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Introduction: Congenital radioulnar synostosis (CRUS) is a rare condition characterized by the fusion of the radius and ulna bones in the forearm, resulting in limited forearm rotational movement. Case Report: We present a unique case of a 26-year-old male who suffered a forearm injury following a road traffic accident. Initial evaluation revealed a malformed proximal radius and distal radioulnar joint, and the presence of radioulnar synostosis, along with a fracture at the junction of the radius and ulna. Open reduction internal fixation was performed, followed by structured rehabilitation. At 6-month follow-up, significant improvement in forearm motion was observed, enabling the patient to perform daily activities independently. Conclusion: This case underscores the importance of comprehensive evaluation in traumatic injuries and understanding the anatomy and function of the forearm complex. It also highlights the efficacy of surgical intervention and rehabilitation in restoring function and quality of life for patients with this rare condition. This report contributes to the limited literature on managing fractures in the context of CRUS and emphasizes the need for further research in this area.

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The medical literature does not currently report a case of co-occurring congenital thumb aplasia, radioulnar synostosis (RUS), and Chiari malformation with scoliosis. Furthermore, there is an overlap of clinical features with other documented syndromes and associations that have potential cardiac, gastrointestinal, hematologic, and nephrological implications, thus contributing to increased morbidity and mortality if left undetected. We describe an interesting case of congenital thumb aplasia, RUS, and Chiari malformation with scoliosis in the absence of non-musculoskeletal abnormalities. These findings prompted further investigation to determine whether this is a unique presentation of a previously described syndrome, due to teratogenic exposure in utero, or a syndromic association yet to be adequately identified by the scientific community. We also identified several candidate genes that may guide genetic testing in the future.

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Introduction: Radioulnar synostosis is an uncommon complication of forearm fractures and presents with varying degrees of restricted forearm movement. The diaphysial distal third synostosis is less common and excision of the synostosis is fraught with risk of re-ossification. Use of inert or biological interposing material has thus been accompanied with the synostosis excision and various methods have been described. There is still no consensus on the ideal treatment method. Case Report: We, hereby, report a case of a long-standing radioulnar synostosis with rotational restriction of movement. Despite the movement restriction, the patient could perform basic activities of daily living and wanted to improve the movements. The presence of diaphyseal radioulnar synostosis was conformed on the radiographs and computerized tomography scan. A volar forearm approach was used and the bony bridge was excised. The ipsilateral native palmaris longus (PL) tendon was extracted from distal wrist crease and with its proximal attachment intact, circumferentially wrapped around the ulnar raw surface as an interposing material. Apart from this, free fat was also placed at the synostosis site. In the long-term follow-up of 10 years, there was no radiological evidence of re-ossification noted. The clinical improvement was not much but the patient was performing activities of daily living with no discomfort. Conclusion: The use of an encircling loop of the native PL tendon, over the raw surface of one of the forearm bones, may be another useful method to decrease the chances of recurrence following the excision of the synostosis.

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In the forearm, posttraumatic heterotopic ossification usually forms as a proximal radioulnar synostosis. It can occur after soft tissue injury involving the interosseous membrane or after surgery involving the radio and ulna, such as distal biceps tendon repair. It can also be induced by radial head dislocation or fracture. Screening radiography can be used to select the appropriate time for excision. The synostosis can be resected when the ectopic bone margin and trabeculation appear mature on radiographs. An interval of 6-12 months from the injury is generally recommended based on ectopic bone maturity. Selection of the surgical approach depends on site, extension (elbow joint or proximal radioulnar joint), severity of the initial articular surface, and periarticular tissue injury. The posterolateral approach is indicated for synostoses: at or distal to the bicipital tuberosity, at the level of the radial head, and proximal radioulnar joint. The posterior global approach is recommended when the forearm synostosis is associated with complete bony ankylosis of the elbow involving the distal aspect of the humerus. After surgical resection of a proximal radioulnar synostosis, the exposed bone surfaces can be covered with interposition material to minimize recurrence.

