Sillence Type Research Articles

Long-term Outcomes of Intramedullary Nails in Osteogenesis Imperfecta: Fewer Surgeries and Longer Survival Times With Telescoping Rods in Patients With Over Ten Years Follow-up.

Intramedullary rodding of lower extremity long bones in patients with osteogenesis imperfecta (OI) is a widely accepted technique for fracture treatment and prevention. Previous small studies with short to medium-term follow-up have shown that telescoping rods have longer survival times compared with static rods. However, there are no long-term studies (10 or more years) longitudinally evaluating the results of these procedures. The purpose of this study was to compare the rod survival duration and number of procedures in patients treated with static versus telescoping rods with 10 years minimum follow-up. This was a multicenter retrospective comparative study of patients with a diagnosis of OI who had intramedullary nailing of the femur and/or tibia. Each bone included in the study had a 10-year minimum follow-up, only one type of rod utilized over the follow-up period, and no rod replacement surgeries outside of the primary hospital system. Patient demographics, clinical data, and details of each procedure were obtained. Groups were compared using univariate analysis with a 2-independent samples t test for continuous variables, χ2 for categorical variables, and the Kaplan-Meier method for survival analysis. A total of 119 bones in 52 patients met inclusion criteria. Average follow up was 13.1 (range: 10.2 to 18.4) years. There were no differences between groups in follow-up length, Sillence type, bisphosphonate use, or age at first-rod placement. There were significantly more tibias treated in the static rod group compared with the telescopic rod group. The average survival length was significantly longer for telescopic rods, 5.8 ± 3.9 years versus 4.0±3.6 years for static rods. On average, bones treated with telescopic rods had significantly fewer surgeries compared with static rods (2.2 ± 0.8 vs 3.3 ± 1.6). At long term follow up, bone segments in patients with OI treated with telescopic rods required fewer surgeries and had longer implant survival times compared with those treated with static rods. When available, surgeons should consider telescopic rods as the initial implant choice in this patient population.

Surgical treatment of osteogenesis imperfecta: a summary of the incidence of femoral implant-related complications in children with Sillence type I, III and IV.

This study explored the incidence of IRCs used in the procedures of the femur in children with osteogenesis imperfecta (OI) and investigated the independent risk factors of IRCs. Three hundred eight-eight cases of surgical data about children with OI were included, who were treated with plate, elastic nail, Kirschner wire and telescopic rod. The choice of different procedures depended on the age of children, the status of femur and the availability of devices. Patient demographics and major IRCs were recorded to compare the outcomes of the four procedures. Then, Cox proportional hazard regression was used to analyse the independent risk factors of IRC, and subgroup analysis was applied to further verify the above results. The total incidence of IRC in the four groups was 90.1% (191/212) for plate, 96.8% (30/31) for Kirschner wire, 87.7% (57/65) for elastic nail and 30.0% (24/80) for telescopic rod. The incidence of IRC in the telescopic rod was lower than that in plate, elastic nail and Kirschner wire (P < 0.001). Cox proportional hazard regression analysis confirmed that procedure was the independent risk factor of IRC (HR, 0.191; 95% CI, 0.126-0.288; P < 0.001), fracture (HR, 0.193; 95% CI, 0.109-0.344; P < 0.001) and deformity (HR, 0.086; 95% CI, 0.027-0.272; P < 0.001). In addition, age of surgery was the independent risk factor of fracture (HR, 0.916; 95% CI, 0.882-0.952; P < 0.001) and deformity (HR, 1.052; 95% CI, 1.008-1.098; P = 0.019). Subgroup analysis confirmed that age of surgery, gender, classification, preoperative state and angle did not affect the effect of telescopic rod on reducing the risk of IRCs. In our cohort, lower incidence of IRCs was observed in telescopic rod group compared with plate, Kirschner wire and elastic nail. Procedure and age of surgery were independent risk factors of fracture. Likewise, procedure and age of surgery were independent risk factors of deformity, and procedure was independent risk factors of IRC.

