Intrafamilial Variability of the R694C Variant in BICD2 Presenting with Lethal Severe Arthrogryposis

Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition comprising congenital multiple joint contractures, and it is secondary to decreased fetal mobility following environmental/genetic abnormalities. BICD2 pathogenic variants have been associated with autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED2). We report the case of a newborn with decreased fetal movements and ventriculomegaly diagnosed in utero, born with severe AMC, multiple bone fractures, congenital hip dislocation, and respiratory insufficiency that led to neonatal death. His mother had AMC diagnosis without established etiology. Her phenotype characterization was key to guide the genetic investigation. A BICD 2 heterozygous variant (NM_001003800.1; c.2080C > T; p. [Arg694Cys]) was detected both in the mother and the newborn. This variant had previously been reported in 3 cases, all having de novo severe SMALED-type 2B (MIM#618291) phenotype. This is the first report of this variant (p. [Arg694Cys]) presenting with an inherited, severe, and lethal phenotype associated to intrafamilial variability, suggesting a more complex phenotype-genotype correlation than previously stated.

Open Surgical Hip Dislocation for an Acetabular Osteoid Osteoma - A Case Report

Osteoid osteoma is a benign tumor that accounts for roughly 10-12% of all benign bone forming tumors. This tumor generally occurs within the first three decades of life and occurs more commonly in males. This lesion is painful and is generally worse at night and has relief of symptoms with the use of NSAIDs. Osteoid osteoma is characterized by the production of osteoid surrounded by a rim of sclerotic bone. These lesions most commonly occur in long bones such as the proximal femur, however they can occur anywhere. Rarely, as with our patient, have these lesions been reported in the acetabulum.

Simultaneous Ipsilateral “Floating Hip” with Hip Dislocation and Femoral Neck and Shaft Fractures Associated with “Floating Knee” Injuries with Patella Fracture and Traumatic Sciatic Nerve Injury

Simultaneous ipsilateral “floating-hip” and “floating-knee” injuries are very rare and severe, and they occur in high-velocity road traffic accidents. A 55-year-old man presented with posterior wall fracture – dislocation of the acetabulum, complete fracture – dislocation of the femoral head, ipsilateral femoral shaft fracture, open patellar fracture, Gustilo type II, tibial fracture, and traumatic sciatic nerve injury/peroneal division. Given the fact that hip dislocation is an orthopedic emergency, we first did closed external tibial fixation, femoral head reduction, osteosynthesis of the acetabular fracture, and partial patellectomy. After 2 days, the patient underwent a second surgery; fixation of the neck and femoral shaft fractures was done, with a self-dynamic internal fixator. After 14 months from the injuries, radiographs show complete healing of all fractures, the patient walks independently without crutches, and the peroneal nerve is partially recovered. Despite the seriousness of the presented injuries, we did not have any complications, and 14 months after the injury, the femoral head is still viable, with no signs of femoral head osteonecrosis.

Outcome of surgically treated acetabular fractures: risk factors for postoperative complications and for early conversion to total hip arthroplasty

Introduction: Acetabular fractures (AFxs) are rare injuries considering their incidence. The gold standard of treatment is open reduction and internal fixation (ORIF). Surgical treatment represents a challenge for orthopedic surgeons. Our purpose is to assess the short- to medium-term functional outcomes and complications of surgically treated AFx. We analysed the factors influencing clinical outcomes, the incidence of complications and the predictors of conversion in total hip arthroplasty (THA).Materials and Methods: We retrospectively analysed 102 patients with AFx treated between December 2017 and September 2020. The inclusion criteria were AFx treated with ORIF and more than 12 months of follow-up (FU). We evaluated the quality of reduction with X-ray measuring residual displacement, classified into 3 groups (Matta Radiological Score). Postoperative superficial and deep infections, neurological sequelae and deep vein thrombosis were documented. X-rays were performed to confirm the adequacy of fixation and complications. At the final FU, the radiographs were graded according to Matta’s Radiological Outcome Grading, and the clinical outcomes were graded using the Oxford Hip Score (OHS).Results: Of 102 patients, 62 patients were enrolled. The statistical analysis revealed that OHS was influenced by quality of reduction (P=0.033), injury severity score (ISS) (P=0.005) and age (> 75 years) (P=0.029). A significant correlation between the patient’s BMI and the OHS was recorded. The late sequelae were heterotopic ossification (HO) in 13 patients, osteoarthritis (OA) in 22 and avascular necrosis (AVN) in 4. HO was significantly affected by the posterior approach (P=0.031) and by an ISS > 15 (P= 0.0003). The analysis showed a correlation between AVN and posterior hip dislocation (P=0.004). OA had a correlation with postoperative quality of reduction (P=0.014). Eight patients required THA. Comparing patients with and without THA, a significant correlation between THA and posterior dislocation (P=0.022), isolated posterior wall fracture (P=0.039) and ISS > 15 (P=0.029) was recorded.Conclusion: Despite the improvement of surgical techniques and perioperative care, a high rate of patients with AFx still develop complications and require THA. Identifying negative predictors to help the management of fractures in elderly individuals is needed. Furthermore, the presence of negative predictors could represent an indication for primary THA.

