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C1-C2 vertebral abnormality

MedGen UID:
870237
Concept ID:
C4024675
Anatomical Abnormality
HPO: HP:0008440

Definition

Any abnormality of the atlas and the axis. [from HPO]

Conditions with this feature

Shprintzen-Goldberg syndrome
MedGen UID:
231160
Concept ID:
C1321551
Disease or Syndrome
Shprintzen-Goldberg syndrome (SGS) is characterized by: delayed motor and cognitive milestones and mild-to-moderate intellectual disability; craniosynostosis of the coronal, sagittal, or lambdoid sutures; distinctive craniofacial features; and musculoskeletal findings including olichostenomelia, arachnodactyly, camptodactyly, pectus excavatum or carinatum, scoliosis, joint hypermobility or contractures, pes planus, foot malposition, and C1-C2 spine malformation. Cardiovascular anomalies may include mitral valve prolapse, secundum atrial septal defect, and aortic root dilatation. Minimal subcutaneous fat, abdominal wall defects, and myopia are also characteristic findings.

Professional guidelines

PubMed

Helenius IJ, Bauer JM, Verhofste B, Sponseller PD, Krengel WF, Hedequist D, Cahill PJ, Larson AN, Pahys JM, Anderson JT, Martus JE, Yaszay B, Phillips JH
J Bone Joint Surg Am 2019 Oct 2;101(19):1750-1760. doi: 10.2106/JBJS.19.00314. PMID: 31577680
Pang D, Nemzek WR, Zovickian J
Neurosurgery 2007 Nov;61(5):995-1015; discussion 1015. doi: 10.1227/01.neu.0000303196.87672.78. PMID: 18091277
Halbach VV, Higashida RT, Hieshima GB
AJR Am J Roentgenol 1988 Feb;150(2):405-12. doi: 10.2214/ajr.150.2.405. PMID: 3257333

Recent clinical studies

Etiology

Siu WHS, Wang CJ, Wu CT, Wu CY, Ou LS
Pediatr Rheumatol Online J 2023 Aug 3;21(1):77. doi: 10.1186/s12969-023-00862-3. PMID: 37537687Free PMC Article
Singh DK, Kumar R, Pathak V, Kaif M, Yadav K
Br J Neurosurg 2023 Dec;37(6):1594-1603. Epub 2022 Sep 8 doi: 10.1080/02688697.2022.2118232. PMID: 36073850
Liu S, Liu B, Liang G, Chen Q, Wang H, Lin Y
J Orthop Surg Res 2022 Mar 28;17(1):183. doi: 10.1186/s13018-022-03077-6. PMID: 35346286Free 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
Tuli S, Tator CH, Fehlings MG, Mackay M
Neurosurgery 1997 Aug;41(2):368-76; discussion 376-7. doi: 10.1097/00006123-199708000-00006. PMID: 9257304

Diagnosis

Wang Y, Song C, Ji Y, Xia J, Chen C, Haque M, Zhuang J, Zhou C, Zu J, Li X, Yan J
World Neurosurg 2023 Mar;171:e1-e7. Epub 2022 Aug 29 doi: 10.1016/j.wneu.2022.08.108. PMID: 36049725
Guo J, Lu W, Ji X, Ren X, Tang X, Zhao Z, Hu H, Song T, Du Y, Li J, Shao C, Xu T, Xi Y
BMC Musculoskelet Disord 2020 Apr 14;21(1):239. doi: 10.1186/s12891-020-03273-7. PMID: 32290830Free PMC Article
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
Kim HJ
Curr Opin Pediatr 2013 Feb;25(1):72-7. doi: 10.1097/MOP.0b013e32835bd4cf. PMID: 23263023
Tuli S, Tator CH, Fehlings MG, Mackay M
Neurosurgery 1997 Aug;41(2):368-76; discussion 376-7. doi: 10.1097/00006123-199708000-00006. PMID: 9257304

