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Congenital scoliosis

MedGen UID:
643852
•Concept ID:
C0559260
•
Congenital Abnormality
Synonym: Scoliosis, congenital
SNOMED CT: Congenital scoliosis (20944008)

Professional guidelines

PubMed

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
A comprehensive review of the diagnosis and management of congenital scoliosis.
Mackel CE, Jada A, Samdani AF, Stephen JH, Bennett JT, Baaj AA, Hwang SW
Childs Nerv Syst 2018 Nov;34(11):2155-2171. Epub 2018 Aug 4 doi: 10.1007/s00381-018-3915-6. PMID: 30078055
Management of Scoliosis.
Blevins K, Battenberg A, Beck A
Adv Pediatr 2018 Aug;65(1):249-266. Epub 2018 Jun 12 doi: 10.1016/j.yapd.2018.04.013. PMID: 30053928

Recent clinical studies

Etiology

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N
Am J Med Genet A 2022 Dec;188(12):3469-3481. Epub 2022 Sep 26 doi: 10.1002/ajmg.a.62972. PMID: 36161696Free PMC Article
A comprehensive review of the diagnosis and management of congenital scoliosis.
Mackel CE, Jada A, Samdani AF, Stephen JH, Bennett JT, Baaj AA, Hwang SW
Childs Nerv Syst 2018 Nov;34(11):2155-2171. Epub 2018 Aug 4 doi: 10.1007/s00381-018-3915-6. PMID: 30078055
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F
N Engl J Med 2015 Jan 22;372(4):341-50. Epub 2015 Jan 7 doi: 10.1056/NEJMoa1406829. PMID: 25564734Free PMC Article
The adult scoliosis.
Aebi M
Eur Spine J 2005 Dec;14(10):925-48. Epub 2005 Nov 18 doi: 10.1007/s00586-005-1053-9. PMID: 16328223
Congenital scoliosis.
Arlet V, Odent T, Aebi M
Eur Spine J 2003 Oct;12(5):456-63. Epub 2003 Jun 14 doi: 10.1007/s00586-003-0555-6. PMID: 14618384Free PMC Article

Diagnosis

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
Pediatric Spine Disorders.
DePaola K, Cuddihy LA
Pediatr Clin North Am 2020 Feb;67(1):185-204. doi: 10.1016/j.pcl.2019.09.008. PMID: 31779832
A comprehensive review of the diagnosis and management of congenital scoliosis.
Mackel CE, Jada A, Samdani AF, Stephen JH, Bennett JT, Baaj AA, Hwang SW
Childs Nerv Syst 2018 Nov;34(11):2155-2171. Epub 2018 Aug 4 doi: 10.1007/s00381-018-3915-6. PMID: 30078055
Management of Scoliosis.
Blevins K, Battenberg A, Beck A
Adv Pediatr 2018 Aug;65(1):249-266. Epub 2018 Jun 12 doi: 10.1016/j.yapd.2018.04.013. PMID: 30053928
The adult scoliosis.
Aebi M
Eur Spine J 2005 Dec;14(10):925-48. Epub 2005 Nov 18 doi: 10.1007/s00586-005-1053-9. PMID: 16328223

Therapy

Incidence of genitourinary anomalies in congenital scoliosis: systematic review and meta-analysis.
Lorente R, Mariscal G, Lorente A
Eur Spine J 2023 Nov;32(11):3961-3969. Epub 2023 Aug 12 doi: 10.1007/s00586-023-07889-w. PMID: 37572143
Treatment of early-onset scoliosis: techniques, indications, and complications.
Zhang YB, Zhang JG
Chin Med J (Engl) 2020 Feb 5;133(3):351-357. doi: 10.1097/CM9.0000000000000614. PMID: 31904727Free PMC Article
The Natural History of Early-onset Scoliosis.
Karol LA
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S38-S43. doi: 10.1097/BPO.0000000000001351. PMID: 31169646
What's New in Congenital Scoliosis?
Pahys JM, Guille JT
J Pediatr Orthop 2018 Mar;38(3):e172-e179. doi: 10.1097/BPO.0000000000000922. PMID: 28009797
Congenital Scoliosis (Mini-review).
Weiss HR, Moramarco M
Curr Pediatr Rev 2016;12(1):43-7. doi: 10.2174/1573396312666151117121011. PMID: 26769614

