Ilizarov Principles Research Articles

The Ilizarov Technique: A Dynamic Solution for Orthopaedic Challenges.

The Ilizarov technique is one of the most important tools that is currently employed in bone reconstruction surgeries. Its inception dates back to the mid-20th century and involves various bone reconstruction methodologies implemented using a circular external fixator system devised by G. A. Ilizarov. The key advantages of this approach include the generation of viable new bone via distraction osteogenesis, high union rates, and the functional utilization of the limb during the treatment process. The exploration of distraction osteogenesis phenomenon triggered by tensile stress with the Ilizarov device served as a catalyst for progress in bone reconstruction surgery. Subsequently, the original technique has been utilized alongside several adaptations resulting from the introduction of novel fixation tools and methods of their application, such as hexapod external fixators and motorized intramedullary lengthening nails. It is crucial to possess a precise comprehension of the Ilizarov principles of deformity correction in order to effectively utilize this fixation system. In this article, we will discuss the history of Ilizarov frame, the basic sciences behind it, the mechanical principles governing its use, and the clinical application of the fixation system in our daily practice.

Treatment of Congenital Pseudarthrosis Tibia by Ilizarov Principle

Treatment of Congenital Pseudarthrosis Tibia by Ilizarov Principle

The treatment of a malunited posterior pilon fracture with talar dislocation: A staged surgical treatment protocol

BackgroundMalunited posterior pilon fractures with talus dislocation (mPPFtd) are rare and there are no appropriate treatment strategies. The purpose of this study was to introduce a stepped strategy featuring preliminary soft tissue management according to the Ilizarov principle and delayed open reduction and internal fixation (ORIF) through a modified posteromedial approach to overcome rigid soft tissue contracture. MethodFrom February 2015 to August 2021, 12 selected patients with mPPFtd who were treated with the staged protocol (Group A) were retrospectively analysed. The clinical and radiographic outcomes were evaluated using the American Orthopaedic Foot and Ankle Society (AOFAS) ankle-hindfoot score, the visual analogue scale (VAS) score, and the Burwell-Charnley score. Moreover, this case series was compared with some cases of fresh fracture (Group B) in patients that had the same baseline data from our previous study. ResultsIn Group A, the average length of time between the date of injury and the date of surgery was 4.8 ± 3.3 months. The average time to external fixator distraction, as the first-stage treatment, was 13.4 ± 1.0 days. In the second stage of ORIF, the posterosuperior dislocation of the talus was corrected with osteotomy and leverage manoeuvres. According to the Burwell-Charnley score system, the reduction quality was excellent in 9 cases and good in 3 cases. After a mean follow-up of 3.8 ± 2.1 years, there were no infections, wound healing problems, or nerve injuries in our cohort, and union was observed in all fractures without a loss of reduction. The baseline data of the two groups were not significantly different (p>0.05). The mean AOFAS score in Group A was 85.0 ± 10.5 and that in Group B was 95.4 ± 6.1 (p<0.05). The mean VAS score in Group A was 1.7 ± 1.4 and that in Group B was 0.7 ± 0.9 (p<0.05). ConclusionA staged surgical treatment strategy characterized by soft tissue management will improve the treatment of mPPFtd and produce satisfactory clinical outcomes. Level of evidenceLevel IV, retrospective case series

A staged procedure for the treatment of chronic patellar tendon ruptures after total knee arthroplasty.

The management of extensor mechanism lesions after total knee replacement is still associated with an unacceptably high complication rate, especially in its chronic setting. In this study, we report on 4 patients with chronic (>3 months) patellar tendon rupture after knee arthroplasty, who were treated with a novel procedure of staged patella advancement prior to reconstruction with autografts. Initially, a unilateral frame was applied connecting the patella with the tibial shaft. The construct allowed for gradual distal advancement of the patella based on the Ilizarov principles. After achieving the desired patella height, the frame was removed, and the patellar tendon was reconstructed with hamstrings. All four patients experienced a significant improvement in extensor lag by a mean of 38.0°, while Knee society scores increased by a mean of 38.5 units. No substantial loss in active knee flexion was observed. Our findings suggest that our technique yields favorable outcomes in patients with patellar tendon disruption in the setting of a total knee arthroplasty.