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Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) type 2, caused by MDS1 and EVI1 complex locus (MECOM) gene mutations, is a rare inherited bone marrow failure syndrome (IBMFS) with skeletal anomalies, characterized by varying presentation of congenital thrombocytopenia (progressing to pancytopenia), bilateral proximal radioulnar synostosis, and other skeletal abnormalities. Due to limited knowledge and heterogenous manifestations, clinical diagnosis of the disease is challenging. Here we reported a novel MECOM mutation in a Chinese boy with typical clinical features for RUSAT-2. Trio-based whole exome sequencing of buccal swab revealed a novel heterozygous missense mutation in exon 11 of the MECOM gene (chr3:168818673; NM_001105078.3:c.2285G > A). The results strongly suggest that the variant was a germline mutation and disease-causing mutation. The patient received matched unrelated donor hematopoetic stem cell transplantation (HSCT). This finding was not only expanded the pathogenic mutation spectrum of MECOM gene, but also provided key information for clinical diagnosis and treatment of RUSAT-2.

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BACKGROUND: The Boyd approach is a single-incision posterior approach to the proximal radius and ulna based on a lateral anconeus muscle reflection and release of the lateral collateral ligamentous complex. This approach remains a lesser-used technique following early reports of proximal radioulnar synostosis and postoperative elbow instability. Although limited by small case series, recent literature does not support these early reported complications. This study presents a single surgeon's outcomes using the Boyd approach for the treatment of simple to complex elbow injuries. METHODS: Following institutional review board approval, a retrospective review of all patients with simple to complex elbow injuries treated consecutively using a Boyd approach by a shoulder and elbow surgeon was conducted from 2016 to 2020. All patients with at least 1 postoperative clinic visit were included. Data collected included patient demographics, injury description, postoperative complications, elbow range of motion, and radiographic findings including heterotopic ossification and proximal radioulnar synostosis. Categorical and continuous variables were reported using descriptive statistics. RESULTS: A total of 44 patients were included with an average age of 49 years (range 13-82 years). The most commonly treated injuries were Monteggia fracture-dislocations (32%) and terrible triad injuries (18%). Average follow-up was 8 months (range 1-24 months). Final average elbow active arc of motion was from 20° (range 0°-70°) of extension to 124° (range 75°-150°) of flexion. Final supination and pronation were 53° (range 0°-80°) and 66° (range 0°-90°), respectively. There were no cases of proximal radioulnar synostosis. Heterotopic ossification contributing to less than functional elbow range of motion occurred in 2 (5%) patients who elected conservative management. There was 1 (2%) case of early postoperative posterolateral instability due to repair failure of injured ligaments that required revision using a ligament augmentation procedure. Five (11%) patients experienced postoperative neuropathy, including 4 (9%) with ulnar neuropathy. Of these, 1 underwent ulnar nerve transposition, 2 were improving, and 1 had persistent symptoms at final follow-up. CONCLUSIONS: This is the largest case series available demonstrating the safe utilization of the Boyd approach for the treatment of simple to complex elbow injuries. Postoperative complications including synostosis and elbow instability may not be as common as previously understood.

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Background and Objectives: Only nine patients with interstitial de novo 8q22.2q22.3 microdeletions have been reported to date. The objective of this report is to present clinical features of a new patient with an 8q22.2q22.3 microdeletion, to compare her phenotype to other previously reported patients, and to further expand the phenotype associated with this microdeletion. Materials and Methods: We describe an 8½-year-old girl with developmental delay, congenital hip dysplasia, a bilateral foot deformity, bilateral congenital radioulnar synostosis, a congenital heart defect, and minor facial anomalies. Results: Chromosomal microarray analysis revealed a 4.9 Mb deletion in the 8q22.2q22.3 region. De novo origin was confirmed by real-time PCR analysis. Conclusions: Microdeletions in the 8q22.2q22.3 region are characterized by moderate to severe intellectual disability, seizures, distinct facial features and skeletal abnormalities. In addition to one already reported individual with an 8q22.2q22.3 microdeletion and unilateral radioulnar synostosis, this report of a child with bilateral radioulnar synostosis provides additional evidence, that radioulnar synostosis is not an incidental finding in individuals with an 8q22.2q22.3 microdeletion. Additional patients with similar microdeletions would be of a great importance for more accurate phenotypic description and further analysis of the genotypic-phenotypic relationship.

