Quantitative Analysis of Deformity in Digital Model of Congenital Radioulnar Synostosis.

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.

Congenital radioulnar synostosis: is prenatal diagnosis possible? - A case report.

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.

Preoperative radius head dislocation affects forearm rotation after mobilization of congenital radioulnar synostosis.

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.

Treatment of Recalcitrant Isolated Congenital Fibular Pseudarthrosis: Fibular Segment Transfer and Tibiofibular Synostosis with Unilateral External Fixator.

Isolated congenital pseudarthrosis of the fibula is a rare entity with a limited number of cases reported in the literature. Treatment is challenging because of recalcitrant nonunion and because no consensus about the best treatment plan exists. We report a case of isolated congenital fibular pseudarthrosis with valgus deformity of the ankle. The patient had a history of two failed operations. We used a novel surgical plan that combined tibiofibular synostosis with fibular segment transfer through a unilateral external fixator. The patient showed good early results with fibular union. We advocate the combination of tibiofibular synostosis and fibular segment transfer to restore the integrity and stability of the ankle in recalcitrant isolated congenital fibular pseudarthrosis cases with a history of failed surgery.

[A newborn with a limited elbow function]. / Een zuigeling met een bewegingsbeperking van de arm.

A 14-week-old infant with an abnormal pronated position of the right arm was referred to the surgeon by the pediatrician. On physical examination, pro- and supination of the forearm was limited. Conventional radiography of the elbow showed a bony fusion of the proximal radius and ulna, a radioulnar synostosis.

Treatment of calcaneonavicular coalition accompanied by an accessory anterolateral talar facet.

The association of accessory anterolateral talar facet (AALTF) and tarsal coalition has been reported recently. However, there is no report in the literature examining the clinical outcomes of operative treatment simultaneously addressing both AALTF and tarsal coalition. In this case series, we report the functional outcomes of operative treatment for both AALTF and calcaneonavicular coalition (CNC). Four male patients were admitted to our institution with foot pain. Radiographic examination revealed CNC and accompanying AALTF in all patients. Five feet of these four patients were operated simultaneously for AALTF and CNC. At the final follow-up, the mean Visual Analog Scale score was 1.7±2.4 (range, 0 to 5.5), the mean American Orthopedic Foot and Ankle Society score was 89.6±11.5 (range, 69 to 97), and the mean Foot Function Index was 15.4±19.1 (range, 0 to 43). In conclusion, simultaneous resection of CNC with AALTF seems to have good postoperative clinical outcomes. As AALTF can emerge along with CNC, every patient scheduled for CNC resection should be evaluated for AALTF.

MRI for paediatric flatfoot: is it necessary?

OBJECTIVE: To determine the additional benefit of MRI for children with flatfoot deformity assessed with weight-bearing radiographs in a specialist paediatric orthopaedic unit. METHODS AND MATERIALS: Patient cohort was obtained by searching the Radiology Information System for children referred for investigation of flatfoot. All patients with flatfoot on weight-bearing radiographs who had undergone MRI were included. Radiographs were classified by a consultant musculoskeletal radiologist as showing no underlying abnormality, talo-calcaneal coalition, calcaneonavicular coalition, accessory navicular or other abnormality. MRI studies were classified similarly by a different consultant musculoskeletal radiologist blinded to the radiographic findings. RESULTS: 33 males and 24 females were included (mean age 12.5 years; range 3-18 years). 24 had bilateral abnormality, so 81 feet were assessed. Radiographs showed no specific abnormality (n = 51), talocalcaneal coalition (n = 6), calcaneonavicular coalition (n = 3), os naviculare (n = 12) or other abnormality (n = 9). MRI showed no specific abnormality (n = 40), talocalcaneal coalition (n = 10), calcaneonavicular coalition (n = 5), os naviculare (n = 12) or other abnormality (n = 14). Assuming MRI as the diagnostic gold-standard, additional relevant diagnostic information was identified in 19 (23.5%) cases, while in the 51 cases for which radiographs provided no specific diagnosis MRI confirmed no underlying abnormality in 31 (60.8%). CONCLUSION: MRI is a valuable adjunct to weight-bearing radiography for investigating paediatric flatfoot deformity. ADVANCES IN KNOWLEDGE: MRI is of value in the assessment of paediatric flatfoot, additional diagnostic information to radiography being identified in 23.5% cases, while in 60.8% of cases for which radiographs provided no specific diagnosis MRI confirmed no underlying abnormality.