Neglected infected floating knee injury: evaluation of closed reduction techniques.

Floating knee injury is uncommon yet challenging problem. The situation is more complicated by presence of infection, open comminuted fractures, and late presentation. The aim of this study was to evaluate the closed reduction techniques by circular external fixation in a single stage to treat patients having infected neglected floating knee injuries. This retrospective study included 19 patients with a mean age of 34.4years. The average duration from trauma to surgery was 51.1days. All patients had at least one infected open fracture. According to Fraser's classification, ten injuries were type I, one case was type IIa, four were type IIb, and four were type IIc. Patients were treated by closed reduction techniques using the Ilizarov principles. Orthoplastic procedures were done in four cases in the same surgical setting. Closed reduction and union were achieved in all cases with control of infection in 17 cases. The follow-up period averaged 41months. The mean knee flexion was 97.4°. The complications included 5° extension lag (two cases), malunion (three cases), refracture (two cases), and DVT (four cases). The bone results were excellent (12 cases), good (5 cases), and poor (2 cases). The functional results were excellent (two cases), good (seven cases), acceptable (seven cases), and poor (three cases). Closed reduction techniques using a circular frame provided a valid treatment option for infected neglected floating knee injuries in one stage without bone grafting. However, the high rate of complications and the diminished knee range of motion should be considered.

English

BACKGROUND Open fractures and fractures caused by high-energy trauma are likely to get infected and result in non-union. Infected non-union of long bones is a problem in developing countries like India. Ilizarov external fixator was employed to correct all the complications associated with non-union such as bone gap, infection, shortening, and deformities. Stable fixation, corticotomy and bone transport was employed to reduce or eliminate infection at the same time achieving bone union and correction of limb length discrepancy. Our study assesses the efficacy and safety of Ilizarov external fixation in patients with infected non-union tibial fractures. METHODS A series of 30 patients with infected non-union of tibia were treated with Ilizarov external fixation in Yashoda super speciality hospital and regularly followed-up between May 2014 and April 2016 (2 years). Bony and functional results were estimated and correlated with existing studies. RESULTS Out of thirty patients treated, bony results were excellent in 17 patients, good in 8 patients, fair in 4 patients and poor in 1 patient. Functional results were excellent in 17 patients, good in 5 patients, fair in 5 patients, and poor in 3 patients. Average duration of the fixator period was 8.1 months (min - 3 months, max - 14 months). Average length of regenerate was 3.64 cm (min - 2 cm, max - 6 cm). Average lengthening index in the study was 2.09 months / cm. Our study in all 4 categories of Association for the Study and Application of Methods of Ilizarov (ASAMI) criteria had approached Dror Paley’s Bony results and functional results. CONCLUSIONS In our study results have been encouraging in addressing all the complex problems by Ilizarov principle. Ilizarov external fixator system is the best device to treat infected non-union of tibia. Distal third of tibia is more prone for infection and non-union. Corticotomy or bone grafting is required for augmentation of the healing process. Almost all patients had varying degrees of oedema and pin track infections. Infection was controlled in all the cases and bony union was achieved, no patient had persistence of non-union and infection at the end of 2 years. KEYWORDS Ilizarov External Ring Fixator, Infected Non-Union, ASAMI Criteria, Bony Results, Functional Results, Bony Union

Management of infected nonunions of the femur and tibia with compression-distraction osteogenesis coupled with modern methods at a tertiary military establishment: a prospective case series