Characteristics of femoral neck fractures in osteogenesis imperfecta: Series of four-teen consecutive hips in twelve patients

IntroductionWhile long bone fractures are commonly seen in individuals with Osteogenesis Imperfecta (OI), femoral neck fractures (FNF) are exceedingly rare. There is a lack of comprehensive data regarding the etiology of FNFs, their characteristics, and the treatment protocols. Our aim was to determine the characteristics of femoral neck fractures in children with OI. Materials and methodsThis study was conducted as retrospective series covering period of January 2011-December 2022. Total of 14 femoral neck fractures in 12 patients were included into final analysis. Age, gender, fracture location, ambulation level, injury mechanism, Sillence type, pre-fracture collo-diaphyseal angle, presence of previous implants and applied treatments were noted. ResultsThe mean age was 9.3 (range: 3–16), 8 out of 12 patients were males. Sillence type 3 OI was most common (50 %) type. Among 12 patients, 2 (16.6 %) were restricted ambulatory while 5 (41.6 %) were non-ambulatory. Seven patients had prior femoral implants. Six fractures were managed non-operatively, while others underwent surgery, with cannulated screws (42.8 %) or plate osteosynthesis (7.1 %). All eight cases (100 %) with minor trauma or unknown origin were Sillence type 3–4, displaying varus deformity. FNFs that occured in mobile patients required higher-energy traumas. ConclusionFemoral neck fractures in OI showed differing trauma mechanisms in ambulatory vs. non-ambulatory patients. Non-surgical treatment may be considered with in patients with high-risk anesthesia concerns, requiring higher level clinical studies.

THE FASSIER TECHNIQUE FOR CORRECTION OF PROXIMAL FEMORAL DEFORMITY IN CHILDREN WITH OSTEOGENESIS IMPERFECTA

Children with osteogenesis imperfecta (OI) frequently present with coxa vara (CV). Skeletal fragility, severe deformity and limited fixation options make this a challenging condition to correct surgically. Our study aimed to determine the efficacy of the Fassier technique to correct CV and determine the complication rate.Retrospective, descriptive case series from a tertiary hospital. We retrospectively reviewed records of a cohort of eight children (four females, 12 hips) with OI (6/8 Sillence type III, 2/8 type IV) who had surgical treatment with Fassier technique for CV between 2014 and 2020.Inclusion Criteria: All patients with CV secondary to OI treated surgically with Fassier technique.Exclusion Criteria: Patients older than 18 years; Patients with CV treated non-operatively or by surgical technique different to Fassier technique.Data relating to the following parameters was collected and analyzed: demographic data, pre- and postoperative neck shaft angle (NSA), complications and NSA at final follow-up.The mean age at operation was 5.8 years (range 2–10). The mean NSA was corrected from 96.8° preoperatively to 137º postoperatively. At a mean follow-up of 38.6 months, the mean NSA was maintained at 133°, and 83% (10/12) of hips had an NSA that remained greater than 120°. There was a 42% (5/12) complication rate: three Fassier–Duval rods failed to expand after distal epiphyseal fixation was lost during growth; one Rush rod migrated through the lateral proximal femur cortex with recurrent coxa vara; and one Rush rod migrated proximally and required rod revision.The Fassier technique effectively corrected CV in children with moderate and progressively deforming OI. The deformity correction was maintained in the short term. The complication rate was high, but mainly related to the failed expansion of the Fassier–Duval rods.

Which is the best femoral implant in children with osteogenesis imperfecta? a retrospective cohort study of 783 procedures

