Long Bone Deformities Research Articles

Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1

COL1A1 haploinsufficiency mutations lead to the mildest form of osteogenesis imperfecta (OI), OI type I. The skeletal clinical characteristics resulting from such mutations have not been characterized in detail. In this study we assessed 86 patients (36 male, 50 female; mean age 13.3 years; range, 0.6 to 54 years) with COL1A1 haploinsufficiency mutations, of whom 70 were aged 21 years or less ("pediatric" patients). Birth history was positive for fracture or long-bone deformity in 12% of patients. The average rate of long-bone fracture (femur, tibia/fibula, humerus, radius/ulna) in pediatric patients was 0.62 fractures per year, one-half of which affected the tibia/fibula. Long-bone fracture rate was negatively associated with age and lumbar spine areal bone mineral density. Vertebral compression fractures were observed in 71% of the 58 pediatric patients who had lateral spine radiographs. The median number of vertebral fractures was higher for females (median 4; range, 0 to 14) than for males (median 1; range, 0 to 8) (p = 0.03). Lumbar spine areal bone mineral density was negatively associated with the severity of vertebral compression fractures, as reflected in the spine deformity index. Scoliosis was present in about 30% of pediatric patients but the Cobb angle was <30 degrees in all cases. The average final height Z-score was -1.1, representing a deficit of 8 to 10 cm compared to the general population. In summary, OI patients with COL1A1 haploinsufficiency mutations have high rates of significant skeletal involvement. Systematic follow-up of growing patients with COL1A1 haploinsufficiency mutations including radiographic screening for vertebral compression fractures and scoliosis is warranted.

Патологічна ламкість кісток: медикаментозна корекція стану кісткової тканини та хірургічна корекція деформацій кісток

У статті поданий сучасний підхід до тактики лікування хворих на ортопедичну патологію при недосконалому остеогенезі, описаний перспективний напрямок медикаментозної корекції стану кісткової тканини та хірургічного лікування патологічних переломів і осьових деформацій довгих кісток. Авторами проведений аналіз результатів лікування 22 пацієнтів із недосконалим остеогенезом із використанням нової тактики, що включала застосування патогенетично обґрунтованої антиостеопоротичної терапії та «ростучих» телескопічних інтрамедулярних конструкцій; чітко встановлена та об’єктивно доведена ефективність та перспективність описаної методики як із лікувальних, так і з профілактичних позицій.

Blocking Screw-assisted Intramedullary Nailing Using the Reverse-rule-of-thumbs for Limb Lengthening and Deformity Correction.

ABSTRACTIntroductionHistorically, blocking screws have been used to assist in acute reduction of fractures during intramedullary (IM) nailing. The reverse-rule-of-thumbs (RROT) for blocking screws was introduced to facilitate internal lengthening nail use in deformity correction and limb lengthening. Our study investigated the ability of blocking screws, using same principle, to accurately correct long-bone deformity with and without lengthening and to prevent lengthening-induced deformity.Materials and methodsThis is an institutional review board (IRB)-approved retrospective study on 86 patients who had IM nail-assisted limb reconstruction of femur or tibia with blocking screws. Surgeries were performed for deformity correction, limb lengthening, or deformity correction and limb lengthening. Data on the following variables were collected: number of blocking screws, distance of each blocking screw to osteotomy, distance of osteotomy from joint line, and amount of lengthening. Mechanical axis deviation (MAD) and joint alignment parameters were measured preoperatively and at the final postoperative follow-up. The primary outcome was the ability to obtain desired MAD and joint orientation angles. Accuracies were reported as postoperative measurements relative to goal. Association for the Study and Applications of the Methods of Ilizarov (ASAMI) scores were collected.ResultsThe accuracy of deformity correction was within 6 mm from goal, while joint orientation was corrected to within 1.5° of goal. Number of blocking screws did not significantly impact accuracy. Distance of blocking screw to osteotomy and amount of lengthening did not affect accuracy. In femurs, osteotomies greater than 10 cm from the joint line were more accurate in MAD goal (p = 0.017). This result was not replicated in tibias. ASAMI scores were excellent or good.ConclusionUsing RROT configuration, blocking screws were effective in correcting deformities of lower extremity long bones and in preventing deformity during limb lengthening. If positioned correctly, number of screws and their distance to osteotomy did not affect accuracy. Amount of lengthening did not impact accuracy. Distal femoral osteotomy less than 10 cm from knee joint may be challenging even with using blocking screws.How to cite this articleDabash S, Zhang DT, Rozbruch SR, et al. Blocking Screw-assisted Intramedullary Nailing Using the Reverse-rule-of-thumbs for Limb Lengthening and Deformity Correction. Strategies Trauma Limb Reconstr 2019;14(2):77–84.