Background: Infected nonunions pose a daunting challenge to any orthopaedic surgeon. The essence of treatment is a radical debridement for eradication of infection coupled with various approaches to address the bone gap. Bone transport and acute docking along with a corticotomy and distraction osteogenesis have stood the test of time. Our purpose was to evaluate the treatment outcome of the modified Ilizarov technique in infected nonunions of the femur and tibia. Methods: Twenty-six patients with infected femoral and tibial nonunions underwent aggressive debridement and either bifocal compression-distraction osteogenesis or bone transport using an Ilizarov frame. Adjuvant methods such as local antibiotic delivery systems, bone marrow aspirate concentrate (BMAC) injections, pulsatile recombinant parathyroid hormone (PTH) injections, and negative pressure wound therapy (NPWT) were deployed, as deemed necessary, in specific situations. Results: The mean follow-up period was 24.2 mo. The mean time to union was 267.7 days. Union was achieved in 25 cases with complete eradication of infection. Bone results as per the Association for Study of Application of Methods of Ilizarov (ASAMI) scoring system were excellent in 19 patients, good in four, fair in two, and poor in one. The average duration for external fixation was 8.9 mo. Complications occurred in 30.8% of patients. Conclusions: The Ilizarov method, by itself or in combination with modern methods, gives satisfactory bone and functional results. Complication rates depend upon the surgeon’s adherence to the cardinal principles of Ilizarov. Level of Evidence: Level IV.

Mid-term walking ability after Charcot foot reconstruction using the Ilizarov ring fixator.

Failed conservative treatment and complications are indications for foot reconstruction in Charcot arthropathy. External fixation using the Ilizarov principles offers a one-stage procedure for deformity correction and resection of osteomyelitic bone. The aim of this study was to determine whether external fixation with an Ilizarov ring fixator leads reliably to walking ability. 29 patients treated with an Ilizarov ring fixator for Charcot arthropathy were retrospectively analyzed. Radiologic fusion at final follow up was assessed separately on conventional X-rays by two authors. The association between walking ability and the presence of osteomyelitis at the time of reconstruction, and the presence of fusion at final follow up was investigated using Fisher's exact test. Mean follow up was 35months (range 5.3-107) months; mean time of external fixation was 113days. Ten patients (34.5%) reached fusion, but 19 did not (65.5%). Two patients needed below knee amputation. 26 of the remaining 27 patients maintained walking ability, 23 of those without assistive devices. Walking ability was independent from the presence of osteomyelitis at the time of reconstruction and from the presence of fusion. Foot reconstruction with an Ilizarov ring fixator led to limb salvage in 93%. The vast majority (96.3%) of patients with successful limb salvage was ambulatory, independent from radiologic fusion, and presence of osteomyelitis at the time of reconstruction. These findings encourage limb salvage and deformity correction in this difficult-to-treat disease, even with underlying osteomyelitis.

Acute ulnar osteotomy versus gradual distraction by external fixator to correct missed monteggia type 1 fracture-dislocation; A comparative study

Background: Monteggia fracture-dislocations are complex injuries. These injuries, especially neglected ones, remain a challenge for orthopedic surgeons. The aim of this study is to compare the results of acute and gradual ulnar lengthening osteotomies in treating chronic Monteggia fractures in children. Patients and Methods: The study includes two groups of patients, treated at our institution in the period from April 2014 to September 2018. The first group (Group A) included nine patients who were treated by an overcorrective ulnar osteotomy with acute lengthening with bone grafting. The second group (B) includes 11 children who were treated by Ilizarov distraction osteogenesis for differential lengthening of forearm bones. There were 14 boys and 6 girls. The left elbow was involved in five patients and the right elbow 15 patients. All fractures were classified as Bado type I with anterior radial head dislocation. The average age at the time of surgery was 7 years and 4 months. Results: The mean interval from the injury to surgical interference was 8.6 months. There was a significant improvement of the elbow range of motion and Mayo elbow performance score. In group B, the mean external fixation time was 9.7 weeks (range from 9 to 15 weeks). The mean total treatment time was 12.3 weeks (ranged from 12 to 16 weeks). Superficial pin-tract infection occurred in all cases and was managed without further sequelae. Conclusions: Both approaches yielded equally good results. The open surgery approach entails a more invasive procedure, but more convenient to the patient and no arduous postoperative follow-up is needed. On the contrary, differential lengthening of forearm bones is a percutaneous procedure with the application of Ilizarov principles in a controlled biological manner; with no graft materials needed. Both techniques effectively reduced the radial head.

