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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., Methods: Ten patients with CPC who were treated by resection and bone grafting were included in this case series. The CPC was always in the right clavicle. All patients except one were asymptomatic preoperatively. The mean age at the time of the procedure was 5.1 years (range, 1.7-13.4). The initial fixation consisted of a K-wire in 9 patients and a plate in 1 patient. Iliac crest autograft was harvested in all patients. The mean length of postoperative immobilization was 10 weeks (range, 6-18 weeks)., Results: At a mean follow-up of 29 months (range, 3-129 months), all patients were pain-free and had full range of motion. Bone union was achieved in 70% (7/10) after revision at a mean of 3.8 months (range, 1.1-13.3). Three clavicles did not heal, two of which had been revised surgically. Four patients suffered a complication: three cases of K-wire migration and one case of infection. Among them, two patients had the fixation changed to a plate while preserving the graft, while the fixation device was removed in two patients, one of whom was undergoing revision for infection. The patients who had complications were all under 5 years of age at the time of surgery (mean 3.7 years; range 1.7-5 years)., Conclusion: Surgical treatment of CPC generates a moderate union rate with a complication risk that is not insignificant. Age at the time of surgery appears to affect the outcomes. Thus, we propose waiting until the patient is at least 5 years of age before implementing surgical treatment., Level of Evidence: IV, Retrospective study., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)

Pure vascularized periosteal transplants have been shown to be extremely effective at achieving rapid bone healing in children with biologically complex non-union. Free tibial and fibular periosteal transplants are generally indicated when large periosteal flaps are necessary. We report using a vascularized femoral myo-periosteal graft (VFMPG) to treat distal tibial osteotomy non-union in a six-year-old boy with congenital pseudarthrosis of the tibia. The graft consisted of a 9 cm myo-periosteal flap (after 50% of elastic retraction) that incorporated the vastus intermedius muscle and diaphyseal femoral periosteum nourished by the descending branch of the lateral circumflex femoral vessels. Plantaris medialis was used as a recipient vessel. Healing occurred 10 weeks after surgery. The patient resumed gait and sports activity without orthosis. No donor or recipient site complications occurred 17 months after surgery. Employing a VFMPG might be an alternative to other free or large vascularized periosteal flaps currently in use for complex pediatric non-unions., (© 2024 Wiley Periodicals LLC.)

Objective: To investigate the clinical and radiologic characteristics of children with congenital pseudarthrosis of the tibia (CPT) in a single center. Methods: This is a retrospective case series study. According to inclusion and exclusion criteria, clinical data of 497 children(507 limbs) with CPT who were treated at Department of Orthopedics, the Children's Hospital Affiliated to Xiangya School of Medicine, Central South University from January 2011 to December 2020 were collected. Baseline data included gender, age at initial visit, age at onset of symptoms, accompanying symptoms, domicile, whether first treated at our hospital, and treatment-related information such as surgical or conservative treatment, surgical complications, etc., were extracted and analyzed using the health information system. Imaging data of the children, including Crawford classification, bilateral leg lengths, presence of fibular pseudarthrosis, and location of pseudarthrosis along the tibia segment, were analyzed using the Picture Archiving and Communication System. Data were compared using independent sample t test or χ 2 tests. Results: Among 497 children with CPT, there were 305 males (61.4%) and 192 females (38.6%). The age at initial visit was (3.6±3.2) years (range: 0.1 to 16.2 years). Neurofibromatosis type 1 (NF1) symptoms were positive in 340 children (68.4%), and negative in 157 children (31.6%). Among NF1-positive children, those with symptoms onset before 1 year of age were significantly more than NF1-negative children (74.1%(252/340) vs . 66.2%(104/157); χ 2 =9.24, P =0.001), and the proportion of fractures (92.9%,316/340) was significantly higher than that in the NF1-negative group (84.7%,133/157) ( χ 2 =8.33, P =0.004). According to imaging data, Crawford type Ⅳ was the most common type, with 321 limbs (63.3%), followed by type Ⅱ in 100 limbs (19.7%), type Ⅲ in 54 limbs (10.7%) and type Ⅰ in 32 limbs (6.3%). Pseudarthrosis occurred in the proximal third of the tibia in 14 limbs (2.8%), in the middle third in 185 limbs (36.5%), and in the distal third in 308 limbs (60.8%). Seventy-four children (14.9 %) had associated fibular pseudarthrosis. The lateral proximal tibial angle was 86.91°±5.21°(range: 72.17° to 102.08°), and the lateral distal tibial angle was 87.27°±10.73°(range: 51.07° to 128.17°). A total of 421 children (84.7%) underwent surgical treatment with (3.1±2.4) surgeries performed per child (range:0 to 12 surgeries); 76 children (15.3%) received conservative treatment. Postoperative complications mainly included ankle valgus (77 cases), leg length discrepancy (71 cases),refracture (48 cases), osteomyelitis (11 cases), and hardware failure (10 cases). NF1-positive children underwent more surgeries than NF1-negative children ((5.1±2.2)times vs .(2.1±1.8)times; t =14.93, P <0.01). Conclusions: Crawford type Ⅳ is the most common type of CPT in children in this study. CPT predominantly occurs in the middle or distal third of the tibia. The majority of children with CPT experienced symptoms and were seen at outpatient clinics before the age of 3 years. The main surgical complications currently associated with CPT treatment are ankle valgus and leg length discrepancy. Compared with CPT without NF1, children with NF1-positive CPT tend to have earlier symptom onset and may require more frequent treatments.

Congenital pseudarthrosis of the forearm bones (CPFBs) is rare, with only 106 reported cases, and is frequently associated with neurofibromatosis (NF). Approximately 5% of patients with NF develop pseudarthrosis, and 50% of patients with pseudarthrosis have NF. Achieving bone union is difficult in congenital pseudarthrosis. Many methods have been attempted, including casting, internal fixation with or without grafting, and electrical stimulation, but failure is frequent. Free vascularized fibular flaps (FVFs) have been used to bridge long bone defects since 1975 and in tibial pseudarthrosis since 1979. In CPFB, FVF is more successful than other methods in achieving union and is the current treatment of choice. Here, we presented three cases of forearm pseudarthrosis treated with FVF, reviewed the literature on CPFB, and discussed some technical aspects of FVF treatment. Three cases of congenital pseudoarthrosis were treated with free fibula flaps, diagnosed at ages of 7 years (ulna), 15 months (radius), and 9 years (radius and ulna). Two flaps were stabilized with intramedullary wires and latterly, one with compression plates. One persistent nonunion received revision nonvascularized bone grafting and plating. All patients achieved union by 11 months after index surgery. Reconstruction with vascularized fibula is the treatment of choice because it offers the highest published union rates and good functional results. Complete resection of the affected bone and stable fixation, latterly with compression plates are critical to success. Surgery is technically demanding, and complications are common. Secondary surgery may be required, but outcomes are favorable. LEVEL OF EVIDENCE: IV., (Crown Copyright © 2024. Published by Elsevier Ltd. All rights reserved.)

Congenital pseudarthrosis of the forearm poses a considerable challenge because of its rarity. The objective of this report is to introduce a novel surgical technique for its treatment. Here, we document a case of congenital pseudarthrosis of the radius in a 3-year-old boy diagnosed with type-1 neurofibromatosis. The surgical treatment involved the excision of approximately 9 cm of native radial periosteum and a bifocal radius osteotomy, which was supplemented with a vascularized tibial periosteal transplant to facilitate bone healing. Anastomosis between the anterior tibial vessels and radial vessels was performed. No immediate or late postoperative complications were observed. After 3 weeks, a robust callus formation was observed, and during a follow-up examination 3 years and 4 months later, a wide range of active forearm rotation was noted. This report suggests that vascularized periosteal flaps show promise as a viable treatment option for congenital pseudarthrosis of the forearm. They offer an alternative to vascularized fibular grafts or single-bone forearm constructs., (© 2024 Wiley Periodicals LLC.)