Computer-assisted and patient-specific 3-D planning and evaluation of a single-cut rotational osteotomy for complex long-bone deformities

Malunion after long bone fracture results in an incorrect position of the distal bone segment. This misalignment may lead to reduced function of the limb, early osteoarthritis and chronic pain. An established treatment option is a corrective osteotomy. For complex malunions, a single-cut rotational osteotomy is sometimes preferred in cases of angular deformity in three dimensions. However, planning and performing this type of osteotomy is relatively complex. This report describes a computer-assisted method for 3-D planning and realizing a single-cut rotational osteotomy with a patient-specific cutting guide for orienting the osteotomy and an angled jig for adjusting the rotation angle. The accuracy and reproducibility of the method is evaluated experimentally using plastic bones. In addition, complex rotational deformities are simulated by a computer to investigate the relation between deformity and correction parameters. The computed relation between deformity and correction parameters enables the surgeon to judge the feasibility of a single-cut rotational osteotomy. This appears possible for deformities combining axial misalignment with sufficient axial rotation. The proposed 3-D method of preoperative planning and transfer with a patient-specific cutting guide and angled jig renders the osteotomy procedure easily applicable, accurate, reproducible, and is a good alternative for complex and expensive navigation systems.

Diagnostic value of three-dimensional ultrasonography to fetal limb skeletal dysplasia

Objective To explore the diagnostic value of three-dimensional ultrasonography to fetal limb skeletal dysplasia. Methods From December 2005 to December 2009, the fetus with pregnancy of 14 to 40 weeks after routine ultrasound screening were given two dimensional prenatal ultrasound screening, and we found fetal limb skeletal growth abnormalities retained images, meanwhile we used three-dimensional ultrasound surface imaging mode and transparent imaging mode techniques, the location and types of malformations observed by these two kinds of methods were compared. Results Among the 38 974 cases, 70 cases of abnormalities detected by two-dimensional method, while 78 ones detected by three-dimensional ultrasound method, during postpartum follow-up study, 14 cases of miss diagnosis were found, including 4 cases of polydactylism, 2 cases of polydactyly, 2 cases of toe absence, 4 cases of syndactyly, and 2 cases of abnormal finger posture; while in those with three-dimensional ultrasound method, there were only 6 cases found as miss diagnosis, including polydactylism, polydactyly and syndactyly,2 cases for each. The detectable rate for fetal limb deformities of three-dimensional ultrasound was significantly higher than that of two-dimensional ultrasound method. The methods were mainly used to increase diagnostic accuracy for fetal fingers and toes deformities.Conclusions There is no obvious difference in fetal long bone deformity diagnosis between the methods of two-dimensional and three-dimensional ultrasound, but in the fetal fingers, toes and other details, the results of the three-dimensional ultrasound diagnosis is better than that of two-dimensional one. The three-dimensionul ultrasound diagnosis image is intuitive which provides convenience for communicating with pregnant women. Key words: Real-time three-dimensional uhrasonography; Fetus; The fetal four limbs growth malformations; Diagnosis

The effects of different levels of dietary biotin on the performances and on bone growth in the broiler

Biotin deficiency in the broilers' diet causes reduction of growth rate and food conversion, clinically the appearance of cutaneous lesions that are particularly severe around the beak and in the plantar regions, and long bone deformities (Anderson and Warnich, 1970; Riddel, 1981; Bain et al., 1989). It has been demonstrated that 21-day old chicks fed biotin deficient diets showed thickening of the tibiotarsus cortex. (Watkins et al., 1989). In order to avoid nutritional disorders and to ensure the “optimal” dosage, broiler biotin requirements are still undefined. Biotin is found in both animal and vegetal tissues in small quantities and in variable amounts; this is due to intrinsic factors in the feed (biotin binding protein) and to extrinsic factors like technologic processing, that limit biotin availability...

