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We report 2 patients with congenital pseudoarthrosis of the tibia who underwent intramedullary Rush rod transfixation through the ankle joint following refracture and nonunion of vascularised fibular grafting 6 and 8 months earlier. After 9 and 5 years, both Rush rods were broken at the level of the ankle joints, while the reconstructed area was solidly united. The growth of the distal tibia increased the distance of the tips of the broken rod and hence the ankle joint motion. The broken tips may damage the articular cartilage and result in valgus deformity of the ankle and limb length discrepancy.
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http://dx.doi.org/10.1177/230949901101900226 | DOI Listing |
Orphanet J Rare Dis
July 2025
Department of Orthopedics, Hunan Children's Hospital, NO.86 Ziyuan Road, Yuhua District, Changsha City, 410007, Hunan Province, China.
Background: The combined surgery with tibial intramedullary (IM) rod fixation across the ankle for the treatment of Crawford IV congenital pseudarthrosis of the tibia (CPT) is the most classic and effective surgical treatment method. The aim of this study is to explore the long-term clinical efficacy of combined surgery for the treatment of Crawford IV congenital pseudarthrosis of the tibia (CPT).
Methods: A retrospective analysis was conducted on 82 cases of Crawford IV CPT that underwent combined surgical treatment with tibial IM rod fixation through the ankle, to evaluate their long-term clinical efficacy and postoperative complications.
J Am Acad Orthop Surg Glob Res Rev
July 2025
From the Department of Orthopedics, College of Medicine, King Saud University, Riyadh, Saudi Arabia (Dr. Alshayhan), and the Shriners Hospital for Children, Montreal, Quebec, Canada (Dr. Hamdy).
Neurofibromatosis type 1 (NF-1) leads to cutaneous, neurological, and musculoskeletal manifestations. Congenital pseudarthrosis of the tibia treatment is considered aggressive in achieving bone union. Most of those patients get a short limb at the end of treatment because of pathological bone resection and malalignment.
View Article and Find Full Text PDFJBJS Rev
June 2025
International Center for Limb Lengthening, Sinai of Baltimore, Baltimore, Maryland.
» NF1 Link and Pathophysiology: Congenital pseudarthrosis of the tibia (CPT) is strongly associated with neurofibromatosis type 1 (NF1), where loss of normal NF1 gene function impairs bone formation and promotes fibrous hamartoma, resulting in recurrent tibial nonunion.» Classifications and Diagnostics: Multiple radiographic classifications (Andersen, Crawford, Boyd, Paley, etc.) guide clinical decision making, while newer imaging (magnetic resonance imaging, quantitative ultrasound) refines diagnosis and helps tailor interventions.
View Article and Find Full Text PDFOrphanet J Rare Dis
June 2025
Department of Pediatric Orthopedics, Hunan Provincial Key Laboratory of Pediatric Orthopedics, The Affiliated Children's Hospital of Xiangya School of Medicine (Hunan Children's Hospital), Central South University, Changsha, 410007, Hunan, People's Republic of China.
Background: Congenital pseudarthrosis of the tibia (CPT, HP:0009736), commonly known as bowing of the tibia, is a rare congenital tibia malformation characterized by spontaneous tibial fractures and difficulty in reunion after tibial fractures during early childhood, with a prevalence between 1/250,000 and 1/140,000. While 80%-84% of CPT cases present with neurofibromatosis type 1, caused by the variations in the NF1 gene, the underlying cause of CPT remains unclear. Considering its congenital nature and the low prevalence, we hypothesized that the rare genomic protein-damaging variations may contribute to CPT.
View Article and Find Full Text PDFBiochem Biophys Res Commun
June 2025
The School of Pediatrics, University of South China, Hunan, 410007, PR China; The Affiliated Children's Hospital of Xiangya School of Medicine, Central South University(Hunan Children's Hospital), Hunan Provincial Key Laboratory of Pediatric Orthopedics, Hunan, 410007, PR China; Furong Laboratory, C
Background: Congenital pseudarthrosis of the tibia (CPT) is one of the most challenging conditions in orthopedics. Previous research indicates a strong association between CPT and neurofibromatosis type 1 (NF1). The clinical application of pamidronate has demonstrated efficacy in enhancing bone healing and alleviating NF1-associated bone pathology in specific CPT cases.
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