BackgroundOsteogenesis imperfecta (OI) is a hereditary genetic disorder characterized by bone fragility and extremity deformities. The surgical management for long-bone fractures and deformities in OI remains a challenge. We aimed to compare clinical outcomes after femoral surgery splinted with the telescopic rod, the plate and screws, the elastic nail and the non-elongating rod in setting of OI.Methods A retrospective cohort study included 783 femoral procedures (mean age 6.00 (interquartile range (IQR) 5.00) years, 335 (42.8%) females) was conducted, and individuals were categorized into four groups according to implants. After verifying comparability among the groups, revision rate and implant survival period were compared among the Sillence types and the same comparison were made among four groups within each Sillence type. The incidence of refractures, deformities, and implant-related complications were also compared among the four groups.ResultsThere were no significant differences in demographic information among the four groups in terms of sex (p = 0.101), laterality (p = 0.587), Sillence type (p = 0.122), and postoperative follow-up period (p = 0.214). In total, children with Sillence type III had the highest revision rate and the shortest implant survival period; children with Sillence type I had the lowest revision rate and the longest implant survival period; and children with Sillence type IV had the revision rate and the implant survival period between those observed in Sillence types I and III. In Sillence types III and IV, the telescopic rod had lower revision rate (III 24.8%; IV 20.9%) compared to the plate (III 97.2%, p<0.001; IV 80.3%, p<0.001), the elastic nail (III 100.0%, p=0.019; IV 73.9%, p<0.001) and the non-elongating rod (III 65.0%, p<0.001; IV46.9%, p<0.001); the median implant survival period of the telescopic rod (III 48.00 (IQR 28.50) months; IV 43.00 (33.00) months) is longer than the plate (III 11.00 (9.00) months, p<0.001; IV 19.00 (20.00) months, p<0.001), the elastic nail (III 45.00 (37.75) months, p=1.000; IV 19.00 (35.00) months, p=0.028) and the non-elongating rod (III 39.00 (31.75) months, p=0.473; IV 38.50 (29.75) months, p=1.000).A similar trend was observed in Sillence type I (p = 0.063, p = 0.003; respectively). In addition, the incidence of refracture (15.5%), deformity (2.8%) and implant-related complications (23.1%) were also statistically lower in the telescopic rod group.ConclusionIn our cohort, lower revision rate and longer implant survival period were observed in telescopic rod group. This was mainly due to the significant lower incidence of refracture, deformity and implant-related complications with the use of telescopic rod.

Comprehensive risk assessments and anesthetic management for children with osteogenesis imperfecta: A retrospective review of 252 orthopedic procedures over 5 years.

Major anesthetic risks arise in orthopedic surgeries for children with osteogenesis imperfecta, a rare genetically inherited condition presenting diverse skeletal issues. We aimed to investigate anesthetic risks, including difficult airway, hypo- and hyperthermia, blood loss, and pain, in connection with patient, anesthetic, and surgical factors. Both descriptive and inferential statistics were employed to study the anesthetic risks and their predictors. Data of 252 surgeries for 132 Chinese osteogenesis imperfecta patients aged 18 or below were retrieved from the authors' hospital between 2015 and 2019. Two thirds of the cohort were Sillence type IV patients, with types I, III, and V accounting for 7.6%, 14.4%, and 11.4%, respectively. Video and direct laryngoscopy were used. No case of difficult airway was identified. Due to a careful management strategy, intraoperative temperature varied on average between -0.38°C and +0.89°C from the initial temperature. Fifty-two and 18 cases of hyper- and hypothermia were encountered, respectively. The use of sevoflurane for maintenance resulted in a mean increase of +0.24°C [95% CI 0.05 ~ 0.42] in the maximum temperature. Massive blood losses (>20% of estimated total blood volume) were observed in 18.3% of the cases. Neither intraoperative temperature changes nor blood loss was found to be related to Sillence classification. Regional anesthesia techniques were applied to 72.6% of the cases. Ultrasound guidance was used per the judgment of anesthesiologists or when in case of difficult landmarks. The incidence of difficult regional anesthesia was low (4 out of 252). For postoperative analgesia, 154 neuraxial blocks (including 77 caudal and 77 lumbar epidural) and 29 peripheral nerve blocks were performed. Anesthesia for children with osteogenesis imperfecta undergoing complex orthopedic procedures was challenging. Proper anesthesia planning was essential for both intraoperative management and postoperative analgesia. Age, surgical duration, and use of sevoflurane for maintenance impacted the intraoperative temperature most, and massive blood loss was not uncommon. The risks for airway or regional anesthesia difficulties were low. Pain scores could be controlled to be ≤3 via multiple techniques.