A robotic hexapod external fixator for the correction of angular deformity of long bones

A robotic hexapod external fixator for the correction of angular deformity of long bones

Computer-aided methods for assessing lower limb deformities in orthopaedic surgery planning

Accurate, simple, and quick measurement of anatomical deformities at preoperative stage is clinically important for decision making in surgery planning. The deformities include excessive torsional, angular, and curvature deformation. This paper presents computer-aided methods for automatically measuring anatomical deformities of long bones of the lower limb. A three-dimensional bone model reconstructed from CT scan data of the patient is used as input. Anatomical landmarks on femur and tibia bone models are automatically identified using geometric algorithms. Medial axes of femur and tibia bones, and anatomical landmarks are used to generate functional and reference axes. These methods have been implemented in a software program and tested on a set of CT scan data. Overall, the performance of the computerized methodology was better or similar to the manual method and its results were reproducible.

Growth modulation in the management of growing spine deformities.

The Hueter-Volkmann law explains the physiological response of the growth plate under mechanical loading. This law mainly explains the pathological mechanism for growing long-bone deformities. Vertebral endplates also show a similar response under mechanical loading. Experimental studies have provided information about spinal growth modulation and, now, it is possible to explain the mechanism of the curvature progression. Convex growth arrest is shown to successfully treat deformities of the growing spine and unnecessary growth arrest of the whole spine is prevented. Both anterior and posterior parts of the convexity should be addressed to achieve a satisfactory improvement in the deformity, albeit epiphysiodesis effect cannot be stipulated at all times. Anterior vertebral body stapling without fusion yielded better results with new shape memory alloys and techniques. This method can be used with minimally invasive techniques and has the potential advantage of producing reversible physeal arrest. Instrumented posterior hemiepiphysiodesis seems to be as effective as classical combined anterior and posterior arthrodesis, where it is less invasive and morbid. Convex hemiepiphysiodesis with concave-side distraction through growing rod techniques provide a better control of the curve immediately after surgery. This method has the advantages of posterior instrumented hemiepiphysiodesis, but necessitates additional surgeries. Concave-side rib shortening and/or convex-side lengthening is an experimental method with an indirect effect on spinal growth. To conclude, whatever the cause of the spinal deformity, growth modulation can be used to manage the growing spine deformities with no or shorter segment fusions.

The accuracy and precision of computer assisted surgery in the assessment of frontal plane deviations of the lower extremity: a femoral fracture model

Mechanical axis deviation of the lower extremity as a result of malreduction or malunion of fractures plays an important role in the development of arthritis. Therefore it is crucial to restore the limb alignment as accurate as possible. The purpose of this study was to evaluate the accuracy and precision of navigation in assessing isolated frontal plane (varus/valgus) deviations of the lower limb in a simulated fracture model of the femur. Three fracture models with ten specimens in each were created in femoral synthetic composite bones to simulate a subtrochanteric (AO/OTA 31-A1), mid-diaphyseal (AO/OTA 32-A3), and supracondylar (AO/OTA 33-A1) femur fracture. Each specimen was mounted on a custom holding device and registered with the navigation system. Eight custom-made aluminum wedges of varying angles (5 degrees -26 degrees ) were used to create varus/valgus angulations at the fracture site. After wedge placement, the frontal plane deformity was recorded and registered by the navigation system. The means and standard deviations for each navigated wedge angle were calculated and compared to the actual wedge angle using a one sample t test. A single factor ANOVA test was subsequently performed to see if the differences between the navigated mean angles in each fracture group were statistically significant. The level of significance was defined as P < 0.05. None of the navigated mean angles were found to be significantly different from the actual wedge angles (P = 0.05-1.00). More specifically, the differences between the navigated mean angles and the actual wedge angles ranged from 0 degrees to 0.7 degrees . Furthermore, the differences between the navigated mean angles in each angle group were found to be statistically insignificant (P = 0.53-0.99). The high accuracy and precision of navigation systems in determining frontal plane deformities of long bones can make them an invaluable tool for the exact reduction and realignment of lower extremity fractures.

