Clinical Neurology and Neuroscience

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A Case of VACTERL Association Complicated with Multiple Rib Abnormalities

Received: Dec. 17, 2019    Accepted: Dec. 27, 2019    Published: Feb. 04, 2020
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Abstract

VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Rib abnormalities have rarely been reported with the VACTERL association. The second case of VACTERL association complicated with multiple rib abnormalities will be reported in this case report. A 4-year-old girl who had been diagnosed with congenital cardiovascular disease and received surgical corrections soon after birth consulted our institution by complaining congenital scoliosis. The little girl was diagnosed with VACTERL association (congenital cardiovascular disease, scoliosis with hemivertebra and butterfly vertebra, and nephrolithiasis) and congenital multiple rib abnormalities. The Cobb angle of the main curve was 29.3° before surgery, 19.9° after surgery, and 23° at last follow-up. Multiple rib abnormalities may be seen in the VACTERL association. Clinicians should have a high index of suspicion when evaluating patients with rib abnormalities associated with VACTERL. It is extremely necessary for careful physical examination and detailed auxiliary examination to each system (including echocardiography, computed tomography, magnetic resonance imaging, and so on) when diagnosing VACTERL association. Also, recognizing and understanding the congenital multiple system malformation is important, which aids in the diagnosis of disease and accordingly plan the therapeutic interventions. Early diagnosis of congenital scoliosis with appropriate surgical intervention decreases long-term morbidity.

DOI 10.11648/j.cnn.20200401.11
Published in Clinical Neurology and Neuroscience ( Volume 4, Issue 1, March 2020 )
Page(s) 1-4
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

VACTERL Association, Rare Diseases, Rib Abnormalities

References
[1] Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis. 2011. 6: 56.
[2] Chen Y, Liu Z, Chen J, et al. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet. 2016. 53: 4317.
[3] Yang L, Li S, Zhong L, et al. VACTERL association complicated with multiple airway abnormalities: A case report. Medicine 2019, 98 (42): e17413.
[4] Nezarati M, McLeod D. VACTERL manifestations in two generations of a family. Am J Med Genet. 1999. 82: 402.
[5] Xu GQ, Zhou QC, Zhang M, et al. TACRD and VACTERL associations in a fetus: case report and review of the literature. Int J Pediatr Otorhinolaryngol. 2013. 77: 20815.
[6] Behera B, Shaw S, Raj R. Vacterls association with pulmonary arterial hypertension and least vertebral anomaly. YUVA J Med Sci. 2015. 1: 2830.
[7] Raam MS, Pineda-Alvarez DE, Hadley DW, et al. Long-term outcomes of adults with features of VACTERL association. Eur J Med Genet. 2011. 54: 3441.
[8] McMaster M. J., Singh H. Natural History of Congenital Kyphosis and Kyphoscoliosis. A Study of One Hundred and Twelve Patients. The Journal of Bone & Joint Surgery. 1999. 81 (10): 1367–1383.
[9] Ruf M., Harms J. Hemivertebra resection by a posterior approach: innovative operative technique and first results. Spine. 2002. 27 (10): 1116–1123.
[10] Holte D. C., Winter R. B., Lonstein J. E., Denis F. Excision of hemivertebrae and wedge resection in the treatment of congenital scoliosis. The Journal of Bone & Joint Surgery. 1995. 77 (2): 159–171.
[11] Jalanko T., Rintala R., Puisto V., Helenius I. Hemivertebra resection for congenital scoliosis in young children: comparison of clinical, radiographic, and health-related quality of life outcomes between the anteroposterior and posterolateral approaches. Spine. 2011. 36 (1): 41–49.
[12] Yaszay B., O'Brien M., Shufflebarger H. L., et al. Efficacy of hemivertebra resection for congenital scoliosis: a multicenter retrospective comparison of three surgical techniques. Spine. 2011. 36 (24): 2052–2060.
[13] Erturer, R. E., et al. The Results of Hemivertebra Resection by the Posterior Approach in Children with a Mean Follow-Up of Five Years. Adv Orthop. 2017: 4213413.
[14] Ruf, M. and J. Harms. Posterior hemivertebra resection with transpedicular instrumentation: early correction in children aged 1 to 6 years. Spine. 2003. 28 (18): 2132-2138.
[15] Fekete, T. F., et al. Congenital malformations of the growing spine: When should treatment be conservative and when should it be surgical? Orthopade. 2016.45 (6): 518-526.
[16] Zhu X, Wei X, Chen J, et al. Posterior hemivertebra resection and monosegmental fusion in the treatment of congenital scoliosis. Ann R Coll Surg Engl. 2014. 96 (1): 41–44.
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  • APA Style

