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Spinal instability

MedGen UID:
96082
Concept ID:
C0410648
Disease or Syndrome
SNOMED CT: Spinal instability (240220009)
 
HPO: HP:0005881

Conditions with this feature

Microcephaly-cervical spine fusion anomalies syndrome
MedGen UID:
208663
Concept ID:
C0796066
Disease or Syndrome
A very rare disorder, features include microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression.

Professional guidelines

PubMed

Galgano M, Fridley J, Oyelese A, Telfian A, Kosztowski T, Choi D, Gokaslan ZL
Expert Rev Anticancer Ther 2018 May;18(5):463-472. Epub 2018 Apr 2 doi: 10.1080/14737140.2018.1453359. PMID: 29560739
Nagashima H, Tanishima S, Tanida A
J Orthop Sci 2018 Jan;23(1):8-13. Epub 2017 Oct 20 doi: 10.1016/j.jos.2017.09.016. PMID: 29066036
Herren C, Jung N, Pishnamaz M, Breuninger M, Siewe J, Sobottke R
Dtsch Arztebl Int 2017 Dec 25;114(51-52):875-882. doi: 10.3238/arztebl.2017.0875. PMID: 29321098Free PMC Article

Recent clinical studies

Etiology

Leone A, Cianfoni A, Zecchi V, Cortese MC, Rumi N, Colosimo C
Skeletal Radiol 2019 Feb;48(2):195-207. Epub 2018 Aug 1 doi: 10.1007/s00256-018-3032-3. PMID: 30069584
Herren C, Jung N, Pishnamaz M, Breuninger M, Siewe J, Sobottke R
Dtsch Arztebl Int 2017 Dec 25;114(51-52):875-882. doi: 10.3238/arztebl.2017.0875. PMID: 29321098Free PMC Article
Melancia JL, Francisco AF, Antunes JL
Handb Clin Neurol 2014;119:541-9. doi: 10.1016/B978-0-7020-4086-3.00035-7. PMID: 24365318
Gerometta A, Bittan F, Rodriguez Olaverri JC
Int Orthop 2012 Feb;36(2):433-8. Epub 2012 Feb 4 doi: 10.1007/s00264-011-1442-0. PMID: 22307558Free PMC Article
Fisher CG, DiPaola CP, Ryken TC, Bilsky MH, Shaffrey CI, Berven SH, Harrop JS, Fehlings MG, Boriani S, Chou D, Schmidt MH, Polly DW, Biagini R, Burch S, Dekutoski MB, Ganju A, Gerszten PC, Gokaslan ZL, Groff MW, Liebsch NJ, Mendel E, Okuno SH, Patel S, Rhines LD, Rose PS, Sciubba DM, Sundaresan N, Tomita K, Varga PP, Vialle LR, Vrionis FD, Yamada Y, Fourney DR
Spine (Phila Pa 1976) 2010 Oct 15;35(22):E1221-9. doi: 10.1097/BRS.0b013e3181e16ae2. PMID: 20562730

Diagnosis

Herren C, Jung N, Pishnamaz M, Breuninger M, Siewe J, Sobottke R
Dtsch Arztebl Int 2017 Dec 25;114(51-52):875-882. doi: 10.3238/arztebl.2017.0875. PMID: 29321098Free PMC Article
Márquez Sánchez P
Radiologia 2016 Apr;58 Suppl 1:50-9. Epub 2016 Feb 9 doi: 10.1016/j.rx.2015.12.005. PMID: 26869521
Melancia JL, Francisco AF, Antunes JL
Handb Clin Neurol 2014;119:541-9. doi: 10.1016/B978-0-7020-4086-3.00035-7. PMID: 24365318
Izzo R, Guarnieri G, Guglielmi G, Muto M
Eur J Radiol 2013 Jan;82(1):118-26. Epub 2012 Oct 22 doi: 10.1016/j.ejrad.2012.07.024. PMID: 23088879
Fisher CG, DiPaola CP, Ryken TC, Bilsky MH, Shaffrey CI, Berven SH, Harrop JS, Fehlings MG, Boriani S, Chou D, Schmidt MH, Polly DW, Biagini R, Burch S, Dekutoski MB, Ganju A, Gerszten PC, Gokaslan ZL, Groff MW, Liebsch NJ, Mendel E, Okuno SH, Patel S, Rhines LD, Rose PS, Sciubba DM, Sundaresan N, Tomita K, Varga PP, Vialle LR, Vrionis FD, Yamada Y, Fourney DR
Spine (Phila Pa 1976) 2010 Oct 15;35(22):E1221-9. doi: 10.1097/BRS.0b013e3181e16ae2. PMID: 20562730