Three-Dimensional Corrective Osteotomy of Malunited Fractures of the Upper Extremity with Use of a Computer Simulation System

Three-dimensional anatomical correction is desirable for the treatment of a long-bone deformity of the upper extremity. We developed an original system, including a three-dimensional computer simulation program and a custom-made surgical device designed on the basis of simulation, to achieve accurate results. In this study, we investigated the clinical application of this system using a corrective osteotomy of malunited fractures of the upper extremity. Twenty-two patients with a long-bone deformity of the upper extremity (four with a cubitus varus deformity, ten with a malunited forearm fracture, and eight with a malunited distal radial fracture) participated in this study. Three-dimensional computer models of the affected and contralateral, normal bones were constructed with use of data from computed tomography, and a deformity correction was simulated. A custom-made osteotomy template was designed and manufactured to reproduce the preoperative simulation during the actual surgery. When we performed the surgery, we placed the template on the bone surface, cut the bone through a slit on the template, and corrected the deformity as preoperatively simulated; this was followed by internal fixation. All patients underwent radiographic and clinical evaluations before surgery and at the time of the most recent follow-up. A corrective osteotomy was achieved as simulated in all patients. Osseous union occurred in all patients within six months. Regarding cubitus varus deformity, the humerus-elbow-wrist angle and the anterior tilt of the distal part of the humerus were an average of 2 degrees and 28 degrees, respectively, after surgery. Radiographically, the preoperative angular deformities were nearly nonexistent after surgery. All radiographic parameters for malunited distal radial fractures were normalized. The range of forearm rotation in patients with forearm malunion and the range of wrist flexion-extension in patients with a malunited distal radial fracture improved after surgery. Corrective osteotomy for a malunited fracture of the upper extremity with use of computer simulation and a custom-designed osteotomy template can accurately correct the deformity and improve the clinical outcome.

A osteotomia em um plano oblíquo por corte único para correção de deformidades complexas diafisárias de ossos longos: um método para sua realização

A correção das deformidades complexas, aquelas simultaneamente com desvios angular e torcional, é possível por osteogênese e por osteotomias. O presente estudo foi realizado para desenvolver e aplicar um método para a técnica da osteotomia em um plano oblíquo por um único corte, para a correção de deformidades diafisárias complexas em ossos longos (fêmur ou tíbia) e verificar a sua aplicabilidade. MÉTODOS: Este estudo prospectivo envolveu 10 pacientes de ambos os sexos, com idades, entre 17 e 62 anos, que apresentavam deformidades complexas de ossos longos (quatro no fêmur e seis na tíbia) tratados cirurgicamente com osteotomia corretiva pela técnica de corte único em um plano oblíquo. Os pacientes foram avaliados comparativamente no pré e pós-operatório, para a mensuração das deformidades angulares verdadeiras através do método gráfico, a partir de medições nas radiografias do osso deformado, e clinicalmente para deformidade torcional e do comprimento. Também foram observados o tempo de consolidação e as complicações. O planejamento pré-operatório determinou o cálculo do ângulo do corte do osso. Foram confeccionados para cada paciente um modelo artificial em plástico do osso deformado e nele simulada a correção. Foram realizados desenhos do osso com anotação dos principais passos cirúrgicos e a escolha do local e do tamanho do material de síntese. O planejamento pré-operatório orientou a cirurgia. No pré-operatório, os pacientes apresentavam deformidades com valores médios de: deformidade angular verdadeira de 19º; torção de 12º; encurtamento de 1,3cm. RESULTADOS: Após correção, as medidas mostraram um valor médio de: deformidade angular verdadeira de 4º (p = 0,005); torção de 1º (p = 0,005) e encurtamento de 0,6cm (p = 0,027). Três pacientes apresentaram complicações, sendo dois com retarde de consolidação e outro com infecção profunda tardia e retarde de consolidação. CONCLUSÃO: O presente estudo mostrou ser possível estabelecer um método confiável e reprodutível para a técnica da osteotomia em plano oblíquo por corte único para a correção de deformidades diafisárias complexas de ossos longos.