Background: Anterolateral tibial bowing associated with congenital tibial pseudarthrosis occurs often in patients with neurofibromatosis type 1 and results from the inability of the fractured bone to unite, leading to persistent nonunion, abnormal bone growth, and further bowing of the tibia. Current surgical and nonsurgical approaches demonstrate persistent nonunion or refracture, often resulting in amputation., Methods: This report describes the management of 3 patients with anterolateral tibial bowing and NF1 who underwent distal tibia-guided growth., Results: The patients had an average age of 1.6 years at initial operation, with a total of 3 to 4 surgeries over an average of 2.1 years. The latest follow-up on all patients is included, at a mean of 5.1 years after the initial operation. All 3 patients experienced substantial functional improvement and improved alignment of the mechanical axis of the tibia. One patient has experienced refracture., Conclusions: Our study indicates that guided growth can serve as an additional surgical option to improve ALTB and potentially reduce the risk of fracture and pseudarthrosis by restoring normal mechanical alignment., Level of Evidence: Level-IV, Case Series., Competing Interests: Outside of the study, A.N.L. reports consulting activities with Orthopediatrics, Medtronic, Zimmer, and Globus. The remaining authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Congenital pseudarthrosis of the tibia (CPT) is a severe pathology marked by spontaneous bone fractures that fail to heal, leading to fibrous nonunion. Half of patients with CPT are affected by the multisystemic genetic disorder neurofibromatosis type 1 (NF1) caused by mutations in the NF1 tumor suppressor gene, a negative regulator of RAS-mitogen-activated protein kinase (MAPK) signaling pathway. Here, we analyzed patients with CPT and Prss56-Nf1 knockout mice to elucidate the pathogenic mechanisms of CPT-related fibrous nonunion and explored a pharmacological approach to treat CPT. We identified NF1 -deficient Schwann cells and skeletal stem/progenitor cells (SSPCs) in pathological periosteum as affected cell types driving fibrosis. Whereas NF1 -deficient SSPCs adopted a fibrotic fate, NF1 -deficient Schwann cells produced critical paracrine factors including transforming growth factor-β and induced fibrotic differentiation of wild-type SSPCs. To counteract the elevated RAS-MAPK signaling in both NF1 -deficient Schwann cells and SSPCs, we used MAPK kinase (MEK) and Src homology 2 containing protein tyrosine phosphatase 2 (SHP2) inhibitors. Combined MEK-SHP2 inhibition in vivo prevented fibrous nonunion in the Prss56-Nf1 knockout mouse model, providing a promising therapeutic strategy for the treatment of fibrous nonunion in CPT.

Background: When using traditional extensible intramedullary rods to treat congenital pseudarthrosis of the tibia (CPT), there were cases of re-fracture and internal fixation fracture. Therefore, the authors propose a research hypothesis that a thicker distal extensible intramedullary rod can better protect the tibia and reduce the incidence of refracture PURPOSE: To investigate the clinical efficacy of new and traditional extensible intramedullary rods in the treatment of CPT in children METHODS: From January 2017 to December 2021, the clinical data of 49 children with CPT who were treated with traditional extensible intramedullary rod combined surgery (group A) and new extensible intramedullary rod combined surgery (group B) in our hospital were collected. Inclusive criteria: ① Crawford type IV CPT children; ② The operation was performed by the same team., Exclusion Criteria: patients with multiple tibial angulation. During follow-up, the initial healing, proximal tibial valgus, tibial length, ankle valgus, refracture and intramedullary rod displacement of CPT children in the two groups were evaluated RESULTS: It was a retrospective investigation. In group A, 26 cases met the inclusion criteria, 24 cases achieved primary healing, with an primary healing rate of 92%, including 1 case of nonunion due to osteomyelitis complications after surgery, and 1 case of delayed healing, with an average healing time of 4.7 ± 0.8 months. 17 cases (68%) had unequal tibia length, with an average difference of 1.6 ± 0.8 cm. Ankle valgus occurred in 10 cases (40%) with an average of 14.4°±4.8°; Proximal tibial valgus occurred in 6 cases (24%) with an average of 7 °± 1.8 °. 20 cases (80%) had tip of the rod migration.10 cases (40%) had re-fracture; The average follow-up time was 2.4 ± 0.4 years. In group B, 22 patients achieved primary healing, and the primary healing rate was 95%, including 1 case with delayed healing. The average healing time was 4.7 ± 1.7months. 14 cases (61%) had unequal tibia length, with an average difference of 1 ± 0.5 cm. Ankle valgus occurred in 4 cases (17%) with an average of 12.3 °±4.9°; The proximal tibia valgus occurred in 9 cases (39%), with an average of 7.7 °±2.5 °. 14 cases (61%) had new type of intramedullary rod displacement. 3 cases (13%) had re-fracture; The average follow-up time was 2.3 ± 0.6years CONCLUSION: Compared with the traditional extended intramedullary rod combined operation, the new type of extended intramedullary rod combined operation has a lower incidence of re-fracture after CPT, but it still needs to be verified by large sample and multi-center research., (© 2024. The Author(s).)

Background: Congenital pseudarthrosis of the tibia (CPT) is a rare disease. CPT is often unilateral and occurs between the middle and distal third of the tibia. Concurrent involvement of the fibula is present in more than half of cases. histologic studies indicate the presence of fibrous hamartoma tissue and a sick periosteum, which leads to recalcitrant bone fracture and, eventually, pseudoarthrosis. Although there are various surgical techniques, we intend to compare the 2 methods of external fixation versus internal plating., Methods: Demographic data were collected from 26 patients with frank pseudoarthrosis. After exclusion criteria, patients were compared in groups A (12 patients) and B (11 patients). Resection of hamartoma and sclerotic bone, intramedullary rodding and autologous bone, and periosteal grafting were performed for all patients. In group A, we used a ring external fixator for compression and rotational stability, but in group B, a locking plate was used for these purposes., Results: Plating takes less time to use during surgery. In group A, the primary bony union was obtained in 67% of patients, while in group B, 82% of patients had a primary union. Meanwhile, the average time till the final union in group A was 6 months, while in group B, this time was 3.5 months. Positive union mass was obtained in 58% of the patients in group A and 82% of group B. In addition, plating prevented ankle valgus deformity in group B., Conclusions: Permanent intramedullary rodding is a surgical requirement for correction of deformity and refracture prevention, but additional stability can be achieved with the use of a ring external fixator or internal plate. Cross union and positive union mass are 2 important factors in the treatment of pseudoarthrosis; these results are achieved to a greater extent and in a shorter period of time using the plate., Level of Evidence: level IV - case series., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: The purpose of this study was to explore the effect of fast-track surgery combined with a clinical nursing pathway on the recovery and complications of congenital pseudarthrosis of tibia., Methods: 82 children with congenital pseudarthrosis of tibia admitted from January 2019 to December 2020 were selected as the study subjects. The control group received routine clinical nursing pathway while the intervention group received a fast-track surgery combined with a clinical nursing pathway. The fasting and water deprivation time were arranged according to the pre operation time, and the accelerated rehabilitation nursing models such as progressive diet management, multi-functional analgesia, and early sequential functional exercise were given after the operation. After collecting data on perioperative diet, postoperative recovery, postoperative complications, and family satisfaction from both groups of patients in a large hospital in China, a comparative analysis was conducted., Results: The retention time of negative pressure drainage tube, urinary catheter and hospital stay in the intervention group were shorter than those in the control group (P < 0.05); The incidence of complications in the intervention group (5%) was significantly lower than that in the control group (21.42%) (P = 0.029). The family satisfaction of the intervention group (95.00%) was higher than that of the control group (80.95%)., Conclusion: Strengthening the concept of fast-track surgery nursing in the combined operation of congenital pseudarthrosis of tibia can shorten the hospitalization time of children, reduce the occurrence of postoperative complications and improve their family satisfaction., Competing Interests: Declaration of competing interest All authors declare that they have no potential conflicts of interest and agreed with the manuscript., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Background: Congenital pseudoarthrosis of the tibia (CPT) is an uncommon disease associated with failure to achieve bone union and recurrent fractures. There is evidence showing that CPT is associated with decreased osteogenesis. Based on the capacity of mesenchymal stromal cells (MSCs) to induce osteogenesis, we develop an osteogenic organoid (OstO) constituted by these cells, and other components of the bone niche, for inducing bone formation in a child diagnosed with CPT., Aim: To evaluate the capacity of an OstO to induce bone formation in a patient with CPT., Methods: The OstO was fabricated with allogeneic bone marrow MSCs from a healthy donor, collagen microbeads (CM) and PRP clot. The CM and PRP function as extracellular matrix and scaffolds for MSC. The OstO was placed at the site of non-union. Internal and external fixation was placed in the tibia. Radiological evaluation was performed after MSCs transplantation., Results: After 4 months of MSCs transplantation, radiographic imaging showed evidence of osteogenesis at the site of CPT lesion. The tibia showed bone consolidation and complete healing of the non-union CPT lesion after 6 months. Functional improvement was observed after 1 year of MSC transplantation., Conclusions: The OstO is a bone-like niche which promote osteogenesis in patients with failure in bone formation, such as CPT. To our knowledge, these results provide the first evidence showing CPT healing induced by an OstO constituted by allogeneic MSCs. Future studies incorporating a larger number of patients may confirm these results., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

