The Fate of the Bent Rod in Children With Osteogenesis Imperfecta.

BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder characterized by brittle bones and long bone deformity. Realignment and intramedullary rodding with telescopic rods are indicated for progressive deformity and can help prevent fractures. Rod bending is a reported complication of telescopic rods and a common indication for revision; however, the fate of bent lower extremity telescopic rods in the setting of OI has not been reported. METHODS: Patients with OI at a single institution who underwent lower extremity telescopic rod placement with at least 1-year follow-up were identified. Bent rods were identified, and for these bone segments, we collected the location and angle of bend, subsequent telescoping, refracture, increasing angulation of bend, and date of revision. RESULTS: One hundred sixty-eight telescopic rods in 43 patients were identified. Forty-six rods (27.4%) bent during follow-up, with an average angulation of 7.3 (range: 1 to 24) degrees. In patients with severe OI, 15.7% of rods bent compared with 35.7% in nonsevere OI ( P =0.003). The proportion of bent rods was different between independent and nonindependent ambulators (34.1% and 20.5%; P =0.035). Twenty-seven bent rods (58.7%) were revised, with 12 rods (26.0%) revised early (within 90 d). The angulation of rods that were revised early was significantly higher than rods not (14.6 and 4.3 degrees, P <0.001). Of the 34 bent rods not revised early, the average time to revision or final follow-up was 29.1 months. Twenty-five rods (73.5%) continued to telescope, 14 (41.2%) increased in angulation (average 3.2 degrees), and 10 bones (29.4%) refractured. None of the refractures required immediate rod revision. Two bones had multiple refractures. CONCLUSIONS: Bending is a common complication of telescopic rods in the lower extremities of patients with OI. It is more common in independent ambulators and patients with nonsevere OI, possibly because of the increased demand placed on the rods. Rods with a small bend and maintained fixation can telescope and need not be an indication for immediate revision. LEVEL OF EVIDENCE: Level III-Retrospective review.

Multicenter Series of Deformity Correction Using Guided Growth in the Setting of Osteogenesis Imperfecta.

BACKGROUND: The mainstay of deformity correction and fracture prevention for patients with osteogenesis imperfecta (OI) includes osteotomies and intramedullary rodding. Guided growth, described in the setting of skeletal dysplasias, offers a less invasive means of deformity correction. We report a multicenter case series of guided growth procedures in the setting of OI. METHODS: We retrospectively reviewed patients with OI at three institutions from April 2012 to April 2019: 18 patients underwent guided growth for angular deformity correction with minimum 1-year follow-up or full deformity correction and removal of guided growth hardware. Clinical characteristics, deformity measurements, and complications were collected. Distal femoral and proximal tibial hemiepiphysiodesis was performed using figure-of-eight plates and screws, and distal tibial medial hemiepiphysiodesis with cannulated screws. Preoperative and postoperative lateral distal femoral angle, medial proximal tibial angle, and lateral distal tibial angle were measured. Frequency and descriptive statistics were completed. RESULTS: Eighteen patients with OI (five-I, four-III, six-IV, three-V) underwent 33 guided growth procedures with mean follow-up of 3.09 years; all received routine bisphosphonate treatment. Preoperative and postoperative mean joint angles were measured. The location for hemiepiphysiodesis included 8 distal femoral medial, 2 distal femoral lateral, 8 proximal tibial medial, 3 proximal tibial lateral, and 12 distal tibial medial. Twelve of the 33 procedures were in patients who had an intramedullary rod; 1 demonstrated backout of the epiphyseal and metaphyseal screws of a distal femoral medial figure-of-eight plate. It was revised to a larger plate with longer screws and removed upon completion of deformity correction. CONCLUSION: Guided growth may be used as an effective means of angular deformity correction with dysplastic OI bone. Having an intramedullary rod did not preclude the use of a guided growth technique. One procedure demonstrated screw backout. Given the short stature associated with OI, performing a guided growth procedure at an early enough age to allow time for correction should be considered. LEVEL OF EVIDENCE: Level IV-case series.