Treatment of children with osteogenesis imperfecta

Children with moderate to severe forms of osteogenesis imperfecta (OI) require adequate physiotherapy, rehabilitation and orthopedic surgery. Supportive treatment with bisphosphonates can improve the effects of these nonmedicinal treatment modalities. Benefits of bisphosphonate treatment include decreased pain, lower fracture incidence, and better mobility. Among the various bisphosphonates, intravenous pamidronate has been studied in most detail. However, the optimal treatment regimen and the long-term consequences of pamidronate treatment in children are currently unknown. Given these uncertainties, treatment with bisphosphonates during growth should be reserved for patients who have significant clinical problems, such as vertebral compression fractures or long-bone deformities. Medical therapies other than bisphosphonates play a minor role at present. Gene-based therapy currently remains in the realm of preclinical research.

Surgical Manifestations of Pagetʼs Disease

Paget's disease is a chronic, nonmetabolic bone disorder characterized by increased bone resorption, bone formation, and remodeling. This unbalanced process may lead to osseous deformities, structural weakness, and altered joint biomechanics, all of which can make surgical reconstruction difficult. Although few patients with Paget's disease require surgical treatment, successful surgical management of severe orthopaedic complications has improved the quality of life for these patients. Surgical options include osteotomy to correct long-bone deformity and arthroplasty to restore altered joint mechanics. Patients are at increased risk for surgical complications, such as blood loss and heterotopic bone formation. Issues relating to the surgical management of patients with Paget's disease include appropriate preoperative diagnosis, technical challenges of surgery, and strategies to improve the long-term outcome of surgical intervention.

Focal fibrocartilaginous dysplasia of the distal radius

Focal fibrocartilaginous dysplasia (FFCD) is an uncommon benign condition that causes deformity of long bones in young children. We present a unique case of FFCD in the distal radius. So far, only two other cases are described in literature. An 11-year-old girl presented with a right forearm deformity without history of injury. The radiographs showed the typical features of a FFCD of the distal radius and MRI demonstrated a fibrous tether. After a 1-year follow-up the patient underwent surgery with resection of the FFCD, excision of the fibrous tether and osteotomy of the dorsal part of the distal radius. The diagnosis of FFCD is primarily based on characteristic plain film findings even though MRI may provide additional information, e.g. demonstration of fibrous tether, which seems to be a main causative factor in the development of FFCD related complications. Treatment for FFCD depends mainly on the clinical picture assessing the patient's symptoms and the presence or lack of complications.

A new methodology for the planning of single-cut corrective osteotomies of mal-aligned long bones

Background. Corrections of combined torsional and angular deformities of long bones may be performed creating a single osteotomy which is oriented so that rotating the two fragments on the created osteotomy plane allows to correct all deformities in one step. A practical geometrical tool is presented to facilitate the difficult preoperative planning of such osteotomies. Methods. The geometrical tool consists of two limbs connected by a mobile disk representing the osteotomy plane. This allows the two limbs to be deliberately bent and rotated against each other. Thereby, the mobile disk will change orientation in such a way that it will indicate the osteotomy plane needed in order to anatomically align the two limbs. The geometrical principle of the tool has been confirmed mathematically and compared with data from the literature. Five deformed test bones have been used to test the effectiveness of the tool. Findings. The geometrical principle of the tool is equivalent with the mathematical data from the literature. The maximal osteotomy angle which can be indicated by the tool is 65°, with an error of ±3° compared to mathematically calculated values. The five test bones were all aligned anatomically with appropriate accuracy. Interpretation. The presented tool can be easily used and facilitates largely the preoperative planning of a single cut osteotomy for complex deformities of long bones. It allows to avoid sophisticated mathematical calculations and helps to avoid the risk for errors in planning and performing correctional osteotomies.

