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Cervical C3/C4 vertebral fusion

MedGen UID:
868147
Concept ID:
C4022538
Anatomical Abnormality
HPO: HP:0030281

Definition

Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCervical C3/C4 vertebral fusion

Conditions with this feature

Klippel-Feil syndrome 3, autosomal dominant
MedGen UID:
462317
Concept ID:
C3150967
Disease or Syndrome
Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100).

Professional guidelines

PubMed

Ohba T, Hatsushika K, Ebata S, Koyama K, Akaike H, Yokomichi H, Masuyama K, Haro H
Clin Spine Surg 2020 May;33(4):E168-E173. doi: 10.1097/BSD.0000000000000945. PMID: 32011353
Christodoulou A, Ploumis A, Terzidis I, Hantzidis P, Tapsis K, Pournaras J
Acta Orthop Belg 2004 Oct;70(5):461-5. PMID: 15587035

Recent clinical studies

Etiology

Bajouri Z, Telang S, Fresquez Z, Kim M, Gilbert Z, Pickering T, Buser Z, Hah RJ, Wang JC, Alluri RK
Spine (Phila Pa 1976) 2023 Jun 15;48(12):859-866. Epub 2022 Nov 21 doi: 10.1097/BRS.0000000000004546. PMID: 36730535Free PMC Article
Odate S, Shikata J, Yamamura S, Okahata A, Kawaguchi S, Tanaka C
Spine (Phila Pa 1976) 2022 Mar 1;47(5):423-429. doi: 10.1097/BRS.0000000000004225. PMID: 34545046
Tomii M, Mizuno J, Itoh Y, Watanabe K
Clin Neurol Neurosurg 2015 Aug;135:11-4. Epub 2015 May 14 doi: 10.1016/j.clineuro.2015.04.026. PMID: 26005164
Patibandla MR, Mudumba V, Yerramneni VK
Spine (Phila Pa 1976) 2013 Mar 15;38(6):E374-7. doi: 10.1097/BRS.0b013e318284362b. PMID: 23492978
Park MS, Kelly MP, Min WK, Rahman RK, Riew KD
Spine (Phila Pa 1976) 2013 Jan 15;38(2):112-8. doi: 10.1097/BRS.0b013e318267b0e6. PMID: 22781005

Diagnosis

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
Odate S, Shikata J, Yamamura S, Okahata A, Kawaguchi S, Tanaka C
Spine (Phila Pa 1976) 2022 Mar 1;47(5):423-429. doi: 10.1097/BRS.0000000000004225. PMID: 34545046
Basu S, Malik FH, Ghosh JD, Tikoo A
J Orthop Surg (Hong Kong) 2011 Dec;19(3):331-5. doi: 10.1177/230949901101900314. PMID: 22184165
Hashimoto M, Mochizuki M, Aiba A, Okawa A, Hayashi K, Sakuma T, Takahashi H, Koda M, Takahashi K, Yamazaki M
Eur Spine J 2010 Oct;19(10):1702-10. Epub 2010 May 12 doi: 10.1007/s00586-010-1427-5. PMID: 20461418Free PMC Article
Shapiro SA
Neurosurgery 1993 Nov;33(5):832-7; discussion 837. doi: 10.1227/00006123-199311000-00007. PMID: 8264879

Therapy

Falavigna A, Arruda AO, Righesso Neto O, Dozza D, Guyot JP, Yurac R, Jalón PG, Avila JMJ, Zárate B, Scheverin N, Ghogawala Z
Neurosurgery 2023 Jun 1;92(6):1287-1296. Epub 2023 Feb 10 doi: 10.1227/neu.0000000000002364. PMID: 36762900
Dai J, Liu H, Chen K, Cai X, Zhang L, Yin QS
Acta Orthop Belg 2022 Dec;88(4):667-674. doi: 10.52628/88.4.10591. PMID: 36800649
Odate S, Shikata J, Yamamura S, Okahata A, Kawaguchi S, Tanaka C
Spine (Phila Pa 1976) 2022 Mar 1;47(5):423-429. doi: 10.1097/BRS.0000000000004225. PMID: 34545046
Tomii M, Mizuno J, Itoh Y, Watanabe K
Clin Neurol Neurosurg 2015 Aug;135:11-4. Epub 2015 May 14 doi: 10.1016/j.clineuro.2015.04.026. PMID: 26005164
Schofferman J, Garges K, Goldthwaite N, Koestler M, Libby E
Spine (Phila Pa 1976) 2002 Oct 15;27(20):2240-4. doi: 10.1097/00007632-200210150-00011. PMID: 12394901