Stress Shielding in the Setting of Osteogenesis Imperfecta and the Effect of Downsizing an Intramedullary Rod: A Case Report.

CASE: Cortical atrophy, or stress shielding, secondary to a large-diameter femoral intramedullary rod was noted over almost a decade in a now 14-year-old girl with osteogenesis imperfecta (OI). After an initial minimally invasive unsuccessful revision, we downsized the left femur rod with realignment and noted restoration of the left femur cortical thickness. CONCLUSION: We demonstrate the significant functional impact of stress shielding and its evolution over a protracted period and outline treatment principles. To our knowledge, this is the first report of treatment of stress shielding of a long bone in the setting of OI.

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams.

Background and purpose - Involvement of patient organizations is steadily increasing in guidelines for treatment of various diseases and conditions for better care from the patient's viewpoint and better comparability of outcomes. For this reason, the Osteogenesis Imperfecta Federation Europe and the Care4BrittleBones Foundation convened an interdisciplinary task force of 3 members from patient organizations and 12 healthcare professionals from recognized centers for interdisciplinary care for children and adults with osteogenesis imperfecta (OI) to develop guidelines for a basic roadmap to surgery in OI.Methods - All information from 9 telephone conferences, expert consultations, and face-to-face meetings during the International Conference for Quality of Life for Osteogenesis Imperfecta 2019 was used by the task force to define themes and associated recommendations.Results - Consensus on recommendations was reached within 4 themes: the interdisciplinary approach, the surgical decision-making conversation, surgical technique guidelines for OI, and the feedback loop after surgery.Interpretation - The basic guidelines of this roadmap for the interdisciplinary approach to surgical care in children and adults with OI is expected to improve standardization of clinical practice and comparability of outcomes across treatment centers.

A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta.

BACKGROUND: Osteogenesis Imperfecta (OI) is a genetic disorder also known as 'brittle bone disease'. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to a non-standardized and wide variation of patient outcomes thus making the comparison of outcome measures available in the literature difficult. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of OI that comparisons across interdisciplinary treatment centers for OI will be possible in the future. METHODS: The Key4OI international interdisciplinary working group of 27 members used a consensus-driven modified Delphi approach to develop a set of global outcome measures for patients with OI. The International Classification of Functioning, Disability and Health (ICF), was used to define domains and organize the outcomes from the literature search. After reviewing the outcomes extracted from the literature, trials and registries, the working group agreed on a final selection of domains and their definition (ICF definition as well as a lay description). These domains were then presented to the focus groups who prioritized the outcome domains by taking into account the items important to the OI community. All content was collected and analyzed and final domains were determined. A consensus of appropriate measuring instruments for each domain was reached with Delphi rounds. The entire approach was in line with the International Consortium for Health Outcomes Measurement ICHOM methodology. RESULTS: More than 400 different outcome measures were identified in our literature search. After three Delphi rounds, 24 domains were selected. After the focus group sessions, the number of domains were reduced to 15. A consensus was reached on the measuring instruments to cover these domains for both children and adults. CONCLUSION: The Key4OI project resulted in standard set of outcome measures focused on the needs and wishes of individuals with OI and their families. This outcome set will enable healthcare teams and systems to compare and to improve their care pathways and quality of care worldwide. Further studies are needed to evaluate the implementation of this standardized outcome set.

Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period.

Osteogenesis imperfecta (OI) is a rare genetic heterogeneous disorder that causes increased bone fragility and recurrent fractures. For infants with OI and diffuse fractures, pain management, which is nuanced and specific for this population, is of the utmost importance to their neonatal care. Through experience at our center, we have developed a standard approach that has been successful in optimizing survival for these infants during this tenuous period. In this paper, we outline our multidisciplinary approach to pain management for infants with moderate to severe OI during the neonatal period, with emphasis on promotion of fracture healing and adequate pain control.

Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5.