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. The initial healing of tibial pseudarthrosis, proximal tibial valgus deformity, tibial length, ankle valgus, ankle function, and intramedullary rod displacement were evaluated during follow-up. All 15 cases were followed up for an average of 18.2 months, 14 cases achieved initial healing, with an average healing time of 4.3 months. Ten cases had unequal lengths of the tibia, with an average of 0.9 cm. Proximal tibial valgus occurred in seven cases and ankle valgus occurred in one child. The average range of motion of the ankle joint was 23° and the average plantar flexion was 42°. The average extension of the new telescopic rod was 1.6 cm. The displacement of the telescopic rod occurred in seven cases, there was no epiphyseal plate tethering and re-fracture. The new children's telescopic rod has a reasonable design and can extend with the growth of tibia. There are no complications of epiphyseal plate tethering and re-fracture. It provides a new choice of intramedullary fixation for the treatment of CPT., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

Objective: To explore the long-term effect of combined surgery for the treatment of congenital tibial pseudarthrosis in children. Methods: The clinical data of 44 children with congenital tibial pseudarthrosis who underwent combined surgery (tibial pseudarthrosis tissue resection, intramedullary rod fixation, Ilizarov external fixator fixation, wrapped autologous iliac bone graft) from August 2007 to October 2011 at the Department of Pediatric Orthopedics, Hunan Children's Hospital were collected retrospectively. There were 33 males and 11 females. The age at the time of surgery was (3.7±2.2)years (range:0.6 to 12.4 years), including 25 cases under 3 years old and 19 cases above 3 years old.Among them, 37 cases were complicated with neurofibromatosis type 1.The operation status, postoperative complications and follow-up results were recorded. Results: The follow-up time after surgery was (10.9±0.7)years (range:10 to 11 years).Thirty-nine out of 44 patients (88.6%) achieved initial healing of tibial pseudarthrosis, with an average healing time of (4.3±1.1)months (range:3 to 10months).In the last follow-up, 36 cases (81.8%) had unequal tibial length, 20 cases (45.4%) had refractures, 18 cases (40.9%) had ankle valgus, 9 cases (20.4%) had proximal tibial valgus, and 11 cases (25.0%) had high arched feet.Nine cases (20.4%) developed distal tibial epiphyseal plate bridging.17 cases (38.6%) had abnormal tibial mechanical axis.Seven cases (15.9%) developed needle infection, and one case (2.3%) developed tibial osteomyelitis. 21 patients (47.7%) had excessive growth of the affected femur.Five patients (11.3%) had ankle stiffness, and 34 patients (77.2%) had intramedullary rod displacement that was not in the center of the tibial medullary cavity.Among them, 8 cases (18.1%) protruded the tibial bone cortex and underwent intramedullary rod removal.18 children have reached skeletal maturity, while 26 children have not been followed up until skeletal maturity. Conclusion: Combined surgery for the treatment of congenital pseudarthrosis of the tibia in children has a high initial healing rate, but complications such as unequal tibia length, refracture, and ankle valgus occur during long-term follow-up, requiring multiple surgical treatments.

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 10.2±3.2 years were reviewed. All cases were Crawford type IV affected by neurofibromatosis 1. Nine patients had an average of 4.3 previous operations. Preoperative LLD averaged 7.9±2.5 cm., Results: Follow-up averaged 10±5.4 years. Seven cases (63.6%) reached skeletal maturity before final follow-up. Primary union was achieved in all cases after an average of 7.2±1.3 months. Full weightbearing was possible after an average of 10.6±2.2 months. Recurrent stress fractures occurred in 9 cases (81.8%) and healed with casting in 6 cases and required internal fixation in 3 cases. Eight cases (72.8%) developed tibial shaft deformities, mainly procurvatum that required corrective osteotomy in 2 cases. Final LLD averaged 2.7±1.3 cm. Complete tibialization of the graft was achieved after an average of 17.0 ± 3.6 months. Valgus deformity of the ipsilateral ankle averaged 12.4 degrees±7.5., Conclusion: The presented technique avoids osteotomy of the diseased bone and allows simultaneous treatment of the pseudarthrosis and correction of shortening. Compared with conventional bone transport, it requires shorter time of frame application and therefore better patient tolerability because there is no waiting for consolidation of the regenerate. The dis-impaction of the doweled fibula occurs proximally, allowing the less active site located at the distal aspect of the pseudarthrosis to heal without displacement. A shortcoming of the presented technique is the more propensity for axial deviation and refractures that seldom require surgery., Level of Evidence: Level-IV., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)

The aim of this study was 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. We identified 87 407 livebirths of which 41 800 had radiological studies done, 14 885 showing one or both clavicles. We found five cases of CPC, two from the electronic database and three from our imaging review, giving an incidence of 1 of 17 481 livebirths. We identified 138 publications reporting paediatric and adult CPC cases and 12 review articles, including 429 patients (187 female; 159 male; 83 unknown) with 456 CPCs and a minimum of 24 additional patients from case reports for which we could not retrieve details. Two publications reported one case of left-sided CPC with dextrocardia, either not showing left/right marking or only showing the CPC with the aortic knob on the same side. We report the first CPC incidence of 0.0057%, provide the by far most inclusive CPC epidemiology based on 429 patients and could not find reliable proof that there has ever been a patient with left-sided CPC which was associated with dextrocardia., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Congenital pseudoarthrosis of the tibia (CPT) is a rare and very difficult pediatric orthopedic condition to manage. It occurs spontaneously or from a trivial trauma. It results from a dysplastic periosteum that is more osteoclastic and less osteoblastic in nature. Successful treatment targets excision of the dysplastic periosteum and replacement with viable one and bone graft ± bone morphogenic proteins to aid union. Stabilization of the union site with intramedullary implants is advised to prevent refracture., Aims: To highlight the outcome of treatment of CPT with the Ilizarov procedure, bone graft, and use of bisphosphonate (sodium alendronate)., Patients and Methods: This is a retrospective study of five patients treated for CPT using the Ilizarov procedure, bone graft, and use of bisphosphonate in the Delta State University Teaching Hospital, Oghara in Delta State, Nigeria. Inclusion criteria were patients that had a fracture of the tibia ± fibula spontaneously or from minor trauma. Exclusion criteria were patients that had pathological fractures or fractures from significant trauma. The outcome was graded into good, fair and poor., Results: Five patients were seen in this study. The male/female ratio was 2:3. The age was 6-18 years (mean = 11.5 years). The limb length discrepancy was 6-12 cm (mean = 7.2 cm) pre-operation and zero after completion of distraction. There was the loss of some regeneration in two patients at the end of consolidation. Two patients had hypertrophic CPT, while three patients had atrophic. Union was good in four and fair in one. Complications seen were ankle stiffness bending of the regenerate and loss of length of regenerate., Conclusion: CPT is a rare condition worldwide that is associated with non-union and complicated by post-operation refracture or non-union has been successfully treated with a procedure that entails use of Ilizarov technique, bone graft bisphosphonate and support with intramedullary nails., Competing Interests: None

Rationale: The exact etiology and pathogenesis of congenital pseudarthrosis of tibia (CPT) are not clear. Quantitative proteomics analysis plays a vital role in disease pathology research. Tandem mass tag (TMT)-based proteomics techniques were employed to identify and analyze the differentially expressed proteins (DEP) in the tibia periosteum tissues of CPT patients., 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 ≥1.5 or ≤0.66 and P-value <0.05 were used as the thresholds to screen DEPs. Subsequently, bioinformatics resources such as online tools DAVID and String were used to generate gene ontology (GO) annotation, KEGG pathways enrichment, and protein-protein interaction (PPI) network for these DEPs., Results: The results show that a total of 347 proteins were differentially expressed in NF1-CPT groups, 212 of which were upregulated and 135 were downregulated. There were more DEPs in non-NF1-CPT groups; we identified 467 DEPs, including 281 upregulated and 186 downregulated. Among them, NF1-CPT groups and non-NF1-CPT groups shared 231 DEPs, and the remaining 230 DEPs showed the same expression trend in the two disease groups, with 117 upregulated and 113 downregulated. In particular, 116 proteins were altered only in NF1-CPT groups (94 were upregulated and 22 were downregulated), whereas 236 proteins were altered only in non-NF1-CPT groups (164 were upregulated and 72 were downregulated). Finally, compared with non-NF1-CPT groups, 47 proteins changed 1.5-fold and P-value < 0.05 in NF1-CPT groups., Conclusions: To sum up, we found that common DEPS in periosteum of NF1-CPT and non-NF1-CPT groups are mainly involved in cell matrix assembly, cell adhesion, AKT-PI3K signal pathway activation, and vascular agglutination, which indicate that these are the pathological characteristics of CPT. The osteogenic ability is weak, the osteoclastic ability is strong, the vascular lumen is narrow, the invasive growth and the proliferation of fibroblasts are enhanced in CPT patients., (© 2022 John Wiley & Sons Ltd.)