Prognosis

Wren KR, Wren TL
AANA J 2022 Feb;90(1):46-49. PMID: 35076383
Odate S, Shikata J, Yamamura S, Okahata A, Kawaguchi S, Tanaka C
Spine (Phila Pa 1976) 2022 Mar 1;47(5):423-429. doi: 10.1097/BRS.0000000000004225. PMID: 34545046
Park MS, Kelly MP, Min WK, Rahman RK, Riew KD
Spine (Phila Pa 1976) 2013 Jan 15;38(2):112-8. doi: 10.1097/BRS.0b013e318267b0e6. PMID: 22781005
Hashimoto M, Mochizuki M, Aiba A, Okawa A, Hayashi K, Sakuma T, Takahashi H, Koda M, Takahashi K, Yamazaki M
Eur Spine J 2010 Oct;19(10):1702-10. Epub 2010 May 12 doi: 10.1007/s00586-010-1427-5. PMID: 20461418Free PMC Article
Schofferman J, Garges K, Goldthwaite N, Koestler M, Libby E
Spine (Phila Pa 1976) 2002 Oct 15;27(20):2240-4. doi: 10.1097/00007632-200210150-00011. PMID: 12394901

Clinical prediction guides

Odate S, Shikata J, Yamamura S, Okahata A, Kawaguchi S, Tanaka C
Spine (Phila Pa 1976) 2022 Mar 1;47(5):423-429. doi: 10.1097/BRS.0000000000004225. PMID: 34545046
Tomii M, Mizuno J, Itoh Y, Watanabe K
Clin Neurol Neurosurg 2015 Aug;135:11-4. Epub 2015 May 14 doi: 10.1016/j.clineuro.2015.04.026. PMID: 26005164
Chen Y, He Z, Yang H, Liu X, Wang X, Chen D
Orthopedics 2013 Apr;36(4):e501-8. doi: 10.3928/01477447-20130327-30. PMID: 23590793
Park MS, Kelly MP, Min WK, Rahman RK, Riew KD
Spine (Phila Pa 1976) 2013 Jan 15;38(2):112-8. doi: 10.1097/BRS.0b013e318267b0e6. PMID: 22781005
Schofferman J, Garges K, Goldthwaite N, Koestler M, Libby E
Spine (Phila Pa 1976) 2002 Oct 15;27(20):2240-4. doi: 10.1097/00007632-200210150-00011. PMID: 12394901

Recent systematic reviews

Quiceno E, Hussein A, Pico A, Abdulla E, Bauer IL, Nosova K, Orenday-Barraza J, Moniakis A, Khan MA, Prim M, Baaj AA
J Neurosurg Spine 2024 Mar 1;40(3):265-273. Epub 2023 Dec 1 doi: 10.3171/2023.9.SPINE23325. PMID: 38039517
Mathkour M, Scullen T, Debakey M, Beighley A, Jawad B, Riffle J, Abou-Al-Shaar H, Tubbs RS, Kalyvas J
Clin Neurol Neurosurg 2021 Jan;200:106366. Epub 2020 Nov 18 doi: 10.1016/j.clineuro.2020.106366. PMID: 33276217
Wong AS, Massicotte EM, Fehlings MG
J Spinal Disord Tech 2005 Feb;18 Suppl:S107-14. doi: 10.1097/01.bsd.0000128693.44276.86. PMID: 15699795

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