OBJECTIVES: Osteogenesis imperfecta (OI) is a heterogeneous group of genetic disorders of connective tissue that cause skeletal fragility and extra-skeletal manifestations. Classically, four different types of OI were distinguished. Type 5 OI was added due to its distinct clinical and radiographic features. In 2012, two independent groups identified a recurrent heterozygous c.-14C>T mutation in IFITM5 as the responsible genetic change for this type of OI. To our knowledge, cervical kyphosis has not been identified in the literature as a finding in type 5 OI patients. This is a retrospective review of a cohort of patients with type 5 OI and a description of associated cervical spine deformity. METHODS: After institutional review board approval, a retrospective review identified 13 patients with type 5 OI. Clinical, radiologic, and genetic data from 2002 to 2020 were reviewed. RESULTS: We identified 13 patients with clinical diagnosis of type 5 OI. Twelve had molecular confirmation and the classic IFITM5, c.14C>T gene mutation was identified. The remaining individual did not undergo genetic testing. Dentinogenesis imperfecta was observed in one patient, while blue sclerae or hearing loss were not present. All patients had at least one fracture and four underwent intramedullary rodding. Radiologic features included subphyseal metaphyseal radiodense line in 12/13 patients (92%), interosseous membrane calcification in seven of 13 patients (54%) (more commonly noted in the upper extremities), and hypertrophic callus in six of 13 patients (46%). Thoracolumbar spinal deformities were seen in six of 13 patients (46%) with two of these individuals requiring surgery. Cervical kyphosis was noted in nine of 13 individuals (69%) ranging in age from 3 months to 22 years. Anterior wedging of the cervical vertebral bodies was noted in the absence of any fractures. Six of nine individuals demonstrated listhesis of C2-C3 or C3-C4 segment. Magnetic resonance imaging studies were performed and reviewed in patients with cervical kyphosis and subluxation; three patients showed narrowing of spinal canal without cervical cord compression and one asymptomatic patient showed impingement of the spinal cord. CONCLUSIONS: Cervical kyphosis appears to be a common feature of type 5 OI. It can be a presenting and apparently life-long association and does not appear to be caused by vertebral body fractures. Evaluation for cervical kyphosis should be performed in patients with a suspected or confirmed diagnosis of type 5 OI. Furthermore, if cervical kyphosis is noted in an individual with OI, type 5 OI should be considered.Level of evidence: IV.

A Metaphyseal Corner Fracture that Wasn't: A Case Report of Osteitis from Congenital Syphilis.

CASE: Congenital syphilis (CS) is an infrequently seen condition in the United States; however, rates of CS have been on the rise. We present a case of an infant with a lesion of the radius that was initially diagnosed as a metaphyseal corner fracture and treated as such until maternal syphilis testing was noted to be positive. Ultimately, the child was diagnosed with CS. She is now undergoing treatment with penicillin and recovering well. CONCLUSION: Although CS is rare, the incidence is on the rise and should remain on the differential of lytic lesions of bone in young children.

Alternatives to Traditional Cast Immobilization in Pediatric Patients.

Casts are commonly used for fracture management and postoperative immobilization in pediatric patients. However, cast immobilization is not without complications (eg, thermal injuries, pressure sores, infection, and neurovascular injury) and may be associated with additional costs and increased loss of school/work days for cast removal or other complications. The disadvantages of traditional casting can be minimized by alternative management strategies: waterproof casts to facilitate bathing and swimming; a Pavlik harness in infants, a single-leg spica cast, or flexible intramedullary nails to avoid complications with double-leg spica casts for femur fractures; and braces or splints to manage buckle and minimally displaced distal radius fractures, toddler's fractures, and stable foot/ankle fractures.

Evaluation of Fracture and Osteotomy Union in the Setting of Osteogenesis Imperfecta: Reliability of the Modified Radiographic Union Score for Tibial Fractures (RUST).