Biomechanical considerations of animal models used in tissue engineering of bone

Tissue engineering combines the aspects of cell biology, engineering, material science, and surgery to generate new functional tissue, and provides an important approach to the repair of segmental defects and in restoring biomechanical function. The development of tissue-engineering strategies into clinical therapeutic protocols requires extensive, preclinical experimentation in appropriate animal models. The ultimate success of any treatment strategy must be established in these animal models before clinical application. It is clear that the demands of the biological and mechanical environment in the clinical repair of critical size defects with tissue-engineered materials is significantly different from those existing in experimental animals. The major considerations facing any tissue-engineering testing logic include the choice of the defect, the animal, the age of the animal, the anatomic site, the size of the lesion, and most importantly, the micro-mechanical environment. With respect to biomechanical considerations when selecting animals for tissue- engineering of bone, it is evident that no common criteria have been reported. While in smaller animals due to size constraint only structural properties of whole bones can be measured, in larger animals and humans both material properties and structural properties are of interest. Based on reported results, comparison between the tissue-engineered bone across species may be of importance in establishing better model selection criteria. It has already been found that the deformation of long bones is fairly constant across species, and that stress levels during gait are dependent on the weight of the animal and the material properties of the bone tissue. Future research should therefore be geared towards developing better biomechanical testing systems and then finding the right animal model for the existing equipment.

Corrective osteotomy for deformity in Paget disease.

Severe deformity resulting from Paget disease is not uncommon. Malalignment of the extremity may lead to intractable pain, mechanical overload of the neighboring joints, limitation of motion and function, and dysmorphic appearance. Although corrective osteotomy has been used to treat osseous deformities, the outcome of corrective osteotomy for long-bone deformities resulting from Paget disease remains largely unknown. The results after twenty-five corrective osteotomies (twenty-two patients), performed between 1975 and 1995, in sixteen tibiae, eight femora, and one radius were evaluated. There were thirteen men and nine women with a mean age of sixty-seven years. The indication for osteotomy was pain in twenty limbs, recurrent stress fractures in three, and limitation of function in two. A variety of osteotomies and fixation methods were used. Two patients underwent simultaneous total hip arthroplasty and proximal femoral osteotomy. Twenty-three of twenty-five osteotomies healed with an average time to union of six months. Both nonunions were in patients who had been managed with intramedullary fixation. The time to union was significantly shorter in metaphyseal osteotomies fixed with plates than in diaphyseal osteotomies (p < 0.04). There was a substantial improvement in the deformities. Satisfaction was rated excellent or good by fourteen patients, fair by six, and poor by two. Complications included a pin-track infection in two patients, peroneal nerve palsy in one, and loss of fixation following external fixation in one. Disease activity, as measured by serum alkaline phosphatase level, and medical treatment with calcitonin and/or bisphosphonates did not have a significant impact on time to union. Corrective osteotomy for the treatment of severe deformity in Paget disease can be challenging and yet rewarding. A higher prevalence of complications was observed following intramedullary nailing and external fixation. Fracture-healing seems to be particularly protracted in diaphyseal osteotomies.

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.

Idiopathic hyperphosphatasia is an autosomal recessive bone disease characterized by deformities of long bones, kyphosis and acetabular protrusion, increasing in severity as affected children pass through adolescence. Biochemical and histological evidence indicate that there is extremely rapid bone turnover, with indices of both bone resorption and formation greatly increased. A genome-wide search, in a family with three children affected by idiopathic hyperphosphatasia, suggested linkage to a locus on the long arm of chromosome 8 (8q24). The gene TNFRSF11B encoding osteoprotegerin (OPG), which lies within this locus, was an obvious candidate, given the critical role of OPG in regulating osteoclast development. All three affected siblings were homozygous for a 3 bp inframe deletion in exon 3 of the TNFRSF11B gene, resulting in the loss of an aspartate residue. Their parents (who were first cousins) were heterozygous for the mutation. Recombinant wild-type and mutant OPG cDNAs were expressed in human epithelial kidney cells, and secreted OPG was collected from the conditioned medium. In vitro measurements of bone resorption showed that wild-type OPG suppressed bone resorption, whereas the mutant form did not, confirming this to be an inactivating mutation. This description of abnormal OPG function in humans expands the spectrum of genetic bone diseases arising from perturbations of the OPG/RANK-L/RANK system that regulates osteoclastogenesis.

長管骨変形に対するoblique wedge osteotomyの経験

長管骨変形に対するoblique wedge osteotomyの経験