Purpose: There is no consensus on the type of surgical treatment of congenital pseudarthrosis of the clavicle due to its rarity. The purpose of this study is to provide evidence in favor of a surgical technique and to explore factors correlated with bone consolidation., Methods: Systematic review of the literature and an analysis of the data for each subject, including all available subjects from the published series and clinical cases since 1990. Fisher's exact tests or T-tests were used to evaluate the effect of independent variables (age at surgery and type of treatment) on bone healing., Results: The literature search provides 305 articles; 30 were selected, reporting 191 patients and 194 clavicles. One hundred and fifty-one clavicles were operated on at a mean age of nine years and four months (from 8 months to 21 years). Thirteen clavicles (8, 6%) had not consolidated at the last follow-up. Concerning the type of fixation, the rate of healing was similar for plates and pins (p = 0.27). The rate of consolidation was higher with autograft than with allograft, xenograft, or no graft (p = 0.00001), and was 100% for vascularized graft. The mean age at surgery was higher for patients who healed at the last follow-up (118 vs. 61 months, p = 0.001)., Conclusion: In the event of surgical indication for congenital pseudarthrosis of the clavicle, it is recommended to perform autograft and stable fixation (level 4) after seven years old (level 4)., (© 2022. The Author(s) under exclusive licence to SICOT aisbl.)

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. Intramedullary rods were used in 9 cases and iliac bone graft was used in 12 cases. An orthosis was applied till the end of follow-up in all cases. The American Orthopaedic Foot and Ankle Society (AOFAS) scale was used for the evaluation of the functional outcomes., Results: This study included 16 patients, 11 males and 5 females, with an average age of 5.4 ± 2.8 years. Seven cases had multiple previous surgeries. Six patients had neurofibromatosis. The mean follow-up period was 5.8 ± 3.4 years. The average AOFAS score improved significantly from 47.5 ± 7.6 preoperatively to 78.9 ± 8.9 at the latest follow-up. Union was achieved in 15 cases, and persistent non-union occurred in one case. The clinical results were excellent in one patient, good in seven cases, fair in 6, and poor in 2 cases. The radiological results were excellent in one patient, good in seven cases, fair in seven, and poor in one case., Conclusions: The Ilizarov technique combined with intramedullary rod and primary or secondary bone graft provides a high union rate of CPT and can achieve simultaneous effective management of problems related to pseudarthrosis, including non-union, deformity, limb shortening, and adjacent joint contracture and subluxation. Level of evidence Level IV., (© 2022. The Author(s).)

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. The deformity of ankle valgus was gradually corrected by implanting a new "U"-shaped staple on the medial side of the distal tibia. Clinical indexes such as the operation time, intraoperative bleeding and hospital stay were observed. Tibiotalar angle was selected as the evaluation index of ankle valgus. American Orthopedic Foot & Ankle Society (AOFAS) scale was used for clinical evaluation of ankle function. The tibiotalar angle, deformity correction rate and complications were evaluated by preoperative, postoperative and last follow-up imaging data. Student's t-test was used for statistical analysis., Results: Thirty-three patients, including 12 males and 21 females were included. All the patients were followed up for at least 14 months, with an average of 35 months. The average operation time was 23 (15-40) min, the average amount of intraoperative bleeding was 7.5 (4-10) mL, and the average hospital stay was 4.2 (3-6) days. The intraoperative tibiotalar angles of all patients were 74.2° ± 4.6°, the tibiotalar angle were 86.8° ± 4.9° when internal fixation was removed, and the tibiotalar angles at the last follow-up were 84.3° ± 5.9°. The average orthopedic rate was 0.68° per month. No patients suffered from serious complications such as screw prolapse, osteomyelitis, wound infection, etc. Postoperative wound pain complications occurred in two patients, which were relieved after conservative treatment. The AOFAS score improved from 46.2 ± 9.4 before the operation to 74.6 ± 5.7 at the last follow-up (P < 0.01). The ankle movement was good without joint stiffness. There was no epiphyseal plate injury after the removal of internal fixation., Conclusion: The new "U"-shaped staple is characterized by simple implantation, low notch, lower risk of fixation failure and close fitting with cortical bone. It is a safe and effective internal fixation system for the treatment of ankle valgus in children., (© 2022 The Authors. Orthopaedic Surgery published by Tianjin Hospital and John Wiley & Sons Australia, Ltd.)

Up to 84% of patients with congenital pseudarthrosis of the tibia (CPT) present with neurofibromatosis type 1 (NF1) (NF1-CPT). However, the etiology of CPT not fulfilling the NIH diagnostic criteria for NF1 (non-NF1-CPT) is not well understood. Here, we collected the periosteum tissue from the pseudarthrosis (PA) site of 43 non-NF1-CPT patients and six patients with NF1-CPT, together with the blood or oral specimen of trios (probands and unaffected parents). Whole-exome plus copy number variation sequencing, multiplex ligation-dependent probe amplification (MLPA), ultra-high amplicon sequencing, and Sanger sequencing were employed to identify pathogenic variants. The result showed that nine tissues of 43 non-NF1-CPT patients (21%) had somatic mono-allelic NF1 inactivation, and five of six NF1-CPT patients (83.3%) had bi-allelic NF1 inactivation in tissues. However, previous literature involving genetic testing did not reveal somatic mosaicism in non-NF1-CPT patients so far. In NF1-CPT patients, when the results from earlier reports and the present study were combined, 66.7% of them showed somatic NF1 inactivation in PA tissues other than germline inactivation. Furthermore, no diagnostic variants from other known genes (GNAS, AKT1, PDGFRB, and NOTCH3) related to skeletal dysplasia were identified in the nine NF1 positive non-NF1-CPT patients and six NF1-CPT patients. In conclusion, we detected evident somatic mono-allelic NF1 inactivation in the non-NF1-CPT. Thus, for pediatric patients without NF1 diagnosis, somatic mutations in NF1 are important., (© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

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 53.3% (48/90). Among these behavioral problems, an abnormal rate is higher in the four dimensions: thinking, violation of discipline, social interaction, and aggression. The anxiety and depression scores of caregivers are statistically higher in the abnormal group than in the normal group. The results of the multivariate analysis show that the anxiety degree of the parents had a significant impact on the behavior of the children., Conclusions: Children with congenital pseudarthrosis of the tibia are facing the issues of high rates of behavioral problems. Parents of children with congenital pseudarthrosis of the tibia had higher levels of anxiety and depression than parents of normal children. The anxiety and depressive state of mind of parents or caregivers had a significant impact on the behavior of children with congenital pseudarthrosis of the tibia.

Background: The treatment of congenital pseudarthrosis of the tibia (CPT) remains a challenge because of the difficulties of achieving and maintaining bone union, as well as complications of joint deformity and limb-length discrepancy. The purpose of this study was to evaluate the efficacy of cross-union of the tibia and fibula in achieving union and preventing refracture for patients with refractory CPT as a complementary approach to improve upon conventional surgical treatments., Methods: A retrospective study including patients with refractory CPT who attended our department between June 2014 and August 2020. Eighteen CPT patients, who had sustained refracture that required cast immobilization or secondary surgery, and were managed by pseudarthrosis resection, cross-union of the tibia and fibula, bone morphogenetic protein-2 and autogenous iliac bone grafting, were included. Clinical outcomes of the bone union rate and the frequency of refracture after performing cross-union of the tibia and fibula were assessed during the follow-up period., Results: The mean follow-up period was 4.3 years (range: 1.5 to 6.25 y). The mean age of the patients at surgery was 5.4 years (range: 2.6 to 10 y), and all 18 (100%) of the 18 patients had final healing at the site of pseudarthrosis. The average time spent to achieve radiologic bone union of the pseudarthrosis after operation was 2.96 months (range: 2.2 to 4.1 mo). Two (11.1%) patients had an average 2.5 cm limb-length discrepancy, none (0%) sustained refracture which needed cast immobilization or secondary surgery. Patients were all pain-free and move actively., Conclusions: Cross-union of the tibia and fibula is a promising complementary procedure for treating refractory CPT patients., Level of Evidence: Level IV-case series., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc.)