BACKGROUND: Evaluation of the union of osteotomies and fractures in patients with osteogenesis imperfecta (OI) is a critical component of patient care. Studies of the OI patient population have so far used varied criteria to evaluate bony union. The radiographic union score for tibial fractures (RUST), which was subsequently revised to the modified RUST, is an objective standardized method of evaluating fracture healing. We sought to evaluate the reliability of the modified RUST in the setting of the tibias of patients with OI. METHODS: Tibial radiographs of 30 patients with OI fractures, or osteotomies were scored by 3 observers on 2 separate occasions. Each of the 4 cortices was given a score (1=no callus, 2=callus present, 3=bridging callus, and 4=remodeled, fracture not visible) and the modified RUST is the sum of these scores (range, 4 to 16). The interobserver and intraobserver reliabilities were evaluated using intraclass coefficients (ICC) with 95% confidence intervals. RESULTS: The ICC representing the interobserver reliability for the first iteration of scores was 0.926 (0.864 to 0.962) and for the second series was 0.915 (0.845 to 0.957). The ICCs representing the intraobserver reliability for each of the 3 reviewers for the measurements in series 1 and 2 were 0.860 (0.707 to 0.934), 0.994 (0.986 to 0.997), and 0.974 (0.946 to 0.988). CONCLUSIONS: The modified RUST has excellent interobserver and intraobserver reliability in the setting of OI despite challenges related to the poor quality of the bone and its dysplastic nature. The application and routine use of the modified RUST in the OI population will help standardize our evaluation of osteotomy and fracture healing. LEVEL OF EVIDENCE: Level III-retrospective study of nonconsecutive patients.

Adult Tourniquet for Use in School-Age Emergencies.

BACKGROUND: Gunshot injuries are a leading cause of morbidity and mortality in the pediatric population. The Pediatric Trauma Society supports the use of tourniquets for exsanguinating hemorrhage in severe extremity trauma. The Combat Application Tourniquet (CAT) used with success in adults has not been prospectively tested in children. Our objective with this study was to determine if the CAT is successful in arresting extremity arterial blood flow in school-aged children. METHODS: Sixty school-aged volunteers (ages 6-16 years) recruited by age cohort had the CAT applied to an upper arm and thigh while peripheral pulse was monitored by Doppler. The number of windlass turns (maximum allowed: 3 [1080°]) required to arrest arterial pulse was recorded. Success was analyzed by BMI percentile for age and extremity circumference. RESULTS: The CAT was successful in occluding arterial blood flow as detected by Doppler pulse in all 60 (100%) of the upper extremities tested. In the lower extremity, 56 (93%) had successful occlusion. The 3-turn maximum allowed by the protocol was not adequate in some obese, older subjects (BMI >30). In both the upper and lower extremity, the number of turns required to occlude blood flow gradually increased with an increase in arm and thigh circumference. CONCLUSIONS: Prospective testing of a cohort of school-aged children 6 to 16 years revealed the CAT tourniquet to be suitable for use in both the upper and lower extremity.

Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up.

The aim of this study was to evaluate the association of contractures, fractures, and deformities in four patients with Bruck syndrome treated in our facility. Data were collected from medical records, radiographs, dual-energy X-ray absorptiometry (DEXA) scans, genetic tests, and gait analysis. All had contractures at birth and genotypic findings including mutations in PLOD2 or FPKB10. Three cases were treated with bisphosphonates with improvement in bone density verified by DEXA. In Bruck syndrome, orthopedic deformities include the following sequential aspects: contractures, characterized by upper and lower extremity contractures such as clubfeet; fractures, characterized by multiple diaphyseal fractures in the long bones of the extremities; and deformities, characterized by malalignment of extremities and the spine. Physical therapy and bracing proved helpful for the contractures to try to stop progression. Bone fragility needs to be considered when deciding to attempt cast correction. Surgeries in the soft tissues can be performed to retain joint movement. In fractures with angulation, intramedullary nail fixation was useful, and in cases without deformity, casting alone was successful. We suggest monitoring the bone density with DEXA, nutrition support with vitamin D and calcium, and treatment with bisphosphonates. Spine deformities were successfully treated by spinal fusion and instrumentation.