Bony deformities in a child with untreated osteogenesis imperfecta type III

Osteogenesis Imperfecta (OI) is a skeletal dysplasia that affects the cross-linking of Type 1 collagen leading to a wide spectrum of manifestations including bony abnormalities, scleral abnormalities, dentinogenesis imperfecta, and hearing abnormalities [1]. Orthopedic manifestations of OI include basilar invagination, kyphoscoliosis, codfish vertebrae, bowing deformities of the long bones, coxa vara, protrusion acetabuli, pathologic fractures, and radial head dislocations [1]. The Sillence Classification, originally designed to describe Types I – IV, has been expanded upon to includes Type V, VI, VII, which do not have a Type I collagen mutation, and instead have other genetic explanations (CRTAP, LEPRE1 genes) for the abnormal bone seen on microscopy [1,2]. Type I, IV represent milder forms of disease, Type V-VII represent milder forms of disease, Type III is the most severe survivable form, and Type II is lethal at birth [1,2]. We present a case of Sillence Type III OI, diagnosed by genetic analysis at birth, with significant bony deformities. She did not have appropriate multidisciplinary medical management of her condition and presented to our clinic at age 14. Radiographs of the spine and extremities demonstrated kyphoscoliosis, bilateral protrusio acetabuli, multiapical bowing bony deformities of femora, tibia, humeri, forearm, radial head dislocations, and short stature. This case highlights the importance of multidisciplinary management for children with OI. This includes physical rehabilitation [3], bisphosphonates [3,4] and more recently gene therapies [3,4], and stem cell transplantation therapies [4]. Patients with Osteogenesis Imperfecta Type III have a limited lifespan [5] and it is important to maximize the advantage of medical therapies. In the absence of the appropriate medical care, osteogenesis imperfecta can develop progressive deformities in the long bones, a high risk of fragility fractures, and progressive kyphoscoliosis that can be difficult to manage surgically due to underlying osteopenia.

The Fassier technique for correction of proximal femoral deformity in children with osteogenesis imperfecta

ABSTRACT BACKGROUND: Children with osteogenesis imperfecta frequently present with coxa vara. Skeletal fragility, severe deformity and limited fixation options make this a challenging condition to correct surgically. Our study aimed to determine the efficacy of the Fassier technique to correct coxa vara and determine the complication rate METHODS: We retrospectively reviewed the records of a cohort of eight children (four females, 12 hips) with osteogenesis imperfecta (6/8 Sillence type III, 2/8 type IV) who had surgical treatment with the Fassier technique for proximal femoral deformity between 2014 and 2020 RESULTS: The mean age at operation was 5.8 years (range 2-10). The mean neck-shaft angle (NSA) was corrected from 96.8° preoperatively to 137° postoperatively. At a mean follow-up of 38.6 months, the mean NSA was maintained at 133°, and 83% (10/12) of hips had an NSA that remained greater than 120°. There was a 42% (5/12) complication rate: three Fassier-Duval rods failed to expand after distal epiphyseal fixation was lost during growth; one Rush rod migrated through the lateral proximal femur cortex with recurrent coxa vara; and one Rush rod migrated proximally and required rod revision CONCLUSION: The Fassier technique effectively corrected coxa vara in children with moderate and progressively deforming osteogenesis imperfecta. The deformity correction was maintained in the short term. The complication rate was high, but mainly related to the failed expansion of the Fassier-Duval rods. Further studies are required to determine the long-term outcome of this technique Level of evidence: Level 4 Keywords: osteogenesis imperfecta, coxa vara, Fassier-Duval, neck-shaft angle, deformity

Patterns of femoral neck fracture and its treatment methods in patients with osteogenesis imperfecta.

Femoral neck fracture (FNF) is not common in osteogenesis imperfecta patients but may result in serious complications if not properly treated in due time. We present three types of FNF in osteogenesis imperfecta and their characteristics, treatment methods and outcomes. Cases of FNF followed for more than 2 years were selected from the osteogenesis imperfecta database. Medical records and radiographs were reviewed to obtain demographic information and to determine ambulatory status, mode of injury, location of the fracture line, presence of preexisting implants, treatment methods and complications. Outcomes were evaluated according to the radiographic results and ambulatory function. The study investigated 15 FNFs in 10 patients including 1 Sillence type I, 1 type III and 8 type IV. They were either community or household ambulators. The mean age at fracture was 11.7 years. The fractures were followed for an average of 6.3 years. Six fractures were attributed to accidental injuries and nine without noticeable trauma. The fracture pattern was categorized into undisplaced (n = 3), angulated-stable (n = 7) or displaced-unstable (n = 5) types. Five fractures were fixed in-situ using screws or Kirschner wires. Other five fractures were treated by closed reduction and screw fixation and the remaining five fractures were managed by femoral valgus osteotomy. Bony union was achieved, and prefracture ambulatory status was restored in all cases. A high index of suspicion is required in the diagnosis of undisplaced or angulated-stable fractures. Treatment is usually challenging, but a judicious approach considering the fracture pattern and patient characteristics result in successful outcomes. The angulated-stable pattern of fracture is unique in osteogenesis imperfecta patients and requires special attention.