Ilizarov strategies in the management of nonunions and difficult fractures of the femur

Introduction: Infected nonunion, neglected open fractures, aseptic nonunion, and neglected displaced comminuted fractures are difficult fractures of femur requiring tailored management. We used Ilizarov principles and strategies in such difficult presentations and the aim to evaluate results. Materials and Methods: Thirty-eight patients (37 males and 1 female), 3–48 years old, with infected nonunion (11 cases), neglected open fractures (12 cases), aseptic nonunions (9 cases), and neglected displaced comminuted fractures (6 cases) treated during 2000–2015 were evaluated. Cases of infected nonunion were subclassified using Rosens's classification to guide debridement and underwent single-stage monofocal or bifocal treatment. Neglected open fractures were Type 3 open fractures (Gustillo Anderson) after ≥12 h of injury-underwent debridement and single-stage monofocal or bifocal treatments. Aseptic nonunion cases underwent implant removal and monofocal or bifocal treatment. Neglected displaced comminuted fractures were fixed in situ, monofocal treatment, length, and rotation correction was done. Accordion maneuver was used extensively. No bone grafting was done. Results: Thirty-six cases (95%) achieved successful union and 97% cases had infection eradication. Excellent-to-good bony and functional results were seen in 86% and 68% cases, respectively (ASAMI criteria). Complications such as soft-tissue interposition (5%), Grade III pin-tract infection (13%), and hyporegenerate (11%) were seen. Discussion and Conclusion: With Ilizarov strategies tailored for specific situation, satisfactory and predictable results can be obtained offering one-stage solution to the global problems associated with such difficult fractures. The technique obviates need for bone graft or major soft tissue reconstruction.

One-step Management of Severely Deformed, Long-Neglected Club Feet

Category: Other Introduction/Purpose: Early management of the club foot using the Ponsetti technique has almost eliminated severe residual deformities from this problem. Unfortunately, in remote regions of the world patients may not have been afforded the benefits of this technique. The consequences are severely deformed, long-neglected foot deformities. Interventions to mitigate this problem have included talectomies, osteotomies, tendon transfers, gradual corrections using Ilizarov principles and as a last resort, transtibial amputations. All have undesirable features such as inadequate corrections with residual deformities, need for additional surgeries, intensive post-operative management and/or need for custom orthotics or prostheses. We propose a one-stage, single setting approach to this problem that fully realigns the foot and requires minimum of post-operative management. Methods: During a 2017 humanitarian mission to Vietnam, six patients with severely deformed, long-neglected club feet were managed at a remote orthopaedic rehabilitation facility using our one-stage, single surgery approach. The six-step procedure included: 1) Percutaneous tri-hemisections (Hoke) of the Achilles tendon, 2) Excision of lateral ulcers/bursas, 3) Minimally invasive releases of all constricting soft tissues structures, 4) Closing wedge osteotomy at apex of deformity, 5) Manual reduction to achieve plantigrade foot, and 6) Maintenance of correction with temporary spanning external fixation in five patients and percutaneous Steinmann pins in a four-year old patient. No tendon transfers were done. No tourniquets or perioperative antibiotics were used with these minimally invasive and percutaneous interventions. At six weeks, the external fixation was removed, walking casts were applied with minimal manipulations to optimally position the feet. At 12 weeks the casts were removed, patients allowed to use footwear of their choosing. Results: Follow-ups initially obtained weekly, then monthly through e-mails by a co-author fluent in Vietnamese were supplemented with photographs. Near-plantigrade feet axially aligned with the leg were obtained with all the initial corrections. By 48 hours pain was reported as minimal even though marked tension occurred across intact joint capsules in order to achieve the corrections. One skin, pin tract infection was reported that resolved once the pin was removed. Follow-up information at six months report that the corrections have been maintained with high satisfaction in all patients. Conclusion: Our innovative approach to deformed, neglected club feet is supported by appreciating the biomechanics of the problems. Dynamic deforming forces (tendons and muscles) must be released. Tendon transfers are inadequate to correct contractures. Bony deformities must be osteotomized. Viscoelasticity of ligaments and joint capsules deform with time and need not be released; corrections initially obtained using the fixators become permanent with time. Our experiences support the use of our approach for the patient population with which we dealt and suggest that earlier soft tissue releases of dynamic deforming forces be done in conjunction with the Ponsetti technique.

