9. PMID: 27650073
Kim HJ
Curr Opin Pediatr 2013 Feb;25(1):72-7. doi: 10.1097/MOP.0b013e32835bd4cf. PMID: 23263023
Smith BA, Griffin C
Ann Emerg Med 1992 Jul;21(7):876-9. doi: 10.1016/s0196-0644(05)81038-8. PMID: 1610048
Wiener MD, Martinez S, Forsberg DA
AJR Am J Roentgenol 1990 Nov;155(5):1037-41. doi: 10.2214/ajr.155.5.2120932. PMID: 2120932

Therapy

Nagahama K, Sudo H, Abumi K, Ito M, Takahata M, Hiratsuka S, Kuroki K, Iwasaki N
Bone Joint J 2014 Apr;96-B(4):535-40. doi: 10.1302/0301-620X.96B4.33210. PMID: 24692624
Corominas L, Masrouha KZ
J Bone Joint Surg Br 2010 Sep;92(9):1300-2. doi: 10.1302/0301-620X.92B9.24071. PMID: 20798452
Braga M, Pederzoli M, Beretta S, Ferrarini M, Canovaro P, Arpaia G, Crespi V
Spine (Phila Pa 1976) 2009 Sep 15;34(20):E740-2. doi: 10.1097/BRS.0b013e3181b41181. PMID: 19752694
Klimo P Jr, Binning M, Brockmeyer DL, Apfelbaum RI
Neurosurgery 2007 Sep;61(3 Suppl):94-9; discussion 99. doi: 10.1227/01.neu.0000289721.04836.b4. PMID: 17876238
Truumees E, Herkowitz HN
Instr Course Lect 2000;49:339-60. PMID: 10829188

Prognosis

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
Sahoo S, Salunke P, Karthigeyan M, Rajasekhar R
World Neurosurg 2018 May;113:37-39. Epub 2018 Feb 10 doi: 10.1016/j.wneu.2018.02.005. PMID: 29438789
Aggarwal RA, Srivastava S, Bhosale S, Roy K
JBJS Case Connect 2016 Jul-Sep;6(3):e56. doi: 10.2106/JBJS.CC.15.00261. PMID: 29252633
Dean CL, Gabriel JP, Cassinelli EH, Bolesta MJ, Bohlman HH
Spine J 2009 Jun;9(6):439-46. Epub 2008 Dec 25 doi: 10.1016/j.spinee.2008.11.010. PMID: 19111509
Truumees E, Herkowitz HN
Instr Course Lect 2000;49:339-60. PMID: 10829188

Clinical prediction guides

Chang C, Zhu J, Li H, Yang Q
BMC Pediatr 2022 Jul 8;22(1):400. doi: 10.1186/s12887-022-03461-5. PMID: 35804316Free PMC Article
Menezes AH, Traynelis VC
Childs Nerv Syst 2022 Feb;38(2):361-377. Epub 2021 Nov 22 doi: 10.1007/s00381-021-05409-z. PMID: 34806157
Dean CL, Gabriel JP, Cassinelli EH, Bolesta MJ, Bohlman HH
Spine J 2009 Jun;9(6):439-46. Epub 2008 Dec 25 doi: 10.1016/j.spinee.2008.11.010. PMID: 19111509
Harrop JS, Jeyamohan S, Sharan A, Ratliff J, Flanders A, Maltenfort M, Falowski S, Vaccaro A
J Spinal Cord Med 2008;31(1):83-7. doi: 10.1080/10790268.2008.11753986. PMID: 18533417Free PMC Article
Gottlieb MS
J Manipulative Physiol Ther 1994 Jun;17(5):314-20. PMID: 7930965

Recent systematic reviews

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

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