Surgical Outcome of Spinal Fusion for Osteogenesis Imperfecta With Scoliosis: Is the Hybrid System With Pedicle Screws Applicable to Weak, Tiny, and Fragile Vertebrae?

Corrective surgery for spinal deformity associated with osteogenesis imperfecta (OI) is challenging due to the severe and rigid deformity combined with extreme bone fragility. However, surgical outcomes still remain unclear. In addition, the applicability of pedicle screws (PSs) to the tiny and fragile vertebrae in patients with OI is poorly understood. This study evaluated the surgical outcome, and the accuracy and safety of PS placement in patients with OI. Twenty-five patients with OI were included in this study. Mean age was 21.0±9.3 (10 to 49) years. Mean follow-up was 5.8±2.0 years. The Sillence classification showed 16 patients had the mildest type I, 1 patient had moderate type IV, and 8 patients had the most severe type III. Fifteen patients underwent anterior release followed by posterior fusion, and 10 patients underwent only posterior fusion. The accuracy of PS placement was evaluated with postoperative computed tomography. Scoliosis was corrected from 95.6 to 65.8 degrees after surgery (correction rate 32.5%) and 68.1 degrees at final follow-up (both, P<0.01). Space available for the lung was improved from 76.3% to 84.9% (P<0.05). No implant dislodgement occurred after surgery. A total of 290 screws were placed, of which 213 screws (73.4%) were placed completely. However, 30 screws (10.3%) penetrated >2 mm. In particular, rates of >2 mm penetration was much higher in type III than type I and IV (27.8% vs. 3.0%; P<0.01). Complications related to spinal surgery included 2 transient neurological disturbances. PSs were applicable to spinal fusion surgery in patients with OI. However special care should be taken in placing PSs because of the weakness of the pedicle cortex, which was easily penetrated especially in Sillence type III. Level IV.

Short-term comparison of the use of static and expandable intramedullary rods in the lower limbs of children with osteogenesis imperfecta

ABSTRACT BACKGROUND: Children with osteogenesis imperfecta suffer from frequent fractures and deformities due to skeletal fragility. Stabilisation of fractures, correction of deformity and intramedullary rodding result in decreased pain and improved function. Modern expandable intramedullary rods aim to provide lasting stability during growth, without an increase in complications. The aim of our study was to determine and compare the outcome of static Rush rods and expandable Fassier-Duval rods in terms of complications and reoperation rate. METHODS: We reviewed the records of a cohort of 17 children (seven female) with osteogenesis imperfecta (11 Sillence type III, six Sillence type IV) who were treated with intramedullary rods in the lower limb between 2011 and 2017. They had 64 rodding (38 femoral and 26 tibial) procedures (26 Rush rods and 38 Fassier-Duval rods). These were a primary procedure in 46, and a revision procedure after previous Rush rodding in 18 cases. RESULTS: The overall complication rate was 66% (n=42). There was a higher complication rate in the Rush rod group (81%, n=21) when compared to the Fassier-Duval group (55%, n=21)(p=0.035). The most frequent complication in the Rush rod group was distal deformity as the rod is outgrown (69%, n=18). The most frequent complication in the Fassier-Duval rod group was intramedullary migration due to a failure to expand (45%, n=17). Factors that were associated with increased risk of complications included younger age (p=0.031), type of rod (p=0.035), and deformity as an indication for surgery (77% complications, p=0.033). At a mean follow-up of 3.1 years, the reoperation rate in the Rush rod group was 58% (n=15). Comparatively, at a mean of 3.7 years follow-up, there were no reoperations in the Fassier-Duval group. CONCLUSIONS: Despite the numerous innovations, the surgical management of lower limb deformities and fractures in children with osteogenesis imperfecta remains challenging with a relatively high complication rate. The use of Fassier-Duval rods may result in a lower reoperation rate when compared to Rush rods, in the short term. Level of evidence: Level 4 Keywords: osteogenesis imperfecta, intramedullary rod, Rush rod, Fassier-Duval rod, fracture, deformity

Fassier-Duval Rod Failure: Is It Related to Positioning in the Distal Epiphysis?