Background: Shortening and deformity of the tibia commonly occur during the treatment of congenital pseudarthrosis of the tibia (CPT). The role of osteotomies in lengthening and deformity correction remains controversial in CPT. This study evaluates the approach to and outcome after osteotomy performed in CPT., Methods: We performed an IRB approved retrospective review of consecutive patients with CPT treated at our institution from 2010 through 2019. Patients who underwent osteotomies were included in this study., Results: Nine patients (10 osteotomies-5 proximal metaphyseal and 5 diaphyseal) with a median age at osteotomy of 8.9 years (range: 4 to 21 y) were included. Six patients had neurofibromatosis-1, 1 had cleidocranial dysplasia, and 2 patients had idiopathic CPT. Four osteotomies were performed for deformity correction, 3 osteotomies to allow intramedullary instrumentation, and 3 osteotomies for lengthening. Five osteotomies were preceded by zolendronate treatment before surgery. Nine were fixed with a rod supplemented with external fixation (7) or locking plates (2). One osteotomy was stabilized with locked intramedullary nailing alone. Four osteotomies were supplemented with autologous bone graft, and bone morphogenic protein-2 was utilized in 3 osteotomies. Median time to healing was 222.5 days (range: 124 to 323 d). One osteotomy (locked intramedullary nailing) required grafting at 5.5 months and then healed uneventfully. Median healing index for patients undergoing lengthening was 57.9 days/cm (range: 35 to 81 d/cm). All 3 osteotomies performed for lengthening required a second osteotomy for preconsolidation at a mean of 34 days. Other complications included compartment syndrome requiring fasciotomy (n=2), tibial osteomyelitis (n=1), and fracture distal to cross-union (n=1)., Conclusions: Contrary to much of the established practice, osteotomies may be safely performed in CPT for various indications. All osteotomies healed with only 1 osteotomy requiring secondary bone grafting. Although time to healing of the osteotomy was generally prolonged, this study suggests, somewhat surprisingly, that preconsolidation can occur frequently in lengthening procedures., Level of Evidence: Level IV-case series., Competing Interests: J.E.H. is a clinical advisor for Bonus BioGroup and a consultant for NuVasive Specialized Orthopedics, Orthofix, OrthoPediatrics, OrthoSpin, Smith & Nephew, and WishBone Medical. P.K.M. is a consultant for DePuy Synthes Companies, Novadip, Orthofix, and Smith & Nephew. The remaining authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Congenital pseudarthrosis of the tibia (CPT) is a rare disease occurring in children. The aim of this study is to identify the factors affecting bone union and re-fracture after surgery for CPT and to provide reliable evidence for clinics., Methods: We collected the detailed information of 255 cases with Crawford IV CPT treated by combined surgery in our hospital from 2013 to 2020. Basic characteristics were recorded. Univariate variance and logistic regression analysis were used to compare the correlations between factors and outcomes., Results: 92.5% of patients achieved primary union, 7.5% of patients had non-union and 13.3% of patients had re-fracture. Logistic regression analysis showed that age at index surgery (Coef. = 0.171, 95%CI 0.015-0.327, P = 0.032), and CPT location (Coef. = - 1.337, 95%CI - 2.218-0.456, P = 0.003) had statistical differences, while no factors had significant correlation with re-fracture. Furthermore, ROC curve showed that the optimal age threshold for first surgery was 2.37 years old., Conclusions: For patients with Crawford IV CPT treated by combined surgery, the younger the age at index surgery and the closer the CPT location to the distal end, the easier to achieve bone union., (© 2022. The Author(s).)

Introduction: Congenital pseudarthrosis of the tibia (CPT) is one of the most challenging orthopedic disorders. The use of a vascularized tibial periosteal grafts has been recently reported as a powerful tool to obtain bone union. We report its use in CPT., Patients and Methods: Retrospective short-term study of 29 children (18 male/11 female, 15 right-sided/14 left-sided) of mean age 45 months (range 11-144 months), operated upon after October 2014. Nonunion site was debrided, and the periosteum of the involved limb was excised. A vascularized tibial periosteal graft (mean length 10.7 cm (range 9-15 cm) with a monitoring skin island (mean length 4.1 cm (range 3-5 cm) and based on the anterior tibial vessels, was obtained from the contralateral tibia. Anterior tibial vessels were always the recipient vessels. Most cases were stabilized with an LCP plate. The rate of and time to bone union were analyzed. Charts only were evaluated through the first 3 months after bone union was achieved., Results: The flap survived and bone union was obtained in all cases, through a periosteal callus, in a mean time of 5.1 weeks (range 3-6 weeks). Mean follow-up was 8.3 months (range 7-19 months). No union failures occurred 3 months after resuming unprotected weight bearing., Conclusions: Our novel technique produced a consistent, rapid capacity for CPT union, superior to previously-reported techniques. However, it cannot be recommended as a standard method of treatment until consistent, long-term, refracture-free follow-up is documented., (© 2022 Wiley Periodicals LLC.)

Background: Congenital pseudarthrosis of the tibia (CPT) is a complex and serious disease in orthopaedics which often requires multiple operations for treatment. Postoperative ankle valgus deformity is easily seen after the operation of CPT. The aim of this study is to retrospectively evaluate the effectiveness of three different implants for treating postoperative ankle valgus after CPT., Methods: A total of 41 patients with postoperative ankle valgus after CPT from December 2010 to July 2019 were selected. Of these 41 patients, 23 patients were treated with "U"-shaped staple, 10 patients were treated with hollow screw and 8 patients were treated with cortical bone screw. The evaluation index was tibiotalar angle. The general data, preoperative, postoperative, and final follow-up imaging data were recorded, and the deformity correction rate and complications were compared., Results: All the patients were performed with postoperative follow-up visit for at least 12 months (31 mo on average). In the "U"-shaped staple group, the preoperative tibiotalar angle was 74.8±4.8 degrees, the tibiotalar angle was 85.8±4.5 degrees when the internal fixation was removed; in the hollow screw group, the average preoperative tibiotalar angle was 72.2±6.1 degrees, the average tibiotalar angle was 88.4±5.1 degrees when the internal fixation was removed; in the cortical bone screw group, the average preoperative tibiotalar angle was 75.1±4.2 degrees, the average tibiotalar angle was 88.4±5.1 degrees when the internal fixation was removed. The correction rate of the "U"-shaped staple group was 0.71 degrees/month, with that of in the hollow screw group and cortical bone screw group being 0.64 degrees/month and 0.61 degrees/month, respectively. There was no significant difference in the correction rate between the 3 groups. One case of internal fixation complication was reported in the hollow screw group; 2 cases of missing correction effect were reported, 1 in cortical bone screw group and 1 in hollow screw group; and 2 cases showing symptom of wound pain were reported in the "U"-shaped staple group., Conclusion: Ankle valgus is a common postoperative complication of congenital tibial pseudarthrosis. Temporary hemiepiphysiodesis with "U"-shaped staple or screws is an effective treatment for postoperative ankle valgus deformity of CPT in children., Level of Evidence: Level IV-retrospective study., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc.)

Background: Reconstruction of large tibial defects is often a major challenge in limb salvage. This study aimed to evaluate initial follow-up results of ipsilateral fibula transfer for the treatment of large tibial defects in children., Methods: A retrospective study was performed between September 2014 and April 2021. Ten children were identified as having large tibial defects. The children underwent ipsilateral fibula transfer. We then evaluated initial healing, tibial length discrepancy, ankle varus/valgus, fibular position, refracture, infection, and function., Results: Five boys and five girls, with an average age of 7.2 years, were evaluated. The transferred fibula was united in the patients. The mean follow-up period after fibular transposition was 43 months. The patients achieved primary bone union; the mean time to union was 8.4 months (range, 4-18 months). Complications included refracture (30%), infection (40%), tibia malunion (30%), ankle varus (30%), sensory loss of toes (10%), and ankle valgus (10%). No other major complications were observed. All 10 patients were able to perform activities of daily living and return to their normal activities., Conclusion: Ipsilateral fibula transfer is a salvage surgery for the treatment of large tibial defects in children with congenital pseudoarthrosis of the tibia, traumatic nonunion of the tibia, and/or tibial defect after chronic osteomyelitis. However, long-term results still need to be followed up., (© 2022. The Author(s).)

Objective: The aim: Determine the changes in bone density that occur in the cortical layer of the tibia in patients with CPT after surgical treatment due to radiography data., Patients and Methods: Materials and methods: The study was performed on X-rays of the tibia of three patients with CPT, aged 5 to 7 years. X-rays were taken before surgery and 1 year after surgery. The optical density of the cortical layer of both tibia bones was determined, for which they were conditionally divided into 7 zones., Results: Results: In all patients with CPT before treatment, there is significant decrease in the optical density of cortical bone tissue of the damaged tibia compared with contralateral. One year after surgery, there was an increase in the optical density of the cortical layer of both tibia of the studied patients. The increase in the density of the nonoperated tibia can be attributed to the active growth of patients. On the operated limb, the increase in the density of the cortical layer became statistically significant in all studied areas, which can be attributed not only to the growth of patients, but also to the possibility of active loading of the operated limb., Conclusion: Conclusions: In all patients with CPT before treatment, a statistically significant decrease in the density of cortical bone tissue of the damaged tibia was observed. As a result of the treatment there is an approximation of the bone density of the operated limb to the indicators of intact contralateral bone.