Therapy

Singh DK, Kumar R, Pathak V, Kaif M, Yadav K
Br J Neurosurg 2023 Dec;37(6):1594-1603. Epub 2022 Sep 8 doi: 10.1080/02688697.2022.2118232. PMID: 36073850
Liu S, Liu B, Liang G, Chen Q, Wang H, Lin Y
J Orthop Surg Res 2022 Mar 28;17(1):183. doi: 10.1186/s13018-022-03077-6. PMID: 35346286Free PMC Article
Adogwa O, Buchowski JM, Sielatycki JA, Shlykov MA, Theologis AA, Lin J, CreveCoeur T, Peters C, Riew KD
World Neurosurg 2020 Jul;139:e496-e500. Epub 2020 Apr 18 doi: 10.1016/j.wneu.2020.04.051. PMID: 32311554
Rajinda P, Towiwat S, Chirappapha P
Eur Spine J 2017 Apr;26(4):1064-1072. Epub 2016 Oct 22 doi: 10.1007/s00586-016-4829-1. PMID: 27771789
Elliott RE, Tanweer O, Boah A, Morsi A, Ma T, Frempong-Boadu A, Smith ML
J Spinal Disord Tech 2014 Feb;27(1):11-28. doi: 10.1097/BSD.0b013e318277da19. PMID: 23128387

Prognosis

Abou-Madawi AM, Ali SH, Alaswad M, Elkazaz MK, Abdelaziz MA, AlQazzaz MY, Al-Shatoury HA
World Neurosurg 2021 Nov;155:e592-e599. Epub 2021 Aug 28 doi: 10.1016/j.wneu.2021.08.103. PMID: 34464778
Adogwa O, Buchowski JM, Sielatycki JA, Shlykov MA, Theologis AA, Lin J, CreveCoeur T, Peters C, Riew KD
World Neurosurg 2020 Jul;139:e496-e500. Epub 2020 Apr 18 doi: 10.1016/j.wneu.2020.04.051. PMID: 32311554
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
Guo SL, Zhou DB, Yu XG, Yin YH, Qiao GY
Eur Spine J 2014 Aug;23(8):1666-72. Epub 2014 Jun 18 doi: 10.1007/s00586-014-3409-5. PMID: 24938180
Tuli S, Tator CH, Fehlings MG, Mackay M
Neurosurgery 1997 Aug;41(2):368-76; discussion 376-7. doi: 10.1097/00006123-199708000-00006. PMID: 9257304

Clinical prediction guides

Singh DK, Kumar R, Pathak V, Kaif M, Yadav K
Br J Neurosurg 2023 Dec;37(6):1594-1603. Epub 2022 Sep 8 doi: 10.1080/02688697.2022.2118232. PMID: 36073850
Wang Y, Song C, Ji Y, Xia J, Chen C, Haque M, Zhuang J, Zhou C, Zu J, Li X, Yan J
World Neurosurg 2023 Mar;171:e1-e7. Epub 2022 Aug 29 doi: 10.1016/j.wneu.2022.08.108. PMID: 36049725
Liu S, Liu B, Liang G, Chen Q, Wang H, Lin Y
J Orthop Surg Res 2022 Mar 28;17(1):183. doi: 10.1186/s13018-022-03077-6. PMID: 35346286Free PMC Article
Feng SP, Wang HW, Qiao GY, Yu XG
World Neurosurg 2022 Jul;163:e98-e105. Epub 2022 Mar 18 doi: 10.1016/j.wneu.2022.03.064. PMID: 35314410
Guo J, Lu W, Ji X, Ren X, Tang X, Zhao Z, Hu H, Song T, Du Y, Li J, Shao C, Xu T, Xi Y
BMC Musculoskelet Disord 2020 Apr 14;21(1):239. doi: 10.1186/s12891-020-03273-7. PMID: 32290830Free PMC Article

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