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Introduction: Despite several techniques for corrective osteotomy in congenital radioulnar synostosis (CRUS) the published literature lacks a guide for radiographic planning and rationale for the site and level of the osteotomy. The primary objective of this study is to report a technique of radiographically controlled corrective osteotomy using the axis of rotation of the forearm in CRUS. Materials and methods: Children with CRUS underwent corrective osteotomy based on radiographic planning; the extent of rotational correction and functional outcomes were assessed at a mean of 27 months after the operation. Results: Seven forearms in six children of an average of 6.25 years were assessed for correction and functional outcomes. The average pre-operative pronation deformity was 71.5°. The average correction achieved was 64°. At follow-up, there were five excellent and two good functional outcomes. All children could perform daily tasks besides eating with hand and personal hygiene. Conclusion: Radiographic determination of the osteotomy sites by the method described is effective, consistent, and reproducible in achieving optimal functional outcomes in congenital radioulnar synostosis.

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The MECOM gene encodes multiple protein isoforms that are essential for hematopoietic stem cell self-renewal and maintenance. Germline MECOM variants have been associated with congenital thrombocytopenia, radioulnar synostosis and bone marrow failure; however, the phenotypic spectrum of MECOM-associated syndromes continues to expand and novel pathogenic variants continue to be identified. We describe eight unrelated patients who add to the previously known phenotypes and genetic defects of MECOM-associated syndromes. As each subject presented with unique MECOM variants, the series failed to demonstrate clear genotype-to-phenotype correlation but may suggest a role for additional modifiers that affect gene expression and subsequent phenotype. Recognition of the expanded hematologic and non-hematologic clinical features allows for rapid molecular diagnosis, early identification of life-threatening complications, and improved genetic counseling for families. A centralized international publicly accessible database to share annotated MECOM variants would advance their clinical interpretation and provide a foundation to perform functional MECOM studies.

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Background and Objectives: Proximal radioulnar synostosis (PRUS) is the most frequent congenital forearm disorder, although the prevalence in the general population is rare with a few hundred cases reported. Pfeiffer, Poland, Holt-Oram, and other serious congenital syndromes contain this abnormality. Non-syndromic cases with isolated PRUS very often exhibit as SMAD6, NOG genes variants, or sex chromosome aneuploidy. A subgroup of patients with haematological abnormalities presents with HOXA11 or MECOM genes variants. Case report: We present a non-syndromic adult elite ice-hockey player with unilateral proximal radioulnar synostosis of the left forearm. In early childhood he was able to handle the hockey stick only as a right-handed player and the diagnosis was set later at the age of 8 years due to lack of supination. Cleary-Omer Type III PRUS was found on x-ray with radial head hypoplasia and mild osteophytic degenerative changes of humeroulnar joint. Since the condition had minimal impact on sports activities, surgical intervention was not considered. The player continued his ice-hockey career at the top level and joined a national team for top tournaments. Upper extremity function assessment with questionnaires and physical testing resulted in minimal impairment. The most compromised tool was the Failla score with 10 points from a total of 15. Genetic testing with Sanger sequencing revealed no significant pathogenic variant in SMAD6, NOG, and GDP5 genes. No potentially pathogenic copy number variants were detected by array-based comparative genomic hybridization. Conclusions: In the reported case, the ability of an athlete to deal with an anatomic variant limiting the forearm supination is demonstrated. Nowadays, a comprehensive approach to rule out more complex musculoskeletal impairment and family burden is made possible by evolving genetics.