The relationship between Fassier-Duval (FD) rod placement and rod failure rates has not previously been quantified. Retrospective review was conducted on patients with osteogenesis imperfecta treated with FD rods between 2005 and 2017. Age at first surgery, sex, Sillence type of osteogenesis imperfecta, bisphosphonate treatment, location of rod (side of body and specific bone), and dates of surgeries, radiographs, and rod failures were collected. C-arm images determined rod fixation within the distal epiphysis at the time of surgery. C-arm variables included rod deviation (percent deviation from the midline of the distal epiphysis) and anatomical direction of deviation (anterior/posterior and medial/lateral). X-ray images were examined for rod failure, which was defined as bending, pulling out of the physis, protrusion out of the bone, and/or failure to telescope. Cox proportional hazards regression models were used to compare failure rates with location of placement within the distal epiphysis allowing for clustering of the data by side (left or right) and bone (femur or tibia). The cohort was 13 patients (11 female individuals and 2 male individuals) with a total of 66 rods and 75 surgeries. Mean time from the first surgery to the last follow-up visit was 8.9 years (SD=5 y). There was a 7% increase in hazard of failure per 1-mm increase in antero-posterior (AP) deviation [hazard ratio (HR), 1.07; 95% confidence interval (CI), 1.01-1.14; P=0.029)]. Similarly, there was a 9% increase in hazard of failure for every 1-mm increase in lateral deviation (HR, 1.09; 95% CI, 1.01-1.18; P=0.019). A 12% increase in hazard of failure per 10% increase in deviation from the midline for both AP and lateral radiograph views was also found, although this was only statistically significant for lateral deviation on the AP radiograph view (HR, 1.12; 95% CI, 1.01-1.25; P=0.030). FD rod placement within the distal epiphysis has significant impact on increasing rod survival. Level III-therapeutic study.

Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.

OI is a hereditary disease characterized by compromised connective tissue predominantly caused by mutations in collagen type 1 (COL-1) encoding genes. Widespread symptoms reflect the ubiquity of COL-1 throughout the body. The purpose of this study was to improve our understanding of clinical manifestations by investigating anthropometry and skeletal phenotypes (DXA, HRpQCT) in an adult OI population and compare the findings to underlying COL-1 genotype and structure. The study comprised 85 OI patients aged 45(19-78)years, Sillence type I (n=58), III (n=12), and IV (n=15). All patients underwent DXA, HRpQCT, spine X-ray, biochemical testing, and anthropometry. COL1A1 and COL1A2 were sequenced and 68 OI causing mutations identified (46 in COL1A1, 22 in COL1A2). Analysis of COL-1 structure (quantitative/qualitative defect) by SDS-PAGE was performed in a subset (n=67). A qualitative collagen defect predisposed to a more severe phenotype with reduced aBMD, more fractures, and affected anthropometry compared to patients with a quantitative COL-1 defect (p<0.05). HRpQCT revealed significant differences between patients with OI type I and IV. Patients with type I had lower vBMD (p<0.005), thinner cortexes (p<0.001), and reduced trabecular number (p<0.005) compared to patients with type IV indicating that HRpQCT may distinguish type I from type IV better than DXA. The defective collagen in patients with OI has pronounced effects on the skeleton. The classical OI types based on the clinical classification show profound differences in bone mass and architecture and the differences correlate well with the underlying biochemical and molecular collagen abnormalities.

Femoral non-elongating rodding in osteogenesis imperfecta - the importance of purchasing epiphyseal plate.

Corrective osteotomy and intramedullary rodding are widely used in children with osteogenesis imperfecta (OI), but revision rodding is often required. This study aims to investigate the effect of purchasing distal femoral epiphysis on the longevity of fixation using non-elongating rod. We investigated children with Sillence type III or IV OI who received antegrade femoral Rush rod fixations at age between 4 and 10 years in our institution. The fixations were classified into group A in which the rod reached distal femoral epiphysis and group B in which the rod stopped at femoral metaphysis. Failure of fixation is defined as rod cutting out of the cortex or when revision surgery was performed. Calculation of longevity of each rod fixation and Kaplan-Meier survival analysis were performed and compared between the two groups. Eighteen children had the first femoral rodding at a mean age of 6.9 years and received a total of 61 femoral roddings with a mean follow-up of 11.4 years. Group A included 38 roddings performed at a mean age of 7.1 years and group B included 23 roddings performed at a mean age of 6.6 years. Group A had less revision rate (58% vs. 87%), more chance of survival > 3 years (74% vs. 43%), and longer median survival time (80 months vs. 33 months) than group B. Less revision rate and better 3-year and 5-year survival rate were proved in the roddings that purchased epiphysis. We emphasize on using the precise implant length to purchase distal femoral epiphysis when non-elongating rod is the only available implant for fixation in children with OI.