A Brief History of Limb Lengthening.

In the last 35 years, orthopaedic surgeons have witnessed 3 major advances in the technique of limb lengthening: "distraction osteogenesis" facilitated by Gavriil Ilizarov method and infinitely-adaptable circular fixator with fine-wire bone fragment fixation; the introduction of the "6-strut" computer program-assisted circular fixators to effect complex deformity correction simultaneously; and the development of motorized intramedullary lengthening nails. However, the principles and associated complications of these techniques are on the basis of observations by Codivilla, Putti, and Abbott from as much as 110 years ago. This review notes the contribution of these pioneers in limb lengthening, and the contribution of Thor Heyerdahl principles of tolerance and diversity to the dissemination of Ilizarov principles to the Western world.

Thumb Lengthening Following Amputation at the Proximal Phalanx using a Semicircular Distraction Ring Fixator: Results of 5 Cases

Traumatic amputation of the thumb at the proximal phalanx or the metacarpophalangeal joint can be treated by distraction lengthening depending on the location of the amputation, the patient's age, occupation and functional demands. We report the results of proximal phalanx lengthening in 5 patients using a semicircular ring-type external fixator device. This prototype was developed at our clinic in collaboration with a specialised small company (Rotomed AG, Allmenstrasse 4, CH-4512 Bellach, www.rotomed.ch) based on the principles of Ilizarov's external fixator. In all patients, subjective and objective results were satisfactory (26.2 mm distraction length and an average Michigan Hand Outcome Score of 82.2%) without any rotational/axial deformities or complications requiring revision surgery.

Preliminary report on amputation versus reconstruction in treatment of tibial hemimelia.

Tibial hemimelia is a rare disorder characterized by the absence or hypoplasia of the tibia with associated rigidity. The aim of this study was to retrospectively evaluate the affectivity of reconstructive surgeries including centralization of the knee-ankle joints and lengthening with Ilizarov principles, as well as physical and functional results of amputation and reconstruction. This is an IRB-approved retrospective review of all patients diagnosed with tibial hemimelia who required surgery at a single institution between 1998 and 2011. Charts were analyzed for clinical and radiographical findings. At final follow-up, patients underwent physical and radiographic examination. Patients and their parents were asked to complete the SF-10™ health survey (QualityMetric Inc., Lincoln, RI, USA). Twenty-one patients (12 male, 9 female) with 30 affected extremities were included. Mean age was 4.8±3.1 years at initial surgery. Knee level disarticulation was performed in 6 extremities of 4 patients. One patient with type III underwent transtibial amputation. Mean number of surgeries for each patient was 6.4±3.3, and mean duration of external fixator and casting was 17±6 months. Mean lengthening was 4.9±1.3 cm, and mean limb length discrepancy was 3.1±1.7 cm at 5.8±3.7 years at follow-up. SF-10™ scores were similar in disarticulated and reconstructed patients (p=0.63). All scores were significantly higher when disarticulation was performed in cases of knee instability (p<0.01). When stability of the knee joint is present, treatment modality should be chosen according to the existence of the proximal tibia. Amputation should be preferred in cases of knee joint instability.

