Congenital + pseudarthrosis

BACKGROUND: The treatment of congenital curvatures (bowing) of the tibia still represents a challenging problem for all pediatric orthopedic surgeons because of its unpredictable course, especially if pseudoarthrosis occurs after a pathologic fracture of the tibia. CASE PRESENTATION: We describe the case of a child affected by an isolated curvature of his left leg. The congenital malformation was discovered at birth and no other pathological clinical finding was present...

BACKGROUND: Late presenting cases of congenital pseudarthrosis of the tibia, are further complicated with severe shortening. Limb length discrepancy (LLD) cannot be corrected by vascularized fibular grafting and the use of Ilizarov distraction is associated with a high rate of complications. The aim of this study was to report the long-term follow-up of a combined technique previously published under the name "telescoping vascularized fibular graft". MATERIALS AND METHODS: Eleven patients operated at an average age of 10...

OBJECTIVE: The purpose of this study was to evaluate the healing index and complications of distraction osteogenesis through the physis in children with Congenital pseudarthrosis of the tibia (CPT) using Ilizarov external fixation device. METHODS: Nine children with CPT who underwent distraction osteogenesis through the physis surgery with an Ilizarov external fixation device between June 2018 and August 2020 were included in the study. The average follow-up time was 36...

BACKGROUND: This study evaluated the correlation of preoperative concurrent fibular pseudarthrosis with the risk of ankle valgus deformity in patients with congenital pseudarthrosis of the tibia (CPT) who underwent successful surgical treatment. METHOD: The children with CPT who were treated at our institution between 1 January 2013 and 31 December 2020 were retrospectively reviewed. The independent variable was preoperative concurrent fibular pseudarthrosis, and the dependent variable was postoperative ankle valgus...

Background: To analyze the lncRNA-mRNA differential expression and co-expression network of periosteal stem cells (PSCs) from congenital pseudarthrosis of the tibia (CPT) and normal patients, and to explore the role of key lncRNAs. Methods: Differentially expressed lncRNAs and mRNAs in PSCs were obtained by sequencing, and biological functions of differentially expressed mRNAs were detected by gene ontology (GO), Kyoto encyclopedia of genes and genomes (KEGG) pathway and protein -protein interaction (PPI) analysis...

Although congenital pseudoarthrosis of the radius is a rare case, it has been reported many times in the literature in the past and it has been shown that it can be associated with neurofibromatosis type 1. However, traumatic radius pseudoarthrosis has never been reported before. In this case report, all treatment options were applied to the same patient over a four-year period and the results were reported. A two-year-old boy had a left radius diaphysis fracture after a simple fall, and bone union could not be achieved despite the application of cast immobilization, internal fixation grafting, and electrical stimulation in an external center...

The purpose of this study was to investigate the initial efficacy of a new telescopic rod in the treatment of congenital pseudarthrosis of tibia (CPT) in children. A new type of telescopic rod for children was designed and its clinical results were evaluated. There were nine cases of CPT on the right and six cases on the left; there were six females and nine males. The average age at operation was 35.5 months. There were 12 cases with neurofibromatosis type 1 and 4 cases with proximal tibial dysplasia...

INTRODUCTION: Congenital pseudarthrosis of tibia is an uncommon condition leading to gradually progressive deformity, shortening of the limb and disability. The condition is notorious for failure of treatment and need of multiple operations. A combination of open reduction, thorough excision of abnormal tissue at the pseudarthrosis site, intramedullary nailing, ring fixator application, and distraction to achieve bone equalization has proved successful. CASE REPORT: A case of congenital pseudarthrosis of the left tibia and fibula associated with neurofibromatosis treated by open reduction, intramedullary nailing, ring fixator application, and distraction at corticotomy to cause compression at the pseudarthrosis site and limb length equalization is being reported due to uncommon occurrence of transient hypertension in the child as a complication of ring fixator...

INTRODUCTION: Congenital pseudarthrosis of the clavicle (CPC) is a rare congenital malformation. We describe the outcomes of surgical treatment of CPC in a series of 10 patients. The hypothesis was that surgical treatment is an acceptable solution that will lead to satisfactory healing in asymptomatic patients. The aims were to determine if 1) surgical treatment of CPC will produce a satisfactory union rate, 2) surgical treatment causes complications and impacts the postoperative outcomes and 3) risk factors can be identified that affect the success of the surgical care...

OBJECTIVE: To explore the genetic basis for two children with sporadic neurofibromatosis type 1 (NF1) complicated with nephrotic syndrome (NS). METHODS: Clinical data of the children were collected. Both children were subjected to high-throughput sequencing, and candidate variants were verified by Sanger sequencing. RESULTS: Both children had café-au-lait macules, subaxillary freckle and Lisch nodules. Child 1 also had congenital tibiofibular pseudarthrosis on the left side...