Surgical Treatment of Calcaneonavicular and Talocalcaneal Coalitions.

Tarsal coalition is determined by an absence of segmentation between one or more foot bones. The main symptom is activity-related foot pain, usually dorsolateral for calcaneonavicular coalitions and medial for talocalcaneal ones. At presentation, a symptomatic tarsal coalition must be treated conservatively for at least 6 months. If the conservative treatment fails and the foot is still painful, resection is the treatment of choice. Advantage of surgery is to restore mobility and reduce the risk of subsequent degenerative arthritis. Common pitfalls of surgery include failure to recognize associated coalitions, inadequate or extensive resection, and injury of adjoining bones.

Poland's syndrome concomitant with congenital proximal and distal radioulnar synostosis: A rare case report.

Radioulnar synostosis is a rare disease which causes supination and pronation restriction as a result of osseous or fibrous connections between the radius and ulna. Radioulnar synostosis includes both congenital and post-traumatic types. Post-traumatic radioulnar synostosis can be seen in the proximal, middle, and distal part of the forearm, depending on the location of the trauma. Congenital proximal radioulnar synostosis occurs as a result of a separation defect between the radius and ulna in the embryonic period. In the presence of congenital proximal radioulnar synostosis, the patient should be evaluated for accompanying syndromes and possible developmental anomalies. In this report, we present a rare case of both proximal and distal radioulnar synostosis. Hypoplasia of the right pectoral muscle mass, hypoplastic appearance of the right nipple, presence of proximal and distal radioulnar synostosis in the right forearm, and accompanying symbrachydactyly suggested Poland syndrome. To the best of our knowledge this is the first case of congenital proximal and distal radioulnar synostosis with Poland syndrome.

Bilateral Proximal Tibiofibular Synostosis Caused by Osteochondroma in a 21-Year-Old Highly Active Male-First in Literature.

Background and Objectives: Up until now, only one case of unilateral proximal tibiofibular synostosis caused by osteochondroma has been reported. This report is the first well-documented bilateral case of proximal tibiofibular synostosis caused by an osteochondroma. Case Report: A 21-year-old, highly active male patient with bilateral proximal tibiofibular synostosis caused by an osteochondroma suffering from persistent knee pain is presented. As conservative methods had failed, the patient was treated by bilateral open resection of the connecting bone. Histopathological findings confirmed the preoperative diagnosis. The patient returned to sports three weeks after surgery and continued soccer training six weeks after surgery. Discussion: The case report presents the successful treatment of a bilateral proximal tibiofibular synostosis caused by an osteochondroma by bilateral open resection of the connecting bone.

Natural Progression and Symptomatic Management of Tarsal-Carpal Coalition Syndrome: A Case Report.

CASE: Tarsal-carpal coalition syndrome (TCCS) is a disorder identified by fusion of the carpals, tarsals, and phalanges of the hands and feet. We describe a case of an 11-year-old girl who has been followed at our outpatient clinic from the age of 8 months. CONCLUSION: Although patients with TCCS can experience a wide range of symptoms, the primary complaint arises from the foot deformity and associated pain. Using advanced imaging such as 3D computed tomography reconstruction and genetic testing, this report details the clinical, genetic, and radiographic characteristics of the disorder. We highlight the natural progression and symptomatic management of TCCS.

GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment.

Multiple synostoses syndrome type 4 (SYNS4; MIM 617898) is an autosomal dominant disorder characterized by carpal-tarsal coalition and otosclerosis-associated hearing loss. SYSN4 has been associated with GDF6 gain-of-function mutations. Here we report a five-generation SYNS4 family with a reduction in GDF6 expression resulting from a chromosomal breakpoint 3' of GDF6. A 30-year medical history of the family indicated bilateral carpal-tarsal coalition in ~50% of affected family members and acquired otosclerosis-associated hearing loss in females only, whereas vertebral fusion was present in all affected family members, most of whom were speech impaired. All vertebral fusions were acquired postnatally in progressive fashion from a very early age. Thinning across the 2nd cervical vertebral interspace (C2-3) in the proband during infancy progressed to block fusion across C2-7 and T3-7 later in life. Carpal-tarsal coalition and pisiform expansion were bilaterally symmetrical within, but varied greatly between, affected family members. This is the first report of SYNS4 in a family with reduced GDF6 expression indicating a prenatal role for GDF6 in regulating development of the joints of the carpals and tarsals, the pisiform, ears, larynx, mouth and face and an overlapping postnatal role in suppression of aberrant ossification and synostosis of the joints of the inner ear (otosclerosis), larynx and vertebrae. RNAseq gene expression analysis indicated >10 fold knockdown of NOMO3, RBMXL1 and NEIL2 in both primary fibroblast cultures and fresh white blood cells. Together these results provide greater insight into the role of GDF6 in skeletal joint development.