Osteogenesis Imperfecta: A Pediatric Orthopedic Perspective.

Osteogenesis imperfecta is a genetically and phenotypically heterogeneous disorder related to a defect or deficiency in the production of type I collagen. It is characterized by brittle bones, fractures, spine and extremity deformity, and a host of extraskeletal manifestations. Type I collagen is present in bone, tendons, ligaments, skin, dentin, and the sclera of the eye and other connective tissues. Osteogenesis imperfecta includes a multitude of disease manifestations that may be present at birth or develop over time and vary depending on the severity of the disease. This article describes the disease presentation and management considerations from a pediatric orthopedic perspective.

A moderate form of osteogenesis imperfecta caused by compound heterozygous LEPRE1 mutations.

Osteogenesis imperfecta (OI) is a genetic disorder causing skeletal fragility, multiple fractures, and other extraskeletal manifestations. Most cases are caused by mutations in COL1A1 or COL1A2. Recent investigations have discovered several other autosomal recessive genes responsible for OI. Among these genes is LEPRE1, which is involved in post-translational modifications of collagen. To date, more than 40 LEPRE1 mutations have been described. One of these mutations is carried by 1.5% of West Africans and 0.4% of African Americans, and is associated with OI Type VIII. We describe the case of a five year old male with a moderate form of OI and compound heterozygous LEPRE1 mutations (c.1080 + 1G > T; c.1646 T > G, p.Met549Arg). He was diagnosed shortly after birth following a skeletal survey demonstrating multiple healing fractures as well as lower extremity deformity suggestive of remote fractures. He was then without a fracture until a calvarial fracture at 18 months of age, a femur fracture at 4 years and seven months and a second femur fracture at 5 years and 4 months. He walked at age 14 months and has been an active boy. Pamidronate infusions began at seven weeks of age and were discontinued at three years of age due to increased bone mineral density and absence of fractures. Type VIII OI typically causes a severe to lethal phenotype presenting at birth with severe osteopenia, congenital fractures and other clinical manifestations. Only a few individuals have survived to childhood. This case description serves to expand the clinical phenotyping of this recessive form of OI into the more moderate spectrum.

Dynamic Lower Extremity Deformity in Children With Pseudoachondroplasia.

BACKGROUND: Pseudoachondroplasia is a diverse group of skeletal dysplasias with a common pathway of altered cartilage oligomeric matrix protein (COMP) production. This rhizomelic dwarfism is commonly associated with deformities of the lower extremities, accelerated osteoarthritis, and ligamentous laxity. One of the most common alignment problems is coronal knee angulation which combined with tibial torsion, results in a complex deformity. The outcome of surgical correction of these deformities is variable. METHODS: This study used 3-dimensional gait analysis to describe the kinematic deformities in 12 children (aged 3 to 15 y) and compared them to the static deformities measured on standing anteroposterior radiograph. RESULTS: Both gait analysis and radiographs showed large variability in the coronal deformities but strong correlation to each other. Gait analysis showed mean varus alignment of the knee to be 13.5±13.1 degrees; that mean is not statistically different from radiographs, which showed a mean varus of 16.2±17.1 degrees. The correlation coefficient between radiographic and kinematic measurement was 0.70. The kinematic internal tibial torsion measured an average 15±19 degrees, which was moderately correlated to knee varus (r=0.45, P<0.01). CONCLUSIONS: Measurements of varus-valgus alignment correlated well between gait analysis and radiographs. Tibial torsion correlated with varus. In the absence of gait analysis, anteroposterior standing leg length radiographs with the patella facing foreward can be used to assess deformity. As this study does not correlate these measurements to postoperative results, an appropriately powered prospective study and further investigation of biological effects of altered cartilage oligomeric matrix protein production are needed to explain the variable surgical outcomes. LEVEL OF EVIDENCE: Level IV-case series without control group).

Intramedullary nailing with supplemental plate and screw fixation of long bones of patients with osteogenesis imperfecta: operative technique and preliminary results.