Background: Congenital pseudarthrosis of the clavicle (CPC) is a rare congenital entity with unresolved aetiology and pathogenesis. Nearly 250 cases have been reported to date. CPC is characterized by a definite defect in the mid-clavicle at birth and is usually diagnosed when the deformity becomes evident in late childhood or adolescence. Surgical management is controversial, especially in asymptomatic children, with various techniques reported in the literature., Case Report: We report a case of a 6-year-old boy who was diagnosed with CPC during a medical examination for primary school enrollment. Operative treatment included debridement of pseudoarthrosis, internal fixation with third tube plate, and barrel-shaped mono-cortical iliac crest autograft., Results: A complete bone union was obtained 9 months after the operation, and satisfactory function and cosmetic appearance were observed 4 years and 3 months postoperatively., Conclusion: In our opinion, reconstruction with barrel-shaped mono-cortical iliac crest autograft was an effective and reproducible surgical technique to treat CPC.

Congenital pseudoarthrosis of the forearm is an extremely rare condition. It is most commonly associated with neurofibromatosis type I (NF1). Patients with NF1-associated pseudoarthrosis have complex medical management and often require surgical intervention due to higher failure rates of union. In this case report, we present a unique case of a newborn baby with congenital pseudoarthrosis of both the radius and ulna that was manifested at birth and shortly thereafter, was diagnosed with NF type 1., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Background: The current surgical treatment of choice is the combination surgical technique, involving tibial intramedullary fixation to maintain the mechanical axis and mechanical stability of tibial pseudarthrosis. In traditional combined surgery, the Williams rod is often used. Long-term intramedullary fixation of the foot and ankle will affect the ankle joint function of children. The intramedullary rod is relatively shorter due to the growth of the distal tibia. In addition, there are some complications such as epiphyseal bone bridge and high-arched foot. The use of a telescopic intramedullary rod may avoid these complications., Purposes: To investigate the initial effect of the "telescopic rod" in a combined surgical technique for the treatment of congenital pseudarthrosis of the tibia in children., Methods: A retrospective study including 15 patients with Crawford type IV CPT who were treated using a combined surgical technique and the telescopic rod from January 2017 to May 2018. The average age at the time of surgery was 43.3 months (16-126 months). Of the 15 patients, 7 had proximal tibia dysplasia and 12 exhibited neurofibromatosis type 1. The combined surgical technique using the telescopic rod included the excision of pseudarthrosis, intramedullary rod insertion, installation of Ilizarov's fixator, tibia-fibular cross union, and wrapping autogenic iliac bone graft. The incidence of refracture, ankle valgus, tibial valgus, and limb length discrepancy (LLD) in patients were investigated., Results: All patients achieved primary union with an average follow-up time of 37.3 months (26-42 months). The mean primary union time was 4.5 months (4.0-5.6 months). Nine cases showed LLD (60%), with an average limb length of 1.1 cm (0.5-2.0 cm). Ankle valgus, proximal tibial valgus, telescopic rod displacement, and epiphyseal plate tethering occurred in 1 case (6.6%) (18°), 3 cases (20%) (10°, 5°, and 6°, respectively), 6 cases (40%), and 2 cases (13%), respectively. There were no refractures during the follow-up periods., Conclusion: Although there are complications such as intramedullary rod displacement while using the telescopic rod in a combined surgery, the primary healing rate of congenital pseudarthrosis of the tibia in children is high., (© 2021. The Author(s).)

Background: Congenital pseudoarthrosis of the clavicle (CPC) is an uncommon entity. Owing to its scarce presentation, treatment of this disorder has not been well established. This study aimed (1) to compare surgical treatment methods that included excision of pseudoarthrosis and iliac crest bone graft and fixate with either the elastic stable intramedullary nail (ESIN) or K-wires or plate and screws, and (2) to assess the clinical outcomes of two different surgical methods., Methods: A multi-central retrospective study was performed between 2013 and 2017 in four tertiary teaching hospitals. Fifteen clavicles of 11 children were identified as CPC. All patients underwent pseudarthrosis resection and iliac crest bone autograft. They were divided into two groups as per the surgical treatment they underwent-plate stabilization as group A and elastic stable intramedullary nailing (ESIN) or K-wires as group B. Nine clavicles in 6 patients in group A and 6 clavicles in 5 patients in group B, were included. The Quick Disabilities of the Arm and Shoulder (QuickDASH) score was used to assess patients' satisfaction and function following treatment at each follow-up., Results: There were eight boys and three girls, with an average age of 4.7 years. All patients, except one with intellectual impairments, had radiological healing. Implant removal time was significantly shorter in group B compared to group A. No statistically significant differences existed in terms of age at surgery, time of radiological healing, complication, and clinical outcome between different groups., Conclusion: Surgical resection of pseudoarthrosis with an iliac crest bone graft was an effective means of surgical treatment in CPC. However, ESIN or K-wires can achieve shorter union time compared to the plate. Hence, surgical treatment is recommended for congenital pseudarthrosis of clavicular in pediatric patients., Level of Evidence: Retrospective comparative study; Level III.

Background: Vascularized fibular grafting (VFG) is currently accepted as one of the best treatments for congenital tibial pseudoarthrosis (CPT). However, with longer follow-up, functional results deteriorate, and some problems become evident., Methods: Thirty-nine patients with CPT were treated with VFG. Their age at surgery averaged 5.2 years. Twenty-one cases aged 3 years or less at the time of surgery. All cases were Crawford type IV affected by neurofibromatosis-1. Fourteen patients had 1 to 7 previous surgeries with an average of 4.2 procedures. The length of the fibula used averaged 9.9 cm, and the fibula was fixed by intramedullary wires in 26 cases, and transfixion screws in 11 cases., Results: Follow-up averaged 8.1 years. Seventeen cases (43.6%) reached skeletal maturity before the final follow-up. Primary bone union was achieved in 37 cases (96%) after an average of 3.2 months. Stress fracture occurred in 21 cases (51.3%) and was recurrent in 11 cases. Twenty-one cases (53.8%) developed tibial shaft deformities with an average valgus angle of 13.8 degrees and procurvatum angle of 18.8 degrees. The overall final limb length discrepancy (LLD) averaged 2.2 cm. Ipsilateral ankle valgus deformity occurred in 21 cases (53.8%) and averaged 10 degrees. A total of 17 cases required an average of 2 secondary procedures. The tibial deformity did not appear to remodel with age, but the LLD and the angle of ipsilateral ankle valgus deformity continued to significantly increase until skeletal maturity., Conclusion: This study reports the largest single center experience of CPT cases treated with VFG. Free VFG is an excellent treatment option for CPT. Best results are achieved when the procedure is performed at or before the age of 3 years, in the absence of previous surgeries, and with the use of intramedullary fixation. The resulting LLD and the degree of ipsilateral ankle valgus increase with age until skeletal maturity, however, tibial deformity does not remodel and should be corrected at any age if it is excessive. Donor side mild ankle valgus may occur despite sound tibiofibular synostosis., Level of Evidence: Level IV., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Objectives: This study reports the surgical outcomes in a patient cohort with congenital pseudarthrosis of the clavicle (CPC)., Patients and Methods: A total of nine pediatric patients (5 males, 4 females; mean age: 4.43 years; range, 2 to 12 years) who were diagnosed with CPC and treated surgically with a minimum one-year follow-up between January 1996 and December 2018 were retrospectively analyzed. The patients were divided into two groups according to the fixation method as the Kirschner wire (K-wire; Group A, n=2) or stabilization with a plate (Group B, n=7). The physical function and symptoms were evaluated using the Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) scale., Results: The mean age at the time of diagnosis was 2.95 (range, 0 to 12) years. Six cases were atrophic pseudarthrosis and three cases were hypertrophic. Radiographic consolidation occurred in all cases with a mean duration of 103.8±39.1 days, indicating no significant difference between the groups (p>0.05). Complications registered were a K-wire breakage in a patient in Group A and an internal fixation plate loosening in a patient in Group B. The mean postoperative follow-up was 2.98±1.82 years. The QuickDASH score was 0 points in all patients., Conclusion: The early surgical indication based on refreshment of the pseudarthrosis focus, with bone autograft interposition when a failure exists to restore adequate clavicular length, and fixation are reliable alternatives with favorable clinical and radiological results in the mid- and long-term with fewer complications.