Prognosis

Management of Scoliosis.
Blevins K, Battenberg A, Beck A
Adv Pediatr 2018 Aug;65(1):249-266. Epub 2018 Jun 12 doi: 10.1016/j.yapd.2018.04.013. PMID: 30053928
Congenital Scoliosis (Mini-review).
Weiss HR, Moramarco M
Curr Pediatr Rev 2016;12(1):43-7. doi: 10.2174/1573396312666151117121011. PMID: 26769614
The adult scoliosis.
Aebi M
Eur Spine J 2005 Dec;14(10):925-48. Epub 2005 Nov 18 doi: 10.1007/s00586-005-1053-9. PMID: 16328223
Congenital scoliosis.
Hedequist D, Emans J
J Am Acad Orthop Surg 2004 Jul-Aug;12(4):266-75. doi: 10.5435/00124635-200407000-00007. PMID: 15473678
Congenital scoliosis.
Jaskwhich D, Ali RM, Patel TC, Green DW
Curr Opin Pediatr 2000 Feb;12(1):61-6. doi: 10.1097/00008480-200002000-00012. PMID: 10676776

Clinical prediction guides

Klippel-Feil Syndrome: Pathogenesis, Diagnosis, and Management.
Litrenta J, Bi AS, Dryer JW
J Am Acad Orthop Surg 2021 Nov 15;29(22):951-960. doi: 10.5435/JAAOS-D-21-00190. PMID: 34288888
Congenital Scoliosis (Mini-review).
Weiss HR, Moramarco M
Curr Pediatr Rev 2016;12(1):43-7. doi: 10.2174/1573396312666151117121011. PMID: 26769614
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev ZS, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy KW, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F
N Engl J Med 2015 Jan 22;372(4):341-50. Epub 2015 Jan 7 doi: 10.1056/NEJMoa1406829. PMID: 25564734Free PMC Article
The adult scoliosis.
Aebi M
Eur Spine J 2005 Dec;14(10):925-48. Epub 2005 Nov 18 doi: 10.1007/s00586-005-1053-9. PMID: 16328223
Congenital scoliosis.
Hedequist D, Emans J
J Am Acad Orthop Surg 2004 Jul-Aug;12(4):266-75. doi: 10.5435/00124635-200407000-00007. PMID: 15473678

Recent systematic reviews

Incidence of genitourinary anomalies in congenital scoliosis: systematic review and meta-analysis.
Lorente R, Mariscal G, Lorente A
Eur Spine J 2023 Nov;32(11):3961-3969. Epub 2023 Aug 12 doi: 10.1007/s00586-023-07889-w. PMID: 37572143
Incidence of cardiac anomalies in congenital vertebral deformity: systematic review and meta-analysis of 2910 patients.
Bas JL, Pérez S, Rubio P, Mariscal G, Bonilla F, Bovea M, Bas P, Bas T
Eur Spine J 2023 Sep;32(9):2967-2974. Epub 2023 Jun 9 doi: 10.1007/s00586-023-07817-y. PMID: 37294359
Surgical outcomes following hemivertebrectomy in congenital scoliosis: a systematic review and observational meta-analysis.
Barik S, Mishra D, Gupta T, Yadav G, Kandwal P
Eur Spine J 2021 Jul;30(7):1835-1847. Epub 2021 Mar 19 doi: 10.1007/s00586-021-06812-5. PMID: 33742234
Incidence of intraspinal abnormalities in congenital scoliosis: a systematic review and meta-analysis.
Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139Free PMC Article
Instrumentation and fusion for congenital spine deformities.
Hedequist DJ
Spine (Phila Pa 1976) 2009 Aug 1;34(17):1783-90. doi: 10.1097/BRS.0b013e3181ab62b3. PMID: 19644329

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