Congenital pseudarthrosis tibia

BACKGROUND: Re-fracture is the most serious complication in congenital pseudarthrosis of the tibia (CPT). There are reports that children with small cross-sectional areas in the sections of the pseudarthrosis are more prone to re-fracture. Presently, preventing complications is a challenge. Increasing the cross-sectional area in healed segments may reduce the incidence of re-fracture. PURPOSE: To elucidate the indications, surgical technique, and outcomes of combined surgery and 3-in-1 osteosynthesis in CPT with intact fibula...

Purpose: The goal of this study is to evaluate the treatment outcomes of anterolateral bowing and residual deformities of distal tibia in patients with CPT using circular external fixation and hydroxyapatite coated flexible intramedullary nailing without excision of affected part of tibia. Patients and methods: Six patients (4 boys and 2 girls, mean age 12.4 ± 4.1 years) were included in the study. Mean follow-up is 2.1 years. In 4 patients with early onset of disease initial surgical treatment (at age of 5-8 years) was dysplastic zone or pseudarthrosis resection with proximal metaphyseal osteotomy for bone transport...

Background: Treatment of Congenital Psuedarthrosis of Tibia (CPT) often poses significant challenges due to difficulty in achieving union and subsequent complications like refractures, implant failures, etc. Our new comprehensive protocol is aimed at achieving crossunion between the tibia and fibula. Aims and objectives: The aim of the present study is to evaluate the short-term results of our new protocol and to compare the results with our previously used techniques...

BACKGROUND: Congenital pseudarthrosis of the tibia (CPT) is a rare disease. Some patients present neurofibromatosis type 1 (NF1), while some others do not manifest NF1 (non-NF1). The etiology of CPT, particularly non-NF1 CPT, is not well understood. Here we screened germline variants of 75 CPT cases, including 55 NF1 and 20 non-NF1. Clinical data were classified and analyzed based on NF1 gene variations to investigate the genotype-phenotype relations of the two types of patients. RESULTS: Using whole-exome sequencing and Multiplex Ligation-Dependent Probe Amplification, 44 out of 55 NF1 CPT patients (80...

Congenital pseudarthrosis of the tibia is defined as a non-union of a tibial fracture that develops in a dysplastic bone segment of the tibial diaphysis. Pathologically, a fibrous hamartoma surrounds the bone at the congenital pseudarthrosis of the tibia site. The cases of 25 children, who have congenital pseudarthrosis of the tibia, were included in this study. Their ages ranged from 15 months to 15 years at the time of treatment. Neurofibromatosis-1 was present in 24 children. They were managed according to our classification system and treatment protocol...

Objective: Although our knowledge of bone reconstruction through microsurgery has increased, the vascularized fibula flap remains one of the most difficult free flap reconstructions to perform, and complications remain a challenge. The incidence of obesity is increasing and is associated with higher rates of free flap complications, which can lead to disastrous results. Since there is no consensus in literature regarding the influence of obesity on free flap outcomes in orthopedic surgeries that require segmental bone reconstruction, the objective of this study was to determine whether obesity increases the risk of post-operative complications (Clavien-Dindo grade III) after free vascularized fibular flap surgery...

PURPOSE: To examine the efficacy, safety, and clinical outcomes of distraction osteogenesis through the physis (PDO) or through subphyseal osteotomy (SPDO) in patients with atrophic-type congenital pseudarthrosis of tibia with proximal tibial dysplasia. METHODS: To validate the efficacy and safety of PDO and SPDO, radiographic and clinical parameters were compared between 5 patients who underwent proximal tibial metaphyseal or metadiaphyseal lengthening as a control (group 1) and 7 patients who underwent PDO or SPDO (group 2)...

Background: This study assessed the outcomes, at skeletal maturity, for 34 patients in whom congenital pseudarthrosis of the tibia (CPT) had been treated with intramedullary (IM) rod fixation. Methods: The results in skeletally mature patients in whom type-4 CPT had been treated with an IM rod at an average of 11.9 years earlier were reviewed. The rod procedures varied according to whether both the tibia and the fibula were resected and both bones (type A) or just the tibia (type B) were fixed with an IM rod or whether only the tibia was resected and the fibula received no surgery (type C)...

We report a rare limb defect named as fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome in a female monozygotic twin with a normal twin sister, presented with anterior tibia pseudarthrosis, oligosyndactyly, and pes equinovarus. Radiographic examination displayed the absence of left fibulae, anterolateral pseudarthrosis of left tibia, and the absence of some metatarsus and phalangeal bones. Our case report is the first to report that only one of the identical twins was affected by FATCO syndrome, which is a significant finding because the pathogenicity of FATCO syndrome is yet to be identified, and this clinical case may provide a new insight for discovering the etiology of FATCO syndrome...

UNLABELLED: Congenital pseudarthrosis of the tibia (CPT) is likely to be a primary periosteal disease and secondary bone disease. The primary goal of treatment is to obtain union, correct the diaphyseal deformity, correct any proximal fibular migration and prevent refracture. The pathobiology demonstrates increased osteoclasis by the surrounding fibrous hamartoma and reduced osteogenesis and bone morphogenic protein production by the bone. This leads to a loss of remodelling potential and gradual bowing and atrophy of the bone with eventual fracture of the tibia and or fibula...