To identify the hitherto unknown incidence of congenital pseudarthrosis of the clavicle (CPC), based on a cohort of continuous livebirths born in our hospital, to review the literature and investigate if there is evidence supporting the published association between left-sided CPC and dextrocardia. From our electronic medical record and radiology databases, we identified all live births and patients with the diagnosis of CPC born from 2000 to 2016. We reviewed the imaging which included one or both clavicles to search for unrecorded CPC cases and reviewed all retrievable CPC publications listed in PubMed and publications quoted within these publications going back to 1910...

Background: Congenital pseudarthrosis of the tibia (CPT) is an uncommon congenital deformity and a special subtype of bone nonunion. The lower ability of osteogenic differentiation in CPT-derived mesenchymal stem cells (MSCs) could result in progression of CPT, and miR-30a could inhibit osteogenic differentiation. However, the role of miR-30a in CPT-derived MSCs remains unclear. Methods: The osteogenic differentiation of CPT-derived MSCs treated with the miR-30a inhibitor was tested by Alizarin Red S staining and alkaline phosphatase (ALP) activity...

Congenital pseudarthrosis of the clavicle (CPC) is rare. It predominantly affects the right side for an unknown reason. Most of the reported cases are diagnosed outside the neonatal period. Only two CPC cases have been reported in Saudi Arabia, where both were diagnosed during childhood. Here, we present the case of a Saudi male newborn with right-sided CPC. The diagnosis was made shortly after birth because of the uneventful cesarean delivery and painless clavicular lump. Fetuses prefer keeping their head in a right lateral position which may be a plausible explanation for the right-side predominancy in the CPC...

Congenital pseudarthrosis of the tibia (CPT) is a rare congenital bone malformation, which has a strong relationship with Neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant disease leading to multisystem disorders. Here, we presented the genotypic and phenotypic characteristics of one unique case of a five-generation Chinese family. The proband was CPT accompanied with NF1 due to NF1 mutation. The proband developed severe early-onset CPT combined with NF1 after birth. Appearance photos and X-ray images of the left limb of the proband showed significant bone malformation...

BACKGROUND: Trisomy 21 or Down syndrome is associated with multiple orthopaedic manifestations. Although cervical instability is the most common spinal condition associated with Down syndrome, the prevalence of scoliosis has been estimated at 4.8% to 8.7%. Very few prior studies have documented the role of spinal fusion in this population, and all have included ≤10 patients. METHODS: An institutional review board-approved multicenter retrospective analysis of patients with Down syndrome treated with spinal fusion between January 2009 and December 2019 was performed by cross-referencing Current Procedural Terminology (CPT) and International Classification of Diseases, Ninth and Tenth Revisions (ICD-9 and ICD-10) codes...

BACKGROUND: Congenital pseudarthrosis of the tibia (CPT) is a challenging problem in orthopedic practice, with high rates of non-union, refracture, and residual deformities. After union, long-term follow-up is required to manage late post-union complications. This study aimed to assess the outcomes of the Ilizarov technique in the management of CPT. MATERIALS AND METHODS: This retrospective study included patients with CPT treated with the Ilizarov method between 2005 and 2018...

Background: Congenital pseudarthrosis of the tibia (CPT) is a refractory and rare disease. Because of its extremely low incidence, little is known about its clinical features. In this retrospective study, we aim to analyze the clinical characteristics of patients with CPT. Materials and methods: This is a retrospective study of children with CPT identified by the radiological review. Investigations of CPT included general conditions, the characteristics of CPT, treatment methods, and surgical complications...

OBJECTIVE: This study aimed to investigate the factors associated with behavioral problems in children with congenital pseudarthrosis of the tibia. METHODS: Random sampling is utilized to obtain a sample of 90 patients. The behavioral problems of the patients are detected by Achenbach Children's Behavior Scale. Parental emotional problems are investigated by the Self-Rating Depression Scale and Self-Rating Anxiety Scale. RESULTS: The results demonstrate that the detection rate of behavioral problems in children with congenital pseudarthrosis of the tibia is 53...

RATIONALE: The exact etiology and pathogenesis of CPT are not clear. Quantitative proteomics analysis plays a vital role in disease pathology research. TMT-based proteomics technique were employed to identify and analyze the differentially expressed proteins in the tibia periosteum tissues of CPT. METHODS: The samples were divided into three groups: CPT with NF1 group, CPT without NF1 group (non-NF1-CPT), and control group (patients with open tibial fracture). A fold change ≥ 1...

OBJECTIVE: There has been a lack of suitable epiphysis blocking materials due to the characteristics of less tissue coverage and narrow epiphysis in children's distal tibial medial malleolus. Therefore, this study is to investigate the clinical efficacy and safety of a new "U"-shaped staple in the treatment of postoperative ankle valgus of congenital pseudarthrosis of the tibia (CPT). METHOD: According to the inclusion and exclusion criteria, 33 patients with postoperative ankle valgus of CPT were treated with new "U"-shaped staples from May 2013 to September 2019...