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Objective: To review the radiographic manifestation and clinical appearance of children with congenital radioulnar synostosis (CRUS) retrospectively. Study design: Retrospective cohort study of children with CRUS from multiple medical centers. Results: A total of 329 patients (male 259, female 70) with an average age of 5.4 years (0.5-16 years old), were included in this study. In particular, 145 patients (145/329, 44.1%) demonstrated bilateral involvement, and 184 patients (left 123, right 61) demonstrated unilateral involvement. As for Clear and Omery (C&O) classification, most patients belonged to Type III, and then followed by Type IV. As for Chinese Multi-center Pediatric Orthopedic Study Group (CMPOS) classification, most patients belonged to Type III, and then followed by Type II and Type I. In C&O Type III, 92.03% patients demonstrated severe pronation. According to CMPOS classification, 92.98% Type I patients demonstrated neutral to mild pronation, 72.17% Type II patients demonstrated moderate pronation, and 92.03% Type III patients demonstrated severe pronation. The age distribution showed no significant difference between C&O Type II and IV (P = 0.96); the pronation ankylosis severity showed no significant difference between C&O Type II and IV (P = 0.387). Conclusion: Although CRUS is a rare forearm deformity, there are certain relation between radiographic manifestation and clinical forearm functional restriction. CRUS patients of C&O or CMPOS Type III classification might suffer severe pronation deformity and warrant early intervention.

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OBJECTIVE: The deformity of congenital radioulnar synostosis is quite complicated and difficult. This study aims to find out the related factors of the "forearm rotation angle" (FR) which relate to the severity of congenital radioulnar synostosis (CRUS), and try to quantify the internal relations of each deformity and help to understand the reconstruction method in surgery treatment of this disease. METHODS: This study is case series research. We established 48 digital three-dimensional forearm bone models of 48 patients with congenital radioulnar synostosis classified as Cleary and Omer type 3. All the patients were treated at our institution from January 2010 to June 2016. In total, 10 independent deformities (the rotation angle of forearm; the internal rotation, radial, and dorsal angulation of radius and ulna; the relative length of osseous fusion at PRUJ; the relative dislocation distance of distal radioulnar joint; the relative area of proximal radial epiphysis) involved in the CRUS complex deformity were measured. Pearson correlation analysis for each deformity which was mentioned above was performed, and multivariate linear regression analysis was also performed with FR as the dependent variable and the other deformities as the influential factors. RESULTS: The "dorsal angle of radius" (DAR, 21.69° ± 21.55°) had the strongest correlation with the FR (79.72° ± 40.39°), the Pearson correlation coefficient was 0.601 (p < 0.01), the internal rotation angle of the radius (IRAR, 82.69° ± 54.98°) had a moderate correlation with FR, the Pearson correlation coefficient was 0.552 (p < 0.01). A forearm deformity equation was established: FR = 35.896 + 0.271 DAR + 0.989 IRAR. CONCLUSION: The dorsal angulation deformity of radius may be the most important deformity that effects the severity of CRUS and should be correct in the first place during reconstruction operation.

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OBJECTIVES: The main objectives of this case report are to discuss prenatal ultrasound findings of congenital radioulnar synostosis and to review the literature. CASE REPORT: A patient was diagnosed with congenital radioulnar synostosis at eight months old when parents noticed limited motions in the child's left forearm. The parent denied any traumatic or family history of bony malformations. Physical examination by a pediatric orthopedics specialist and digital radiography revealed proximal radioulnar synostosis. The case report includes perinatal course, comparison between the postnatal radiography and fetal ultrasound images. CONCLUSION: Congenital radioulnar synostosis is often associated with sex chromosome abnormalities and congenital musculoskeletal disorders or syndromes affecting limbs. Isolated congenital radioulnar synostosis is hardly diagnosed before birth, in some cases even have been neglected postnatally. Knowing the developmental milestones of the forearm and specified high-risk groups might help develop a targeted screening strategy to increase the possibility of early detection and intervention.