Congenital tibial pseudarthrosis is a rare condition seen in neurofibromatosis type 1 (NF1), and treatment is complex. A randomized, placebo-controlled trial of bone morphogenetic protein (rhBMP-2; INFUSE bone graft) at time of tibial surgery was developed by the Neurofibromatosis Clinical Trials Consortium. Patients were randomized to receive rhBMP-2 that would, or would not, be added to the standard surgical procedure consisting of resection of pseudarthrosis tissue, insertion of a rigid intramedullary rod, and placement of autogenous iliac crest bone graft. Despite involvement of 16 centers with wide experience with NF1 orthopaedic management, only 5 patients (of 54 required) were able to be enrolled in the study during a 3-year time period. Because of the inability to recruit sufficient patients, this study was closed in June 2019, with plans to terminate. The obstacles that were encountered during the study are summarized. The authors question whether a randomized, placebo-controlled trial of a rare pediatric orthopaedic condition is possible to accomplish. Recommendations are provided to guide future studies of orthopaedic manifestations of NF1.Level of Evidence: Level V.

Treatment of congenital pseudarthrosis of the tibia (CPT) still is full of challenges in pediatric orthopedist. Serum-derived exosomes (SDEs) have been proven to be participated in bone remodeling. However, the molecular changes in SDEs of CPT children and their pathologies have not been elucidated. In this study, SDEs were isolated and purified from CPT patients (CPT-SDEs) associated with neurofibromatosis type 1 (NF1) and normal children (Norm-SDEs). Then we obtained the proteomics profile of SDEs by combining liquid chromatography-tandem mass spectrometry (LC-MS/MS) and tandem mass tag label-based quantitation. In vitro , the efficacy of SDEs on osteoblastic differentiation of MC3T3-E1 cells and osteoclastogenesis ability of RAW264.7 cells were evaluated by quantitative real-time PCR (qRT-PCR) and cytochemical staining. In vivo , we used micro-CT to assess cortical bone mass and trabecular microstructures to reflect the influence of SDEs on bone remodeling after injection into the tail vein of rats. Based on proteomics analysis, 410 differentially expressed proteins, including 289 downregulated proteins and 121 upregulated proteins, were identified in the CPT-SDEs. These proteins have multiple biological functions associated with cellular metabolic processes, catalytic activity, and protein binding, which are important for cell differentiation and proliferation. In vitro , CPT-SDEs decreased the osteogenic differentiation of MC3T3-E1 cells and promoted the osteoclastogenesis of RAW264.7 cells. Injection of CPT-SDEs into the tail vein for two months resulted in bone loss in rats, as indicated by the decrease in trabecular and cortical bone mass. Our findings demonstrated the differences in proteins in SDEs between normal and CPT children with NF1. These differentially expressed proteins in CPT-SDEs contributed to deteriorating trabecular bone microstructures by inhibiting bone formation and stimulating bone resorption.

Background: Congenital pseudarthrosis of the tibia is a rare and challenging pediatric condition. The pre-fracture state, called congenital tibial dysplasia or anterolateral bowing of the tibia, presents a high fracture risk due to underlying bowing and dysplasia. After fracture, there is a substantial risk of nonunion. Any union achieved may be complicated by refracture, deformity, leg-length discrepancy, stiffness, pain, and dysfunction. We present the results of using distal tibial growth modulation to improve tibial alignment and to decrease fracture risk in this condition. To our knowledge, this is the first report of isolated distal tibial growth modulation as the primary surgical treatment for this condition., Methods: This is a retrospective study of 10 patients with congenital tibial dysplasia who presented prior to pseudarthrosis and underwent distal tibial growth modulation as a primary treatment. The medical records and radiographs were reviewed for age at the times of diagnosis and treatment, fracture, secondary procedures, complications, residual deformity, cystic changes, and leg-length discrepancy., Results: Ten patients had a mean follow-up (and standard deviation) of 5.1 ± 1.9 years. No patient sustained a tibial fracture, and no patient developed a tibial pseudarthrosis after guided growth was initiated. The mean age at the initiation of growth modulation was 2.6 ± 1.3 years. Six patients required a plate exchange. The mean residual tibial diaphyseal angular deformity at the most recent follow-up was 4.3° ± 3.2° of varus and 8.4° ± 5.8° in the sagittal plane. Only 1 patient had a clinically important leg-length discrepancy, with the affected leg being longer., Conclusions: In this series of 10 patients with congenital tibial dysplasia, distal tibial growth modulation delayed or possibly prevented fracture, decreased tibial malalignment, improved radiographic appearance of bone quality, and preserved leg length. No patient developed tibial fracture or pseudarthrosis after the initiation of guided growth treatment. Although early results are promising, follow-up to maturity is required to define the exact role of this simple outpatient procedure in congenital tibial dysplasia., Level of Evidence: Therapeutic Level IV. See Instructions for Authors for a complete description of levels of evidence.

Background and purpose - Congenital pseudarthrosis of the tibia (CPT) is caused by local periosteal disease that can lead to bowing, fracturing, and pseudarthrosis. Current most successful treatment methods are segmental bone transport and vascularized and non-vascularized bone grafting. These methods are commonly hampered by discomfort, reoperations, and long-term complications. We report a combination of a vascularized fibula graft and large bone segment allograft, to improve patient comfort with similar outcomes.Patients and methods - 7 limbs that were operated on in 6 patients between November 2007 and July 2018 with resection of the CPT and reconstruction with a vascularized fibula graft in combination with a bone allograft were retrospectively studied. The mean follow-up time was 5.4 years (0.9-9.6). Postoperative endpoints: time to discharge, time to unrestricted weight bearing, complications within 30 days, consolidation, number of fractures, and secondary deformities.Results - The average time to unrestricted weight bearing with removable orthosis was 3.5 months (1.2-7.8). All proximal anastomoses consolidated within 10 months (2-10). 4 of the 7 grafts fractured at the distal anastomosis between 6 and 14 months postoperatively. After reoperation, consolidation of the distal anastomosis was seen after 2.8 months (2-4). 1 patient required a below-knee amputation.Interpretation - This case series showed favorable results of the treatment of CPT through a combination of a vascularized fibula graft and large bone segment allograft, avoiding the higher reintervention rate and discomfort with ring frame bone transport, and the prolonged non-weight bearing with vascularized fibula transfer without reinforcement with a massive large bone segment allograft.

Background: Congenital pseudarthrosis of the fibula (CPF) is a rare disorder characterized by a deficiency in the continuity of the fibula and can lead to progressive ankle valgus malalignment. An existing classification system for CPF is imperfect and may contribute to heterogeneity in reporting and discrepancy of outcomes in the literature., Methods: Fifteen patients with CPF treated at our institution between 1995 and 2017 were retrospectively identified. Only patients with dysplasia leading to spontaneous fracture or pseudarthrosis were included in this series. The median age at presentation was 2.5 years (range: 3 mo to 13.4 y). The median duration of follow-up from the initial presentation was 11.8 years (range: 2.0 to 24 y). Chart review and serial radiographs were analyzed to assess natural history and outcomes following surgery., Results: The coexistence of tibial dysplasia in CPF is very common. Patients were classified into 3 groups based on the degree of tibial involvement-group 1: no evidence of tibial dysplasia, group 2: mild tibial dysplasia, and group 3: significant tibial dysplasia. Age at presentation and age at which fibular fracture occurred were progressively younger with a greater degree of tibial involvement (P<0.05). In the absence of surgical intervention, group 1 patients did not undergo progressive ankle valgus (defined as the valgus change in tibiotalar angle by ≥4 degrees), whereas all patients in groups 2 and 3 did (P<0.001). Fibular osteosynthesis was performed in 6 patients, with union seen only in group 1 patients. Ten patients underwent distal tibiofibular fusion, with no cases of nonunion seen. Distal tibiofibular fusion with or without medial distal tibial hemiepiphysiodesis halted the progression of ankle valgus in 8 of the 10 patients. Further progression of ankle valgus occurred only in patients who did not undergo concurrent medial distal tibial hemiepiphysiodesis and with considerable wedging of the distal tibial epiphysis at the time of fusion., Conclusions: Tibial dysplasia and CPF are intimately related. Grouping patients on this basis may help guide natural history and treatment and may explain discrepancies in findings in the literature. Fibular osteosynthesis, distal tibiofibular fusion, and medial distal tibial hemiepiphysiodesis may all have an important role in the treatment of CPF., Level of Evidence: Level IV-case series.