Development of a wearable orthotic device pattern to prevent hip dislocation in children with cerebral palsy

PurposeThis study suggest the development of a wearable orthotic device pattern that can reduce pain and deformation, and help in the normal development of children with cerebral palsy. Such a pattern enables daily wear before hip subluxation occurs, to prevent hip dislocation and subluxation.Design/methodology/approachThis study set the design line by carrying out cell work on the actual model, then proceeded with the first pattern design. The final version of the second orthotic device was designed by conducting discussions with experts and the patient's guardian, with the device fitted to the child patient. The evaluation of the second orthotic device used the virtual model to check the pressure area and level through virtual fitting. An evaluation was then conducted with the device fitted to the child patient, to verify the functionality and suitability of the final pattern.FindingsFollowing the initial fitting evaluation, the second pattern was presented after modifying and supplementing issues such as movement suitability with posture change, position change of the great trochanter when wearing a diaper, pressure control of the X-shaped band on the genital area and thigh abduction. The master pattern of the final version of the second orthotic device was proposed after confirming that the femoral head of the hip joint was stably fixed, and the compression was applied through a verification based on the virtual fitting using the virtual model, and with the device fitted to the child patient.Originality/valueWith this study, it is expected that the process and design plan for the development of wearable orthotic device patterns for the persons with disabilities impaired mobility can be used as a basic resource to create devices that merge the clothing and medical fields.

Effect of Botulinum Toxin Injection on the Progression of Hip Dislocation in Patients with Spastic Cerebral Palsy: A Pilot Study

Hip adductor spasticity is a contributing factor to hip dislocation in patients with cerebral palsy (CP). We hypothesized that botulinum toxin injected into the hip adductor muscles would reduce spasticity and help prevent hip dislocation. Twenty patients with bilateral spastic CP aged 2 to 10 years with gross motor function classification system level IV or V were included. Botulinum toxin was injected into the hip adductor muscles at baseline and at 6-month follow-up. Muscle tone was measured with an eight-channel surface electromyography (EMG) recorder. A hip X-ray was performed, and Reimer’s hip migration index (MI) was measured. The Wilcoxon signed-rank test was used to compare the surface EMG values of the hip muscles at baseline and follow-up. The mean root mean square surface EMG value of the hip adductor muscles was significantly reduced at 1, 2, 3, and 7 months after the first injection, up to approximately 53% of the baseline. The 1-year progression of the hip MI was −0.04%. Repeated sessions of botulinum toxin injections at the hip adductor muscles significantly reduced muscle tone and hip displacement. A botulinum toxin injection may be used as an adjunctive treatment in the prevention of hip dislocation.

Radiological Outcomes of Femoral Head Resection in Patients with Cerebral Palsy: A Retrospective Comparative Study of Two Surgical Procedures

Background: We conducted this study to compare postoperative radiological outcomes of two surgical procedures (femoral head resection (FHR) and femoral head cap plastic surgery (FCP)) in patients with CP and hip dislocation. Methods: CP patients with Gross Motor Function Classification Score (GMFCS) IV or V, who underwent either FHR or FCP between 2007 and 2018 at Heidelberg University Hospital in Germany, were included. Most participants underwent postoperative traction in an attempt to prevent telescoping. Besides the above-mentioned objectives, we examined the association between telescoping and spasmolytic use, traction weight, and traction duration. Results: Thirty-eight CP patients were included, of whom 15 (25 hips) underwent FHR and 23 (30 hips) underwent FCP. Heterotopic ossification (grades I, II, and III) occurred in 80% and 83.3% of patients in the FHR and FCP groups, respectively. Telescoping occurred in 18.68 and 31.99% of patients in the FHR and FCP groups, respectively (p = 0.999). Other complications were similar between both groups. Conclusions: The postoperative outcomes of FHR and FCP are similar in terms of telescoping, heterotopic ossification, and complications. Although telescoping was encountered more in the FCP group, no significant difference from the FHR group was found. We noted that the weight of traction could reduce the development of telescoping.

Early versus delayed hip reduction in the surgical treatment of femoral head fracture combined with posterior hip dislocation: a comparative study

Background Few studies focus on the treatment of femoral head fracture combined with posterior hip dislocation, and the safe interval time between injury and hip reduction remains controversial. The purpose of this study was to evaluate and compare the outcome of early and delayed hip reduction in the surgical treatment of femoral head fracture combined with posterior hip dislocation. Methods A total of 71 patients were evaluated in this retrospective study. Based on the time to hip reduction, they were divided into early group (within 6 h after injury) and delayed group (between 6 and 12 h after injury). The two groups were compared in reference to hospital day, fracture healing time, the occurrence of complications and final functional outcome. The Thompson-Epstein criteria, modified Merle D’Aubigné and Postel scores, visual analog scale (VAS) and Medical Outcomes Short Form 12-item questionnaire score (SF-12) were used for final functional evaluation. Results The mean hospital stay and fracture healing time in the early group were significantly lower than those in the delayed group. The incidence of infection, post-traumatic osteoarthritis, and avascular necrosis of the femoral head (ANFH) in the delayed group were higher than that in the early group. The early group had better functional outcomes in terms of Thompson-Epstein criteria, modified Merle D’Aubigné and Postel scores and physical component scale (PCS) than the delayed group. Conclusions For the treatment of femoral head fracture combined with posterior hip dislocation, the early and prompt hip reduction can effectively facilitate the fracture healing and patient rehabilitation, and obtain a better functional outcome.