Although intramedullary fixation is the standard form of surgical fixation of the long bones of children with osteogenesis imperfecta (OI), it remains fraught with complications. Implant breakage, implant cut out, long bone fracture, nonunion, and rod bending have all been described as complications of intramedullary long bone fixation in children with OI. Supplemental fixation techniques represent an attempt to decrease these risks of surgical implant failure of intramedullary devices. A supplemental plate and screw construct at a fracture or an osteotomy site in addition to an intramedullary device in the long bone segment is one such form of supplemental fixation. The aim of this study is to describe the surgical technique and early results of plate and screw fixation used to supplement intramedullary fixation in a subset of our OI patient population. This is a retrospective review and report on 14 long bone segments of 11 children with OI who have undergone intramedullary fixation as well as supplemental fixation at osteotomy or fracture sites with a plate and screw construct. The long bone segments treated with intramedullary fixation and a supplemental plate and screw construct included 11 femurs, two tibias, and one humerus. Intramedullary devices included a combination of telescoping and nontelescoping implants. The mean follow-up duration was 10 months. All 14 long bone segments have gone on to radiographic union. The average time to union was 8.8 weeks (range: 6.5-17 weeks). In 11 of the long bone segments, the supplemental plate fixation was applied to the site of a fracture or osteotomy. In one case, supplemental plate fixation was applied to the site of a nonunion (distal humerus nonunion). We describe various options of this surgical technique and early results. Although further follow-up and investigation will provide further insight into long-term outcomes, supplemental plate and screw fixation is a valuable and versatile option for this challenging patient population.

Categorization of the Usage of Adjunctive Structural Allograft Bone Graft in Extremity Surgery for Patients with Osteogenesis Imperfecta.

Structural allograft bone plays a role in orthopedic surgery. Our purpose is to describe the methods of using structural allograft in extremity reconstruction surgery in patients with osteogenesis imperfecta (OI) and create a classification of usage with a single-center review of OI extremity cases from January 2002 to February 2017. Structural allograft was used in 19 bone segments in 15 patients with type III OI. Four categories of usage were defined: (1) interpositional, (2) onlay, (3) inlay, and (4) blocking to prevent rod migration. The mean time to incorporation was 5.4 months (range 1-16). Structural allograft bone incorporates into OI bone and may be a supplement to intramedullary fixation.

The Spine in Patients With Osteogenesis Imperfecta.

Osteogenesis imperfecta is a genetic disorder of type I collagen. Although multiple genotypes and phenotypes are associated with osteogenesis imperfecta, approximately 90% of the mutations are in the COL1A1 and COL1A2 genes. Osteogenesis imperfecta is characterized by bone fragility. Patients typically have multiple fractures or limb deformity; however, the spine can also be affected. Spinal manifestations include scoliosis, kyphosis, craniocervical junction abnormalities, and lumbosacral pathology. The incidence of lumbosacral spondylolysis and spondylolisthesis is higher in patients with osteogenesis imperfecta than in the general population. Use of diphosphonates has been found to decrease the rate of progression of scoliosis in patients with osteogenesis imperfecta. A lateral cervical radiograph is recommended in patients with this condition before age 6 years for surveillance of craniocervical junction abnormalities, such as basilar impression. Intraoperative and anesthetic considerations in patients with osteogenesis imperfecta include challenges related to fracture risk, airway management, pulmonary function, and blood loss.

MRI findings of post-traumatic subperiosteal hematoma of the iliac bone with resultant femoral nerve palsy in an adolescent boy.

Post-traumatic subperiosteal hematoma of the iliac bone may present insidiously without external evidence of bleeding or go undetected in the acute setting. In some cases, the patient may come to medical attention due to femoral nerve palsy rather than hip or groin pain. In this report, we describe a case of femoral nerve palsy caused by acute post-traumatic subperiosteal hematoma of the iliac bone using MRI to highlight the subperiosteal location. Anatomy of the femoral nerve is also discussed.