Complex reconstruction in Charcot arthropathy using the Ilizarov ring fixator

From the foot surgeon's point of view, the surgical treatment of Charcot neuro-osteopathy is considered challenging. Conservative treatment using plaster and orthoses is used to treat Charcot arthropathy, especially in the acute stage of a treatment strategy. Surgical treatment using the Ilizarov ring fixator is established for the correction of residual misalignments and also in the acute stage. Advantages of the ring fixator are great stability of the apparatus, low loading of the soft tissues caused by foreign material, and possible long-term treatment. The aim of this work is to explain the indication, planning of correction, assembly of Ilizarov ring fixator, and the postoperative treatment with respect to the literature and the authors' experience. The aim of treatment with the Ilizarov ring fixator is a plantigrade, resilient, ulcer-free foot. Treatment is lengthy for both the affected patients and the attending orthopedic surgeon, and great attention is required to achieve the desired corrections and a good result for the patient. According to the literature and the authors' experience, the results indicate that the Ilizarov ring fixator represents a viable method for the preservation of the affected limb in patients with Charcot neuro-osteopathy. The assembly of the apparatus must follow the principles of Ilizarov in order to avoid failure. Corrective osseous and soft tissue interventions require a detailed preoperative analysis.

Pediatric lower limb Ilizarov lengthening with functional evaluation in adulthood: A report on underprivileged patients

PurposeIlizarov lengthening, with the principles of Ilizarov, requires a collaboration and supervision of the physiotherapist, nurse, and psychologist, preferably in a group-therapy set-up. We report the mid- and long-term functional outcome of cases that had none of the above listed supporting elements. In addition, we tried to observe the effect of the disease category on the final outcome in the patient. MethodIn this study, 35 children who had undergone Ilizarov lower limb lengthening were evaluated using the following methods: clinical, radiographic, and by four functional scoring systems, and parent/patient satisfaction questionnaires, after an average of 17.2 years (10–25 years). ResultsIn this study, 19 boys and 16 girls aged 5–16 years received 18 femoral and 20 tibial lengthening. An average of 6.2 cm lengthening in the femur and 8.4 in the tibia was achieved, with a healing index of 26.5 days. The disease category did not significantly affect the healing index, but the complications, 0.5 per femoral and 0.7 per tibial segment, were more common among congenital, and least among post-traumatic discrepancies. A complete improvement in joint stiffness was observed by 6–12 months post-frame removal in 83% of the cases, following home therapy by parents alone. ConclusionThe long-term results of Ilizarov lengthening for lower limb discrepancy in children, even without group-therapy or good supportive aids, can improve function and maintain patient satisfaction in two thirds of the cases, over an average period of 17 years. Levels of evidenceIV.

Experimental and clinical justification of combined osteosynthesis for long bone defects (preliminary report)

The motivation for researching combined technology of transosseus osteosynthesis and intramedullary nailing was need to reduce time of treatment, and improve the rehabilitation of patients with long bone defects. Defect-pseudoarthrosis with anatomical shortening of the bone was modeled in an experiment in five adult mongrel dogs. Then nailing, Ilizarov transosseous fixation and osteotomy in proximal metadiaphysis were carried out. Bone-transport was produced according to the traditional principles of academic Ilizarov. Radiological findings showed regenerate with zonal structure, bone sections of which were presented homogeneous shadows with a periosteal osteogenesis. After 30 days of distraction regenerate lost its zonal structure, and acquired a mechanical soundness. By this time also was detected consolidation of pseudarthrosis. We have experience of treatment of six patients with posttraumatic defects of the long bones, according to the described method. At the same time carried out transosseous osteosynthesis and nailing with locking in one bone fragment. The osteotomy was performed for following distraction. After necessary length of the bone was received, the opponent locking was carried out. And external fixation was removed. This technology has allowed not using Ilizarov in fixation period of the treatment.