Therapy

Jiang Q, Gao H, Shi X, Wu Y, Ni W, Shang A
Front Endocrinol (Lausanne) 2023;14:1285137. Epub 2023 Oct 31 doi: 10.3389/fendo.2023.1285137. PMID: 38027141Free PMC Article
Abreu PGP, Lourenço JA, Romero C, D Almeida GN, Pappamikail L, Lopes MF, Brito M, Teles P, Correia JP
Eur Spine J 2022 Jul;31(7):1765-1774. Epub 2022 Feb 24 doi: 10.1007/s00586-022-07142-w. PMID: 35211807
Sahgal A, Myrehaug SD, Siva S, Masucci GL, Maralani PJ, Brundage M, Butler J, Chow E, Fehlings MG, Foote M, Gabos Z, Greenspoon J, Kerba M, Lee Y, Liu M, Liu SK, Thibault I, Wong RK, Hum M, Ding K, Parulekar WR; trial investigators
Lancet Oncol 2021 Jul;22(7):1023-1033. Epub 2021 Jun 11 doi: 10.1016/S1470-2045(21)00196-0. PMID: 34126044
Nagashima H, Tanishima S, Tanida A
J Orthop Sci 2018 Jan;23(1):8-13. Epub 2017 Oct 20 doi: 10.1016/j.jos.2017.09.016. PMID: 29066036
Sypert GW
Neurosurgery 1987 Apr;20(4):642-9. doi: 10.1227/00006123-198704000-00026. PMID: 3295581

Prognosis

Leone A, Cianfoni A, Zecchi V, Cortese MC, Rumi N, Colosimo C
Skeletal Radiol 2019 Feb;48(2):195-207. Epub 2018 Aug 1 doi: 10.1007/s00256-018-3032-3. PMID: 30069584
Nagashima H, Tanishima S, Tanida A
J Orthop Sci 2018 Jan;23(1):8-13. Epub 2017 Oct 20 doi: 10.1016/j.jos.2017.09.016. PMID: 29066036
Márquez Sánchez P
Radiologia 2016 Apr;58 Suppl 1:50-9. Epub 2016 Feb 9 doi: 10.1016/j.rx.2015.12.005. PMID: 26869521
Fisher CG, DiPaola CP, Ryken TC, Bilsky MH, Shaffrey CI, Berven SH, Harrop JS, Fehlings MG, Boriani S, Chou D, Schmidt MH, Polly DW, Biagini R, Burch S, Dekutoski MB, Ganju A, Gerszten PC, Gokaslan ZL, Groff MW, Liebsch NJ, Mendel E, Okuno SH, Patel S, Rhines LD, Rose PS, Sciubba DM, Sundaresan N, Tomita K, Varga PP, Vialle LR, Vrionis FD, Yamada Y, Fourney DR
Spine (Phila Pa 1976) 2010 Oct 15;35(22):E1221-9. doi: 10.1097/BRS.0b013e3181e16ae2. PMID: 20562730
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S
Orphanet J Rare Dis 2010 Apr 12;5:5. doi: 10.1186/1750-1172-5-5. PMID: 20385007Free PMC Article

