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Widening of cervical spinal canal

MedGen UID:
813921
Concept ID:
C3807591
Finding
HPO: HP:0004571

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWidening of cervical spinal canal

Conditions with this feature

Cardioneuromyopathy with hyaline masses and nemaline rods
MedGen UID:
339747
Concept ID:
C1847387
Disease or Syndrome
Lethal congenital contracture syndrome 1
MedGen UID:
344338
Concept ID:
C1854664
Disease or Syndrome
Autosomal recessive lethal congenital contracture syndrome (LCCS) is the most severe, neonatally lethal, form of arthrogryposis (see 108120), a disorder characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). Genetic Heterogeneity of Lethal Congenital Contracture Syndrome See also lethal congenital contracture syndrome-2 (LCCS2; 607598), caused by mutation in the ERBB3 gene (190151); LCCS3 (611369), caused by mutation in the PIP5K1C gene (606102); LCCS4 (614915), caused by mutation in the MYBPC1 gene (160794); LCCS5 (615368), caused by mutation in the DNM2 gene (602378); LCCS6 (616248), caused by mutation in the ZBTB42 gene (613915); LCCS7 (616286), caused by mutation in the CNTNAP1 gene (602346); LCCS8 (616287), caused by mutation in the ADCY6 gene (600294); LCCS9 (616503), caused by mutation in the ADGRG6 gene (612243); LCCS10 (617022), caused by mutation in the NEK9 gene (609798); and LCCS11 (617194), caused by mutation in the GLDN gene (608603).

Recent clinical studies

Etiology

Siller S, Pannenbaecker L, Tonn JC, Zausinger S
Oper Neurosurg (Hagerstown) 2022 Nov 1;23(5):431-438. Epub 2022 Aug 29 doi: 10.1227/ons.0000000000000364. PMID: 36227256
Rebich E, Tavolaro C, Yao J, Zhou H, Agel J, Bransford R, Bellabarba C
Spine J 2021 Jul;21(7):1159-1167. Epub 2021 Feb 19 doi: 10.1016/j.spinee.2021.02.010. PMID: 33610805
Wang Q, Dong S, Wang F
Surg Radiol Anat 2020 Feb;42(2):155-160. Epub 2019 Oct 15 doi: 10.1007/s00276-019-02351-3. PMID: 31616983
Baba H, Uchida K, Maezawa Y, Furusawa N, Wada M, Imura S
Spinal Cord 1997 Oct;35(10):674-9. doi: 10.1038/sj.sc.3100473. PMID: 9347596
Markuske H
Pediatr Radiol 1977 Oct 28;6(3):129-31. doi: 10.1007/BF00972103. PMID: 927974

Diagnosis

Wang Q, Dong S, Wang F
Surg Radiol Anat 2020 Feb;42(2):155-160. Epub 2019 Oct 15 doi: 10.1007/s00276-019-02351-3. PMID: 31616983
He L, Qian Y
Orthopade 2019 Feb;48(2):170-174. doi: 10.1007/s00132-018-3633-5. PMID: 30194632
Kang SH, Lee SM, Ha DH, Lee HJ
Eur Spine J 2018 Jul;27(Suppl 3):520-525. Epub 2018 Mar 29 doi: 10.1007/s00586-018-5568-2. PMID: 29594468
Tadepalli SC, Gandhi AA, Fredericks DC, Grosland NM, Smucker J
Iowa Orthop J 2011;31:207-14. PMID: 22096443Free PMC Article
Bensch FV, Koivikko MP, Kiuru MJ, Koskinen SK
Skeletal Radiol 2009 Sep;38(9):887-93. Epub 2009 May 9 doi: 10.1007/s00256-009-0702-1. PMID: 19430781

Therapy

Lee DH, Cho JH, Lee CS, Hwang CJ, Choi SH, Hong CG
Spine J 2018 Jun;18(6):1099-1105. Epub 2018 Feb 26 doi: 10.1016/j.spinee.2018.02.022. PMID: 29496626
Tadepalli SC, Gandhi AA, Fredericks DC, Grosland NM, Smucker J
Iowa Orthop J 2011;31:207-14. PMID: 22096443Free PMC Article
Baba H, Uchida K, Maezawa Y, Furusawa N, Wada M, Imura S
Spinal Cord 1997 Oct;35(10):674-9. doi: 10.1038/sj.sc.3100473. PMID: 9347596
Nishimura G, Mugishima H, Hirao J, Yamato M
Eur J Pediatr 1997 Jun;156(6):432-5. doi: 10.1007/s004310050631. PMID: 9208235

Prognosis

Rebich E, Tavolaro C, Yao J, Zhou H, Agel J, Bransford R, Bellabarba C
Spine J 2021 Jul;21(7):1159-1167. Epub 2021 Feb 19 doi: 10.1016/j.spinee.2021.02.010. PMID: 33610805
Shao J, Gao Y, Gao K, Yu Z
BMC Musculoskelet Disord 2019 Oct 15;20(1):451. doi: 10.1186/s12891-019-2842-3. PMID: 31615503Free PMC Article
Solanki GA, Lo WB, Hendriksz CJ
J Inherit Metab Dis 2013 Mar;36(2):329-37. Epub 2013 Feb 13 doi: 10.1007/s10545-013-9585-3. PMID: 23404316Free PMC Article
Uchida K, Nakajima H, Sato R, Kokubo Y, Yayama T, Kobayashi S, Baba H
J Orthop Sci 2005 Nov;10(6):564-73. doi: 10.1007/s00776-005-0953-1. PMID: 16307181Free PMC Article
Baba H, Uchida K, Maezawa Y, Furusawa N, Wada M, Imura S
Spinal Cord 1997 Oct;35(10):674-9. doi: 10.1038/sj.sc.3100473. PMID: 9347596

Clinical prediction guides

Siller S, Pannenbaecker L, Tonn JC, Zausinger S
Oper Neurosurg (Hagerstown) 2022 Nov 1;23(5):431-438. Epub 2022 Aug 29 doi: 10.1227/ons.0000000000000364. PMID: 36227256
Rebich E, Tavolaro C, Yao J, Zhou H, Agel J, Bransford R, Bellabarba C
Spine J 2021 Jul;21(7):1159-1167. Epub 2021 Feb 19 doi: 10.1016/j.spinee.2021.02.010. PMID: 33610805
Wang Q, Dong S, Wang F
Surg Radiol Anat 2020 Feb;42(2):155-160. Epub 2019 Oct 15 doi: 10.1007/s00276-019-02351-3. PMID: 31616983
He L, Qian Y
Orthopade 2019 Feb;48(2):170-174. doi: 10.1007/s00132-018-3633-5. PMID: 30194632
Hoti YUD, Aziz A, Ishaque K, Abbas S, Ud Din TS
J Coll Physicians Surg Pak 2018 Jun;28(6):466-469. doi: 10.29271/jcpsp.2018.06.466. PMID: 29848425

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