Behavior of Scoliosis During Growth in Children with Osteogenesis Imperfecta

Spinal deformities are common in patients with osteogenesis imperfecta, a heritable disorder that causes bone fragility. The purpose of this study was to describe the behavior of spinal curvature during growth in patients with osteogenesis imperfecta and establish its relationship to disease severity and medical treatment with bisphosphonates. The medical records and radiographs of 316 patients with osteogenesis imperfecta were retrospectively reviewed. The severity of osteogenesis imperfecta was classified with the modified Sillence classification. Serial curve measurements were recorded throughout the follow-up period for each patient with scoliosis. Regression analysis was used to determine the effect of disease severity (Sillence type), patient age, and bisphosphonate treatment on the progression of scoliosis as measured with the Cobb method. Of the 316 patients with osteogenesis imperfecta, 157 had associated scoliosis, a prevalence of 50%. Scoliosis prevalence (68%) and mean progression rate (6° per year) were the highest in the group of patients with the most severe osteogenesis imperfecta (modified Sillence type III). A group with intermediate osteogenesis imperfecta severity, modified Sillence type IV, demonstrated intermediate scoliosis values (54%, 4° per year). The patient group with the mildest form of osteogenesis imperfecta, modified Sillence type I, had the lowest scoliosis prevalence (39%) and rate of progression (1° per year). Early treatment-before the patient reached the age of six years-of type-III osteogenesis imperfecta with bisphosphonate therapy decreased the curve progression rate by 3.8° per year, which was a significant decrease. Bisphosphonate treatment had no demonstrated beneficial effect on curve behavior in patients with other types of osteogenesis imperfecta or in patients of older age. The prevalence of scoliosis in association with osteogenesis imperfecta is high. Progression rates of scoliosis in children with osteogenesis imperfecta are variable, depending on the Sillence type of osteogenesis imperfecta. High rates of scoliosis progression in type-III and type-IV osteogenesis imperfecta contrast with a benign course in type I. Bisphosphonate therapy initiated before the patient reaches the age of six years can modulate curve progression in type-III osteogenesis imperfecta.

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of collagens from cultured skin fibroblasts, showing structurally abnormal collagen type I, skin biopsy showed unusual histology and abnormal collagen fibril ultra-structure at electron microscopy. The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I collagen defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery.

Two novel distinct COL1A2 mutations highlight the complexity of genotype–phenotype correlations in osteogenesis imperfecta and related connective tissue disorders

Osteogenesis imperfecta is a heritable connective tissue disorder characterized by variable symptoms including predisposition to fractures. Despite the identification of numerous mutations, a reliable genotype–phenotype correlation has remained notoriously difficult. We now describe two patients with osteogenesis imperfecta and novel, so far undescribed mutations in the COL1A2 gene, further highlighting this complexity. A 3-year-old patient presented with features reminiscent of a connective tissue disorder, with joint hypermobility, Wormian bones, streaky lucencies in the long bones and relative macrocephaly. The patient carried a heterozygous c.1316G > A (p.Gly439Asp) mutation in the COL1A2 gene located in a triple-helix region, in which glycine substitutions have been assumed to cause perinatal lethal OI (Sillence type II). A second family with type I osteogenesis imperfecta carried a heterozygous nonsense mutation c.4060C > T (p.Gln1354X) within the last exon of COL1A2. Whereas other heterozygous nonsense mutations in COL1A2 do not lead to a phenotype, in this case the mRNA is presumed to escape nonsense-mediated decay. Therefore the predicted COL1A2 propeptide lacks the last 13 C-terminal amino acids, suggesting that the OI phenotype results from decelerated assembly and overmodification of the collagen triple helix. The presented COL1A2 mutations exemplify the complexity of COL1A2 genotype–phenotype correlation in genetic counselling in OI.

Enhanced Callus Formation After Six Weeks of Parathyroid Hormone Treatment in a Man with Multiple Pelvic Fractures and Osteogenesis Imperfecta Type IV: A Case Report.