Congenital pseudarthrosis of tibia is a genetic, systemic pathology with impaired bone remodeling and unknown pathogenetic mechanisms. Orthopaedic treatment of the disease can fail in some cases. The process of bone remodeling is known to occur under control of local and systemic growth factors, and we sought to explore several osteotropic growth factors, markers of osteogenesis and biologically active molecules in the blood serum of patients with congenital pseudarthrosis of tibia. The study included 12 patients with congenital pseudarthrosis of tibia and anatomical shortening of 2...

RATIONALE: According to previously published studies, treating pediatric patients with congenital pseudarthrosis of the tibia (CPT) is challenging. More effective methods are needed to treat this patient population. PATIENT CONCERNS: A 7-year-old girl with congenital pseudarthrosis of the distal tibia, previously misdiagnosed as a fracture, underwent plate fixation. Unfortunately, the steel plate broke after 3 months, which led to ankle angle deformity. DIAGNOSES: Congenital pseudarthrosis of the tibia...

BACKGROUND: Successful radiographic union in the treatment of congenital pseudarthrosis of the tibia (CPT) may be complicated by persistent pain, recurrent fracture, and poor function necessitating further intervention, including amputation. The long-term functional, radiographic, and clinical outcomes of patients who have undergone amputation as treatment for CPT are unknown. METHODS: A retrospective study of patients with a diagnosis of CPT secondary to neurofibromatosis and eventual treatment with amputation were included...

To compare the current treatments for congenital pseudarthrosis of tibia, a total of 33 studies were reviewed. Vascularized fibular graft with external fixation or combined fixation had the fastest time till initial union (P<0.05). Bone morphogenetic protein had no advantage in terms of initial union, time till union, and refracture rates. This meta-analysis supports that fixation methods with corticocancellous bone autograft utilizing the combined technique of Ilizarov external fixation and intramedullary rod stabilization ensure a statistically significant reduction in the number of refractures compared with standalone fixation methods and would be the preferred method for preventing long-term complications in patients with congenital pseudarthrosis of tibia...

OBJECTIVE: To identify factors influencing union of congenital pseudarthrosis of the tibia (CPT), refractures, and integrity of the tibia at maturity. METHODS: Data of 119 children operated for Crawford-type IV CPT and followed-up till skeletal maturity were analyzed. Logistic regression and recursive partitioning analyses were used to test associations between several variables and the outcome. RESULTS: Primary union occurred in 86% of children...

To date poor treatment options are available for patients with congenital pseudarthrosis of the tibia (CPT), a pediatric orphan disease. In this study we have performed an in silico clinical trial on 200 virtual subjects, generated from a previously established model of murine bone regeneration, to tackle the challenges associated with the small, pediatric patient population. Each virtual subject was simulated to receive no treatment and bone morphogenetic protein (BMP) treatment. We have shown that the degree of severity of CPT is significantly reduced with BMP treatment, although the effect is highly subject-specific...

OBJECTIVE: Treatment of congenital pseudarthrosis of the tibia (CPT) remains a challenge. The autogenic iliac bone graft is important consistent of treatment for CPT. The purpose of this study was to investigate the role of wrapping autogenic iliac bone graft in improvement of the curing opportunities of CPT. METHODS: We combined Ilizarov fixator with intramedullary rodding of the tibia and wrapping autogenic iliac bone graft for treatment 51 cases of CPT between 2007 and 2010...

An 18-year-old male with neurofibromatosis type I was treated for congenital pseudarthrosis of the tibia using the Masquelet induced-membrane technique with internal fixation by retrograde implantation of a transplantar intramedullary nail. Bone healing was obtained at the expense of malunion with external rotation and 5.5cm of lower limb shortening. A motorised intramedullary-lengthening nail (Fitbone® , Wittenstein, Igersheim, Germany) was implanted. This treatment was successful in correcting the rotational malalignment and limb length discrepancy...

OBJECTIVES: Flexion and extension osteotomy of the knee for symptomatic malalignment in the sagittal plane. INDICATIONS: Congenital/posttraumatic bony deficiencies in flexion/pathologic hyperextension in the knee. Additional treatment for ligament reconstruction. CONTRAINDICATIONS: Absolute: Infection, critical soft tissue situation, circulatory disorders. Relative: Osteoporosis, heavy smoker, obesity, reduced patient compliance. SURGICAL TECHNIQUE: Diagnostic arthroscopy of the knee...

Neurofibromatosis type 1 (NF1) is a commonly occurring genetic disorder in children. Mutation in the NF1 gene has its implication in poor osteoblastic capabilities. We hypothesised that pamidronate will enhance the osteoblastic potential of the mesenchymal stem cells (MSCs) derived from lipofibromatosis tissue of children with congenital pseudarthrosis tibia (CPT) associated with NF1. In this study, bone marrow MSCs (BM MSCs) and CPT MSCs were obtained from three patients undergoing salvage surgeries/bone grafting (healthy controls) and those undergoing excision of the hamartoma and corrective surgeries respectively...