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Orthopaedic manifestations of neurofibromatosis type 1: A case report

  • Authors:
    • Florentina Năstase
    • Diana Sabina Radaschin
    • Elena Niculeț
    • Andrei Vlad Brădeanu
    • Mădălina Codruța Verenca
    • Aurel Nechita
    • Valentin Chioncel
    • Lawrence Chukwudi Nwabudike
    • Liliana Baroiu
    • Eduard Drima Polea
    • Silvia Fotea
    • Lucretia Anghel
    • Alexandru Nechifor
    • Alin Laurenţiu Tatu
  • View Affiliations / Copyright

    Affiliations: Department of Neuropsychomotor Rehabilitation, ‘Sf. Ioan’ Clinical Hospital for Children, 800487 Galati, Romania, Clinical Medical Department, Faculty of Medicine and Pharmacy, ‘Dunarea de Jos’ University, 800010 Galati, Romania, Department of Morphological and Functional Sciences, Faculty of Medicine and Pharmacy, ‘Dunarea de Jos’ University, 800010 Galati, Romania, Department of Neuropsychomotor Rehabilitation, ‘Sf. Ioan’ Clinical Hospital for Children, 800487 Galați, Romania, Department of Pediatrics, ‘Sf. Ioan’ Clinical Hospital for Children, 800487 Galati, Romania, Cardio‑thoracic Department, ‘Carol Davila’ University of Medicine and Pharmacy, 020021 Bucharest, Romania, Department of Diabetic Foot Care, ‘N. Paulescu’ National Institute of Diabetes, 011233 Bucharest, Romania, Medical Clinical Department, Faculty of Medicine and Pharmacy, ‘Dunarea de Jos’ University, 800010 Galati, Romania
    Copyright: © Năstase et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 135
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    Published online on: December 13, 2021
       https://doi.org/10.3892/etm.2021.11058
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Abstract

Neurofibromatosis type 1 (NF1) or von Recklinghausen disease is one of the most common autosomal dominant genetic diseases. It is characterized by ‘café‑au‑lait’ spots and multiple tumors starting from the central and peripheric nervous system. The diagnosis is determined on two out of seven criteria: i) A total of 6 or more light brown spots larger than 5 mm in diameter (pre‑puberty) or 15 mm in diameter (post‑puberty); ii) a total of 2 or more neurofibromas or one plexiform neurofibroma; iii) axillary or inguinal freckling; iv) optic glioma; v) a total of 2 or more Lisch nodules; vi) bone abnormalities: tibia pseudarthrosis or dysplasia of the sphenoid wing; and vii) a relative of first degree having an NF1 diagnosis. A total of ~50% of patients have significant musculoskeletal manifestation, with scoliosis and congenital pseudarthrosis of tibia most common. Management of the orthopaedic manifestations of NF1 is often difficult. Due to NF1 influencing multiple organ systems, patients are likely to benefit most from a multidisciplinary treatment strategy.
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Copy and paste a formatted citation
Spandidos Publications style
Năstase F, Radaschin DS, Niculeț E, Brădeanu AV, Verenca MC, Nechita A, Chioncel V, Nwabudike LC, Baroiu L, Polea ED, Polea ED, et al: Orthopaedic manifestations of neurofibromatosis type 1: A case report. Exp Ther Med 23: 135, 2022.
APA
Năstase, F., Radaschin, D.S., Niculeț, E., Brădeanu, A.V., Verenca, M.C., Nechita, A. ... Tatu, A.L. (2022). Orthopaedic manifestations of neurofibromatosis type 1: A case report. Experimental and Therapeutic Medicine, 23, 135. https://doi.org/10.3892/etm.2021.11058
MLA
Năstase, F., Radaschin, D. S., Niculeț, E., Brădeanu, A. V., Verenca, M. C., Nechita, A., Chioncel, V., Nwabudike, L. C., Baroiu, L., Polea, E. D., Fotea, S., Anghel, L., Nechifor, A., Tatu, A. L."Orthopaedic manifestations of neurofibromatosis type 1: A case report". Experimental and Therapeutic Medicine 23.2 (2022): 135.
Chicago
Năstase, F., Radaschin, D. S., Niculeț, E., Brădeanu, A. V., Verenca, M. C., Nechita, A., Chioncel, V., Nwabudike, L. C., Baroiu, L., Polea, E. D., Fotea, S., Anghel, L., Nechifor, A., Tatu, A. L."Orthopaedic manifestations of neurofibromatosis type 1: A case report". Experimental and Therapeutic Medicine 23, no. 2 (2022): 135. https://doi.org/10.3892/etm.2021.11058
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x
Spandidos Publications style
Năstase F, Radaschin DS, Niculeț E, Brădeanu AV, Verenca MC, Nechita A, Chioncel V, Nwabudike LC, Baroiu L, Polea ED, Polea ED, et al: Orthopaedic manifestations of neurofibromatosis type 1: A case report. Exp Ther Med 23: 135, 2022.
APA
Năstase, F., Radaschin, D.S., Niculeț, E., Brădeanu, A.V., Verenca, M.C., Nechita, A. ... Tatu, A.L. (2022). Orthopaedic manifestations of neurofibromatosis type 1: A case report. Experimental and Therapeutic Medicine, 23, 135. https://doi.org/10.3892/etm.2021.11058
MLA
Năstase, F., Radaschin, D. S., Niculeț, E., Brădeanu, A. V., Verenca, M. C., Nechita, A., Chioncel, V., Nwabudike, L. C., Baroiu, L., Polea, E. D., Fotea, S., Anghel, L., Nechifor, A., Tatu, A. L."Orthopaedic manifestations of neurofibromatosis type 1: A case report". Experimental and Therapeutic Medicine 23.2 (2022): 135.
Chicago
Năstase, F., Radaschin, D. S., Niculeț, E., Brădeanu, A. V., Verenca, M. C., Nechita, A., Chioncel, V., Nwabudike, L. C., Baroiu, L., Polea, E. D., Fotea, S., Anghel, L., Nechifor, A., Tatu, A. L."Orthopaedic manifestations of neurofibromatosis type 1: A case report". Experimental and Therapeutic Medicine 23, no. 2 (2022): 135. https://doi.org/10.3892/etm.2021.11058
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