    Zeng Zhiguo, Zhang Guowei, Ji Zhisheng, Yang Yuhao, Yang Hua, et al. (2020). A Case of VACTERL Association Complicated with Multiple Rib Abnormalities. Clinical Neurology and Neuroscience, 4(1), 1-4. https://doi.org/10.11648/j.cnn.20200401.11

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    ACS Style

    Zeng Zhiguo; Zhang Guowei; Ji Zhisheng; Yang Yuhao; Yang Hua, et al. A Case of VACTERL Association Complicated with Multiple Rib Abnormalities. Clin. Neurol. Neurosci. 2020, 4(1), 1-4. doi: 10.11648/j.cnn.20200401.11

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    AMA Style

    Zeng Zhiguo, Zhang Guowei, Ji Zhisheng, Yang Yuhao, Yang Hua, et al. A Case of VACTERL Association Complicated with Multiple Rib Abnormalities. Clin Neurol Neurosci. 2020;4(1):1-4. doi: 10.11648/j.cnn.20200401.11

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  • @article{10.11648/j.cnn.20200401.11,
      author = {Zeng Zhiguo and Zhang Guowei and Ji Zhisheng and Yang Yuhao and Yang Hua and Lin Hongsheng},
      title = {A Case of VACTERL Association Complicated with Multiple Rib Abnormalities},
      journal = {Clinical Neurology and Neuroscience},
      volume = {4},
      number = {1},
      pages = {1-4},
      doi = {10.11648/j.cnn.20200401.11},
      url = {https://doi.org/10.11648/j.cnn.20200401.11},
      eprint = {https://download.sciencepg.com/pdf/10.11648.j.cnn.20200401.11},
      abstract = {VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Rib abnormalities have rarely been reported with the VACTERL association. The second case of VACTERL association complicated with multiple rib abnormalities will be reported in this case report. A 4-year-old girl who had been diagnosed with congenital cardiovascular disease and received surgical corrections soon after birth consulted our institution by complaining congenital scoliosis. The little girl was diagnosed with VACTERL association (congenital cardiovascular disease, scoliosis with hemivertebra and butterfly vertebra, and nephrolithiasis) and congenital multiple rib abnormalities. The Cobb angle of the main curve was 29.3° before surgery, 19.9° after surgery, and 23° at last follow-up. Multiple rib abnormalities may be seen in the VACTERL association. Clinicians should have a high index of suspicion when evaluating patients with rib abnormalities associated with VACTERL. It is extremely necessary for careful physical examination and detailed auxiliary examination to each system (including echocardiography, computed tomography, magnetic resonance imaging, and so on) when diagnosing VACTERL association. Also, recognizing and understanding the congenital multiple system malformation is important, which aids in the diagnosis of disease and accordingly plan the therapeutic interventions. Early diagnosis of congenital scoliosis with appropriate surgical intervention decreases long-term morbidity.},
     year = {2020}
    }
    

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    AU  - Zeng Zhiguo
    AU  - Zhang Guowei
    AU  - Ji Zhisheng
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    SN  - 2578-8930
    UR  - https://doi.org/10.11648/j.cnn.20200401.11
    AB  - VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Rib abnormalities have rarely been reported with the VACTERL association. The second case of VACTERL association complicated with multiple rib abnormalities will be reported in this case report. A 4-year-old girl who had been diagnosed with congenital cardiovascular disease and received surgical corrections soon after birth consulted our institution by complaining congenital scoliosis. The little girl was diagnosed with VACTERL association (congenital cardiovascular disease, scoliosis with hemivertebra and butterfly vertebra, and nephrolithiasis) and congenital multiple rib abnormalities. The Cobb angle of the main curve was 29.3° before surgery, 19.9° after surgery, and 23° at last follow-up. Multiple rib abnormalities may be seen in the VACTERL association. Clinicians should have a high index of suspicion when evaluating patients with rib abnormalities associated with VACTERL. It is extremely necessary for careful physical examination and detailed auxiliary examination to each system (including echocardiography, computed tomography, magnetic resonance imaging, and so on) when diagnosing VACTERL association. Also, recognizing and understanding the congenital multiple system malformation is important, which aids in the diagnosis of disease and accordingly plan the therapeutic interventions. Early diagnosis of congenital scoliosis with appropriate surgical intervention decreases long-term morbidity.
    VL  - 4
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Author Information
  • Department of Orthopedics, The First Affiliated Hospital of Jinan University, Jinan, China

  • Department of Orthopedics, The First Affiliated Hospital of Jinan University, Jinan, China

  • Department of Orthopedics, The First Affiliated Hospital of Jinan University, Jinan, China

  • Department of Orthopedics, The First Affiliated Hospital of Jinan University, Jinan, China

  • Department of Orthopedics, The First Affiliated Hospital of Jinan University, Jinan, China

  • Department of Orthopedics, The First Affiliated Hospital of Jinan University, Jinan, China

  • Section