Cadaveric study utilizing the ilizarov method for limb stabilization (LB17)

By utilizing the Ilizarov principles as well as external fixation devices, the objective of this project is to actively demonstrate and analyze post‐fracture tibial‐fibular stabilization. This study will be conducted through the use of a cadaver supplied the University of California San Francisco’s Willed Body Program, and through the use of San Francisco State University’s Human Anatomy Laboratory. This cadaver will have stress applied to the lower limb in order to cause an accurate representation of a medically induced tibial‐fibular fracture. In order to correct this disjunction, the Ilizarov principles and external fixation device will be applied. Upon the placement of the Ilizarov external fixation device, the initial fracture will be corrected to provide stabilization of the tibia and fibula. This poster will aptly showcase the results of this study.Grant Funding Source: None

Management of Nonunion of Tibia by Ilizarov Technique

This prospective study was carried out during the period of January 2007 to December 2011 in Mymensingh Medical College Hospital and other private clinics of Mymensingh town to assess the results of Ilizarov technice for nonunion of the tibia. Here total operated patient were 30, of them 24 were male and 6 were female. 10 cases are hypertrophic, 8 cases are atrophic and 12 cases are infected nonunion. In this series age of the patients was 10 ? 60 years. Motor vehicle accident was the commonest cause of fracture found in 66.67% cases. Second most common cause of injury was fall from height. Among 30 patients proximal corticotomy was done in 24 patient and distal corticomy in 2 patient. Union time was 4-12 months. Among 30 patients 27 were united at initial procedure. From nonunited 3 cases again refreshening of the ends along with bone grafting was done and ultimately 2 were united and 1 remains nonunited. In this series limb length discrepancy reduced to maximum 1.5 cm with contralateral limbs. Average total hospital stay was 15 days. Pin site infection and pain were the commonest complications in our study. Close adherences to Ilizarov principles make it now possible to successfully treat a most of orthopaedic conditions that previously were fraught with high morbidity rates and poor results. DOI: http://dx.doi.org/10.3329/cbmj.v2i2.16697 Community Based Medical Journal 2013 July: Vol.02 No 02: 41-45

The management of skeletal dysplasia

Skeletal dysplasia (SD) is disorders of bone and cartilage development caused by genetic defects. It comprises more than 300 specific disorders[1]. Causative genes responsible for SD include those encoding the bone and cartilage matrix proteins, receptors and intracellular molecules involved in signal pathway of chondrocyte and osteoblast, specific transcription factors, enzymes involved in bone and cartilage metabolism, cell surface ion channels, and so on. Recently, many novel causative genes have been discovered with the help of whole exome sequencing, whose protein function has not been well elucidated. SD had been classified according to their clinical and radiologic phenotype, however with discovery of causative genes, nosology and classification has evolved over the last several decades based more on the genotype. Correct diagnosis is the starting point of optimal management of SD, but it can be very difficult in some cases. One should not hesitate to consult to SD specialists in order to make correct diagnosis. Common clinical problems in the skeletal system that interfere with patients’ daily life include short stature, limb deformity, spine deformity, C1-2 instability, and precocious osteoarthritis. Only few medical treatments effective for SD have been established. Bisphosphonate for osteogenesis imperfecta was the most successful medical treatment so far. Hence, the management of SD is still largely surgical intervention and rehabilitation. Orthopedic correction of the limb deformity can improve not only cosmesis, but also patients’ locomotive function. Distraction osteogenesis by Ilizarov principle makes complex deformity correction possible, and asymmetrical physeal suppression enables minimally invasive correction of the deformity. Bilateral limb lengthening for height became popular since 80’s, but considering its high rate of complication, surgical indication should be narrowed and the surgery should be discussed thoroughly with the patient and parents preoperatively. Many SDs provoke hip problems and various surgical interventions have been applied, but most of them are anecdotal cases with varying outcomes. Atlantoaxial instability may result in a serious outcome, either acutely or chronically. Great attention should be paid to this condition. Surgical intervention of SD is one of the most challenging areas in orthopedic field, and will evolve with advance of orthopedic technology.