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We read the article "Rare complication of open reduction and internal fixation of fracture distal radius: A case report of distal radioulnar synostosis" by Ahmed Elmahdi [1], with a lot of interest. We commend the authors efforts in describing a rare case of distal radioulnar synostosis after open reduction and internal fixation for distal radius fracture. It is the purpose of this letter-to-the-editor to express our opinion, which is based on the research that has been published, which indicates that our opinion is supported by the research.

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Congenital radioulnar synostosis is a rare musculoskeletal disorder of the elbow, occurring as a result of variable degree and length of the congenital fusion of the proximal radioulnar joint. Patients presents early to the hospital depending on the severity of the synostosis and its effect on elbow function. It may have psychosocial effects on the affected individuals as they grow older especially when the deformity is dramatic. Treatment may be conservative, surgical (which may have a variable degree of success) and psychotherapy.

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BACKGROUND: The present study was carried out to answer three questions: 1) How much forearm rotation can be expected after mobilization of congenital radioulnar synostosis (CRUS)? 2) Does preoperative radius head dislocation affect forearm rotation after mobilization? 3) What factors other than radius head dislocation affect postoperative forearm rotation? METHODS: We performed mobilization of CRUS with a free vascularized fascio-fat graft and a radius osteotomy (Kanaya's procedure) on 26 forearms of 25 patients. The age at the surgery ranged from 5.3 to 13.4 years. The follow-up duration ranged 24-111 months. We classified CRUS into 3 groups according to the dislocation of the radius head: posterior dislocation (N = 13), anterior dislocation (N = 9) and no dislocation (N = 4). Since major complaints of patients and parents were poor forearm rotation and lack of supination, they were evaluated separately. RESULTS: Mean preoperative forearm ankylosis angle was 34.8° (range; neutral to 90° pronation). Preoperative pronation ankylosis angle was higher in the posterior dislocation group (mean 55.3°) than the anterior dislocation (mean 11.6°) and no dislocation groups (mean 5.0°). There was no re-ankylosis after mobilization and the mean postoperative active range of motion (ROM) was 86.5°. The mean active ROM was 75.7° in the posterior dislocation group, 96.1° in anterior dislocation group and 100.0° in no dislocation group. The mean active supination was 6.9, 33.9 and 47.5° respectively. The posterior dislocation group showed less ROM and less supination than other groups. Preoperative pronation ankylosis angle showed negative correlation with postoperative ROM (ρ = - 0.59) and postoperative supination (ρ = - 0.73). CONCLUSION: The mean postoperative active ROM of this mobilization was 86.5°. Posterior dislocation group showed higher pronation ankylosis angle preoperatively, and less postoperative ROM and less supination than anterior and no dislocation groups. Preoperative pronation ankylosis angle showed negative correlation with postoperative ROM and supination.

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@#Introduction: Despite several techniques for corrective osteotomy in congenital radioulnar synostosis (CRUS) the published literature lacks a guide for radiographic planning and rationale for the site and level of the osteotomy. The primary objective of this study is to report a technique of radiographically controlled corrective osteotomy using the axis of rotation of the forearm in CRUS. Materials and methods: Children with CRUS underwent corrective osteotomy based on radiographic planning; the extent of rotational correction and functional outcomes were assessed at a mean of 27 months after the operation. Results: Seven forearms in six children of an average of 6.25 years were assessed for correction and functional outcomes. The average pre-operative pronation deformity was 71.5°. The average correction achieved was 64°. At follow-up, there were five excellent and two good functional outcomes. All children could perform daily tasks besides eating with hand and personal hygiene. Conclusion: Radiographic determination of the osteotomy sites by the method described is effective, consistent, and reproducible in achieving optimal functional outcomes in congenital radioulnar synostosis.

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Case: A 57-years old man who sustained left distal radius fracture. We performed distal radius ORIF. At follow up visit, he could not achieve any supination-pronation movements. Radiographs showed radioulnar synostosis. Four months later, we performed excision of synostosis with interposition of fat graft in the left forearm. A year later, the patient showed good forearm pronation and supination. Conclusion: This a rare case of radioulnar synostosis after ORIF distal radius fracture. Surgical intervention will help to improve the outcomes.