Multiple synostoses syndrome: Radiological findings and orthopedic management in a single institution cohort.

PURPOSE: Multiple synostoses syndrome (MSS) is a rare genetic condition. Classical features consist of joint fusions which notably start at the distal phalanx of the hands and feet with symphalangism progressing proximally to carpal, tarsal, radio-ulnar, and radio-humeral joints, as well as the spine. Usually, genetic testing reveals a mutation of the NOG gene with variable expressivity. The goal was to present the anatomical, functional, and radiological presentations of MSS in a series of patients followed since childhood. METHODS: Patients with more than 3 synostoses affecting at least one hand joint were included. When possible, genetic screening was offered. RESULTS: A retrospective study was performed from 1972 to 2017 and included 14 patients with a mean follow-up of 18.6 years. Mutation of the NOG protein coding gene was seen in 3 patients. All presented with tarsal synostoses including 9 carpal, 7 elbow, and 2 vertebral fusions. Facial dysmorphia was seen in 6 patients and 3 were hearing-impaired. Surgical treatment of tarsal synostosis was performed in 4 patients. Progressing joint fusions were invariably seen on x-rays amongst adults. CONCLUSION: Long radiological follow-up allowed the assessment of MSS progression. Feet deformities resulted in a severe impact on quality of life, and neurological complications secondary to spine fusions warranted performing at least one imaging study in childhood. As there is no treatment of ankylosis, physiotherapy is not recommended. However, surgical arthrodesis for the treatment of pain may have reasonable outcomes.

Prospective Evaluation of Tarsal Coalition Excision Show Significant Improvements in Pain and Function.

BACKGROUND: Excision of pediatric tarsal coalition has been successful in most patients. However, some patients have ongoing pain after coalition excision. This study prospectively assessed patient-based clinical outcomes before and after surgical excision of tarsal coalition, with particular emphasis on comparison to radiologic imaging. METHODS: We prospectively studied 55 patients who had symptomatic coalition excision for 2 years postoperatively. Patients filled out the modified American Orthopaedic Foot and Ankle Society score, the University of California Los Angeles activity score, and the simple question "does foot pain limit your activity" at 4 different time points: preoperative, 6 months postoperative, 12 months postoperative, and 24 months postoperative. Comparisons were done utilizing patient demographics, imaging parameters, and patient-reported outcomes. RESULTS: Compared with preoperative levels, patients showed improvements in all outcome parameters. Patients with calcaneonavicular coalitions showed initial rapid improvement with later slight decline, while patients with talocalcaneal coalitions showed more steady improvement; both were similar at 2 years postoperatively. CONCLUSIONS: This prospective study demonstrated remarkable clinical improvements after tarsal coalition excision regardless coalition type, though postoperative courses differed between calcaneonavicular and talocalcaneal types. Finally, a subset of patients has ongoing activity limiting foot pain after coalition excision which could not be explained by the data in this study. LEVEL OF EVIDENCE: Level II-prospective cohort study.

Congenital Radioulnar Synostosis.

Congenital radioulnar synostosis is a rare condition resulting in fusion of the proximal portions of the radius and ulna. Patients commonly present in early childhood with functional deficits because of limited forearm rotation and fixed positioning of the forearm. Compensatory motion and hypermobility are frequently observed at the wrist and shoulder, which may predispose these joints to overuse injury. Plain radiographs are used for diagnosis and classification. The most commonly used classification does not aid in treatment decisions. Limited high-level evidence exists to guide management because the literature primarily consists of case reports and case series. Nonsurgical management is often used, yet surgical management is most commonly reported in the literature. Resection of the synostosis has been shown to have high-complication rates and lead to subpar outcomes. Currently, surgical management most commonly involves one or more derotational osteotomies.