ArticleJournal of orthopaedic case reports2024
Tibial Dysplasia in Neurofibromatosis-1: A Rare Case Report and Review of Literature.
Article in Journal of orthopaedic case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed, 0 citations in OpenAlex.
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Orphanet journal of rare diseases · 2026Review
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
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Abstract
Background: Neurofibromatosis-1 (NF-1) is a neurocutaneous disorder, primarily affecting the skin and nervous system. Concomitant multi-system involvement is also seen. Orthopedic manifestations of NF-1 are one area that is understudied and underreported, highlighting the importance of this case report. Case Report: A 16-year-old male presented with painless swelling on the posteromedial aspect of the lower right tibia, which was confirmed to be a dysplastic mass on biopsy. Physical examination also revealed cafe au lait macules and axillary freckling, leading to a diagnosis of NF-1. Discussion: Bony lesions in NF-1 patients mainly include the spine and tibia. Congenital tibial dysplasia is commonly associated with NF-1 and may progress to pseudoarthrosis if early management is not started. Treatment modalities include excision, bracing, and fixation. Conclusion: Further research is required to have a more comprehensive view of NF-1 and orthopedics, to diagnose and manage such bony complications.
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