Clinical prediction guides

Jiang Q, Gao H, Shi X, Wu Y, Ni W, Shang A
Front Endocrinol (Lausanne) 2023;14:1285137. Epub 2023 Oct 31 doi: 10.3389/fendo.2023.1285137. PMID: 38027141Free PMC Article
Goel A, Vutha R, Shah A
Adv Tech Stand Neurosurg 2023;46:125-147. doi: 10.1007/978-3-031-28202-7_7. PMID: 37318573
Sahgal A, Myrehaug SD, Siva S, Masucci GL, Maralani PJ, Brundage M, Butler J, Chow E, Fehlings MG, Foote M, Gabos Z, Greenspoon J, Kerba M, Lee Y, Liu M, Liu SK, Thibault I, Wong RK, Hum M, Ding K, Parulekar WR; trial investigators
Lancet Oncol 2021 Jul;22(7):1023-1033. Epub 2021 Jun 11 doi: 10.1016/S1470-2045(21)00196-0. PMID: 34126044
Leone A, Cianfoni A, Zecchi V, Cortese MC, Rumi N, Colosimo C
Skeletal Radiol 2019 Feb;48(2):195-207. Epub 2018 Aug 1 doi: 10.1007/s00256-018-3032-3. PMID: 30069584
Fisher CG, DiPaola CP, Ryken TC, Bilsky MH, Shaffrey CI, Berven SH, Harrop JS, Fehlings MG, Boriani S, Chou D, Schmidt MH, Polly DW, Biagini R, Burch S, Dekutoski MB, Ganju A, Gerszten PC, Gokaslan ZL, Groff MW, Liebsch NJ, Mendel E, Okuno SH, Patel S, Rhines LD, Rose PS, Sciubba DM, Sundaresan N, Tomita K, Varga PP, Vialle LR, Vrionis FD, Yamada Y, Fourney DR
Spine (Phila Pa 1976) 2010 Oct 15;35(22):E1221-9. doi: 10.1097/BRS.0b013e3181e16ae2. PMID: 20562730

Recent systematic reviews

Noh SH, Takahashi T, Inoue T, Park SM, Hanakita J, Minami M, Kanematsu R, Shimauchi-Ohtaki H, Ha Y
J Clin Neurosci 2022 Jun;100:148-154. Epub 2022 Apr 23 doi: 10.1016/j.jocn.2022.04.005. PMID: 35472680
Abreu PGP, Lourenço JA, Romero C, D Almeida GN, Pappamikail L, Lopes MF, Brito M, Teles P, Correia JP
Eur Spine J 2022 Jul;31(7):1765-1774. Epub 2022 Feb 24 doi: 10.1007/s00586-022-07142-w. PMID: 35211807
Versteeg AL, Verlaan JJ, Sahgal A, Mendel E, Quraishi NA, Fourney DR, Fisher CG
Spine (Phila Pa 1976) 2016 Oct 15;41 Suppl 20:S231-S237. doi: 10.1097/BRS.0000000000001822. PMID: 27488297
Lee SH, Grant R, Kennedy C, Kilbride L
Cochrane Database Syst Rev 2015 Sep 24;2015(9):CD007609. doi: 10.1002/14651858.CD007609.pub3. PMID: 26400848Free PMC Article
Fisher CG, DiPaola CP, Ryken TC, Bilsky MH, Shaffrey CI, Berven SH, Harrop JS, Fehlings MG, Boriani S, Chou D, Schmidt MH, Polly DW, Biagini R, Burch S, Dekutoski MB, Ganju A, Gerszten PC, Gokaslan ZL, Groff MW, Liebsch NJ, Mendel E, Okuno SH, Patel S, Rhines LD, Rose PS, Sciubba DM, Sundaresan N, Tomita K, Varga PP, Vialle LR, Vrionis FD, Yamada Y, Fourney DR
Spine (Phila Pa 1976) 2010 Oct 15;35(22):E1221-9. doi: 10.1097/BRS.0b013e3181e16ae2. PMID: 20562730

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