Osteogenesis imperfecta (OI) is a genetic disorder involving a defect in collagen synthesis1-3. OI is characterized by impaired bone formation, low bone mass, and deterioration of bone architecture in adults4,5. Typical bone features are a decrease in trabecular thickness and number of trabeculae, as well as thin cortices. As a result, there is increased bone fragility with recurrent fractures, leading frequently to skeletal deformities. Currently, no supportive therapy for fracture-healing is available, although preclinical studies show promise for the use of teriparatide (parathyroid hormone [PTH] 1-34)6-9. We present the case of a patient with multiple pelvic fractures and osteogenesis imperfecta type IV who demonstrated enhanced callus formation after treatment with PTH. The patient was informed that data concerning the case would be submitted for publication and he provided consent. A seventy-eight-year-old man with osteogenesis imperfecta (Sillence type IV) was admitted to the hospital with severe pelvic pain following pelvic fractures in five locations (the superior and inferior pubic rami on both the left and right sides and the sacrum), which had been sustained three months earlier after a fall. The initial office visit had been in a specialized trauma center. The patient had been treated with bisphosphonate therapy (alendronate followed by ibandronate) for a minimum of ten years. Since the occurrence of the pelvic fractures, the patient had been confined to a wheelchair and had been dependent on analgesics (tramadol hydrochloride, metamizol, diclofenac) for severe, chronic pain. The earlier fracture history had consisted of numerous nonvertebral fractures after minor trauma in the left radius, right malleolus, right thumb, left femoral neck (followed with total endoprosthesis), ilium, and multiple ribs. The spine had been stabilized from T12 to L2, with posterior lumbar interbody fusion …

End-stage Posttraumatic Osteoarthritis Treated With THA in Osteogenesis Imperfecta

Osteogenesis imperfecta is an incurable genetic disorder manifested with altered bone quality that predisposes patients to a multitude of fractures throughout their lives, including acetabular fractures. The management of acetabular fractures in patients with osteogenesis imperfecta remains a challenging clinical problem, with a paucity of literature supporting treatments and their outcomes. Limited reports in the literature validate the use of total hip arthroplasty (THA) in patients with osteogenesis imperfecta, and they describe the adult population only.This article describes a case of delayed diagnosis of a transverse acetabular fracture and femoral head impaction fracture that led to posttraumatic end-stage hip osteoarthritis in a 16-year-old boy with osteogenesis imperfecta (Sillence Type I) that was sustained after minimal trauma. Clinical examination 3 months postinjury revealed a significant pelvic obliquity, severe pain with hip range of motion, and limited hip range of motion. Imaging studies revealed a complete loss of articular cartilage and significant joint effusion.The patient underwent THA. No postoperative complications occurred. Two-year follow-up showed an excellent clinical result. The patient's hip was pain free, and he was able to walk with no limp.The authors are unaware of any reported cases of children with osteogenesis imperfecta undergoing THA. Based on the reported literature and the authors' experience, THA can be a reliable surgical option for patients with osteogenesis imperfecta.

A scoring system for the assessment of clinical severity in osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a genetic disorder characterized by bone fragility and fractures. Patients with OI have clinical features that may range from mild symptoms to severe bone deformities and neonatal lethality. Numerous approaches for the classification of OI have been published. The Sillence classification is the most commonly used. In this study, we aimed at developing a more refined sub-classification by applying a proposed scoring system for the quantitative assessment of clinical severity in different types of OI. This study included 43 patients with OI. Clinical examination and radiological studies were conducted for all patients. Cases were classified according to the Sillence classification into types I-IV. The proposed scoring system included five major criteria of high clinical value: number of fractures per year, motor milestones, long bone deformities, length/height standard deviation score (SDS), and bone mineral density (BMD). Each criterion was assigned a score from 1 to 4, and each patient was marked on a scale from 1 to 20 according to these five criteria. Applying the proposed clinical scoring system showed that all 11 patients with Sillence type I (100%) had a score between 6 and 10, denoting mild affection. The only patient with Sillence type II had a score of 19, denoting severe affection. In Sillence type III, 7 patients (31.8%) were moderately affected and 15 patients (68.2%) were severely affected. Almost all patients with Sillence type IV (88.9%) were moderately affected. Applying the proposed scoring system can quantitatively reflect the degree of clinical severity in OI patients and can be used in complement with the Sillence classification and molecular studies.