Congenital pseudoarthrosis of the tibia (CPT) is a rare disease characterised by the onset of bone anomalies or fractures, leading to deformities in paediatric patients. The aetiology of this pathology is unknown. The main theories include the presence of hamartomatous tissue related to Neurofibromatosis type 1, vascularisation deficit of the periosteum and alterations in the numbers and functions of the osteoblasts and osteoclasts in loco. Surgical treatment generally requires multiple operations during the patient's childhood and adolescence. The best outcomes seem to occur when using intramedullary nailing, vascularised fibular transplant and external fixation with the Ilizarov technique. The purpose of this paper is to evaluate the effectiveness of in-situ injections of Bone Marrow Aspirate Concentrate (BMAC) as an adjuvant therapy for congenital pseudoarthrosis of the tibia in patients treated with external fixation and that of radiographic healing over time compared to external fixation treatment alone. We performed a retrospective review of clinical and radiographic records of patients affected by CPT and treated in the Paediatric Orthopaedics and Traumatology Department of the Gaetano Pini Orthopaedic Institute with in-situ injections of bone marrow aspirate concentrate (BMAC) on the pseudoarthrosis site, in addition to pseudoarthrosis site excision and application of circular external fixator frame in compression (Group A). The time needed to reach the radiological consolidation of the resection site was recorded and compared to that needed for patients treated with only pseudoarthrosis site excision and application of circular external fixator frame in compression (Group B). There is a statistically relevant improvement of healing time in patients affected by congenital pseudoarthrosis of the tibia treated with external fixation and bone marrow aspirate concentrate compared to patients affected by the same pathology treated with external fixation only. Injection of MSC in the pseudoarthrosis site after focus removal in combination with circular external fixation achieves faster bone healing compared with external fixation only, and the lower refracture percentage may be associated with the better quality and structure of the new bone. However, it would be desirable to have a longer followup to determine if the results of the BMC as adjuvant therapy will hold up over time., (Copyright 2020 Biolife Sas. www.biolifesas.org.)

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. The treatment for mobile pseudarthrosis (types 1 and 2) included complete excision of the pathological periosteum, insertion of autogenous iliac crest bone graft, and combined fixation using intramedullary rod and Ilizarov external fixator. For type 3 pseudarthrosis (stiff pseudarthrosis), a pre-constructed Ilizarov fixator was applied for simultaneous distraction of the pseudarthrosis and deformity correction without open surgery. Evaluation of results was mainly radiological and included achievement of union, leg length equalization, deformity correction and prevention of refracture. Consolidation of the pseudarthrosis and osteotomies was achieved in all cases (100%). Refracture occurred in one case (4%) at the site of previous pseudarthrosis. Residual limb length discrepancy more than 2.5 cm occurred in two cases (8%). Valgus deformity of the ankle was present in 12 cases (48%) and was treated by supramalleolar osteotomy. Follow-up ranged from 24 to 48 months (average 36.9 months) after fixator removal. The results of our treatment protocol, based on our classification system, have been consistently good and predictable in all cases of congenital pseudarthrosis of the tibia. Mobility of the pseudarthrosis is an important factor in choosing the type of interference.

Background: A congenital forearm pseudarthrosis is a rare condition and is strongly associated with neurofibromatosis type 1. Several surgical techniques are described in the literature, but the most optimal treatment strategy remains unclear. This systematic review aims to develop a treatment algorithm that may aid in clinical decision making., Methods: The PROSPERO registration number for this study was CRD42018099602 and adheres to the PRISMA guidelines for systematic reviews. Embase, MEDLINE, Cochrane Central, Web of Science, and Google Scholar databases were searched for published studies reporting on congenital forearm pseudarthrosis not related to other underlying pathologies like bacterial infection or fibrous dysplasia. Results were not restricted by date or study type, only English literature was allowed. Studies were assessed for quality using the critical appraisal checklist for case reports from the Joanna Briggs Institute. Patient characteristics, underlying disease, type of surgery, union rate, and functional outcome were extracted from included studies., Results: Of 829 studies identified, 47 were included in this review (17 case series and 30 case reports, a total of 84 cases). A one-bone forearm procedure showed highest union rates (92%), however, it results in loss of forearm rotation. Free vascularized fibula grafting showed high union rates (87%) and was related to good functional outcome of elbow flexion and forearm rotations. Other procedures showed disappointing outcomes., Conclusions: Congenital forearm pseudarthrosis is best treated with a free vascularized fibula grafting, a one-bone forearm procedure should be used as a salvage procedure. Evidence extracted from the case reports was sufficient to generate a treatment algorithm to be used in clinical pediatric practice., Level of Evidence: Level IV-therapeutic.

Objective: This study investigated the clinical and functional results of treating congenital pseudarthrosis of the tibia (CPT) using the combined techniques of hamartoma resection, periosteal grafting, circular external fixator application, and intramedullary rodding., Methods: The clinical and radiological data of 17 patients (mean age at the treatment time: 7.6 months (range: 4.6-9.7 months) with CPT, treated by a single surgeon between 1997 and 2017, were retrospectively analyzed. All data regarding surgical interventions, complications, deformity analysis parameters, limb length discrepancy (LLD), ankle joint range of motion, and residual deformities were reviewed. All the patients were followed up at least two years after the last surgical intervention. The mean follow-up time was 8.5 years (range: 2.2 to 15.7 years)., Results: Union was achieved with the index treatment in 15 of the 17 cases (88.2%). The mean age of the patients at the last follow-up visit was 14.2 years (range: 7.6 to 22.1). The mean LLD was 2.1 cm. Nine patients had radiological ankle valgus at the last follow-up. In the entire series, eight patients did not display any complications, four cases reported minor complications, and five cases were complicated by refractures., Conclusion: Circular external fixator application combined with periosteal grafting is a superior method of CPT treatment. This method provides a healthy biological healing environment while correcting the mechanical problems. The combination of periosteal and cancellous bone grafts with intramedullary rods and an external fixator addresses issues that complicate obtaining and maintaining a union during the CPT treatment., Level of Evidence: Level IV, Therapeutic study.

The congenital pseudoarthrosis of the clavicle is a rare and benign malformation, characterized by the absence of the middle third of the clavicle. It is usually unilateral and the majority on the right side. The etiology is unknown, postulating diverse etiopathogenic theories (vascular, embryological and genetic). It can be detected in the neonatal period or, more frequently, during childhood. Occasionally it can be symptomatic. It may require treatment by surgical reconstruction by bone graft. Two cases are presented, one of neonatal diagnosis and another one of 3 years of age performed with 24 hours of difference. We emphasize on its consideration as a differential diagnosis of obstetric or post-traumatic fracture, cleidocranial dysplasia and neurofibromatosis type I., Competing Interests: The authors report no conflicts of interest in this work., (Sociedad Argentina de Pediatría.)

Background: Congenital pseudarthrosis of the clavicle (CPC) is a rare entity in which the primary ossification center of the clavicle fails to coalesce. The natural history of CPC is unknown, and there is controversy regarding surgical vs. conservative treatment., Methods: A retrospective review of 47 pediatric patients treated for CPC was performed. The Quick Disabilities of the Arm and Shoulder (QuickDASH) survey and the Patient Reported Outcomes Measurement Information System (PROMIS) upper extremity domain were used to assess overall patient satisfaction, function, and quality of life after treatment., Results: Twenty-four of 47 (51%) patients underwent surgical treatment. Of these, 9 patients (38%, 9/24) underwent surgery at <18 months of age using suture fixation alone, whereas the older 15 surgical patients (15/24, 62%) were treated with plate fixation. The younger surgical cohort had a nonunion rate of 43% (3/7) compared with 13% (2/15) in the older cohort. All surgical patients had resolution of preoperative symptoms. Eleven (11/24, 46%) surgical subjects responded to the follow-up survey. Upper extremity function normalized according to the QuickDASH survey (score of 0 for all subjects). The median PROMIS upper extremity domain score was 55, which was also in the normal range., Conclusions: This series of CPC patients improves our understanding of treatment options and outcomes of surgical treatment. All surgical patients had resolution of preoperative symptoms. Patients treated surgically with stable fixation at an older age had higher rates of union than those treated in infancy with suture fixation. Patient-reported outcomes were favorable overall., (Copyright © 2019 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.)

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 (80.0%) were identified as carrying pathogenic variants of the NF1 gene. Twenty-five variants were novel; 53.5% of variants were de novo, and a higher proportion of their carriers presented bone fractures compared to inherited variant carriers. No NF1 pathogenic variants were found in all 20 non-NF1 patients. Clinical features comparing NF1 CPT to non-NF1 CPT did not show significant differences in bowing or fracture onset, lateralization, tissue pathogenical results, abnormality of the proximal tibial epiphysis, and follow-up tibial union after surgery. A considerably higher proportion of non-NF1 patients have cystic lesion (Crawford type III) and used braces after surgery., Conclusions: We analyzed a large cohort of non-NF1 and NF1 CPT patients and provided a new perspective for genotype-phenotype features related to germline NF1 variants. Non-NF1 CPT in general had similar clinical features of the tibia as NF1 CPT. Germline NF1 pathogenic variants could differentiate NF1 from non-NF1 CPT but could not explain the CPT heterogeneity of NF1 patients. Our results suggested that non-NF1 CPT was probably not caused by germline NF1 pathogenic variants. In addition to NF1, other genetic variants could also contribute to CPT pathogenesis. Our findings would facilitate the interpretation of NF1 pathogenic variants in CPT genetic counseling.