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.

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.

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.

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).

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.

CT Utilization for Pediatric Orthopedic Trauma.

BACKGROUND: The use of computed tomography (CT) scanning in trauma has tripled in the past decade in adults and children alike. There is growing concern about the long-term risks of radiation delivery in childhood. There is little information in the literature on radiation exposure during extremity CT in children. This study evaluated the radiation dose and geographic bodily exposure to the child/adolescent during extremity CT. METHODS: A retrospective review of 163 patients (girls aged 0.5-19 years and boys aged 3.1-19 years) who sustained an orthopedic extremity injury that required a CT scan in 2012 was performed. Data collected included sex, age, height, weight, body mass index (BMI), joint, upper extremity position, body position, scout start, scout end, CTDIvol (mGy), and dose length product (CTDLP (mGy-cm)). RESULTS: Lower extremity scans were more frequent (124/163, 76 percent) and had higher radiation doses overall. Only the elbow varied for upper extermity positioning. Five of nine were on the side of body with a corresponding 66 percent lower mean radiation dose. All lower extremity scans were in the supine position. Scout CT start and end varied among all joints except for femur to tibia. CONCLUSIONS: Lower extremity CT scans had the highest radiation doses. Variability in positioning and delineation of scout contributed to variation in radiation exposure of extremity and adjacent body area. Improved localization and consistent positioning can effectively lower radiation exposure in children undergoing extremity CT scan.

Inter-observer reliability of the ankle-brachial index in a pediatric setting.

OBJECTIVE: The aim of our study was to determine the inter-observer reliability of the ankle-brachial index (ABI) in the pediatric population. This was done to determine if this simple diagnostic test could be utilized in lieu of CT angiograms to reduce radiation exposure to children sustaining trauma, particularly physeal fractures about the knee. DESIGN: Diagnostic study of consecutive patients with no applied "gold-standard" test. SETTING: Level I pediatric hospital. PATIENTS/PARTICIPANTS: Thirty consecutive patients from a busy fracture clinic were recruited. Patients ranged in age from 7-17 years. INTERVENTION: Manual systolic blood pressure measurements from uninjured limbs were taken by two independent attending orthopaedic surgeons from the ipsilateral brachial, dorsalis pedis, and posterior tibial arteries of each patient. MAIN OUTCOME MEASUREMENTS: The intraclass correlation coefficients from each anatomic area were calculated. RESULTS: Intraclass correlation of measurements from all three anatomic locations showed good inter-observer reliability. The intraclass correlation coefficients from the brachial, dorsalis pedis, and posterior tibial arteries were 0.699, 0.815, and 0.740, respectively. Therefore, the calculation of the ABI was consistent between the two observers despite any variability in individual pressure measurements. CONCLUSIONS: The ABI is a fast, non-invasive test that can be applied to the pediatric population in the evaluation of lower extremity arterial injury associated with orthopaedic trauma. It can obviate the need for tests such as CT angiograms that have inherent risks, particularly those associated with radiation exposure that are of concern in a young child.

Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation.

STUDY DESIGN: A retrospective study. OBJECTIVE: To report the early postoperative results of scoliosis surgery in osteogenesis imperfecta (OI) patients utilizing all pedicle screw constructs and present a novel cementing technique to increase pedicle screw purchase in the osteoporotic OI spine. SUMMARY OF BACKGROUND DATA: Scoliosis surgery utilizing hooks and wire systems have high complication rates in OI. Pedicle screw fixation systems have the biomechanical advantage of 3-column fixation, and cement augmentation of pedicle screws provides additional pull-out strength in the osteoporotic OI spine. METHODS: The clinical and radiologic results of 10 consecutive OI patients treated with all pedicle screw instrumentation and fusion were retrospectively reviewed. The radiologic data included preoperative and postoperative major curve measurements: major curve Cobb angle, global coronal balance (GCB), apical vertebral translation (AVT), and the lowest instrumented vertebral (LIV) tilt. Operative findings included blood loss, surgery time, and additional procedures. All patients received intravenous pamidronate therapy preoperatively to increase bone mineral density. RESULTS: Ten patients with OI were operated on between 2005 and 2009. Seven had cement-augmented pedicle screw insertion at the proximal and distal foundations. The mean hospital stay was 10±7.5 days (range, 4-27 d) and the average follow-up period was 25.7±13.1 months (range, 14-50 mo). Mean preoperative and postoperative major Cobb angles were 83.7±23.8 and 40.3±14.6 degrees, respectively (48% correction; P<0.05). Mean preoperative and postoperative GCB deviations were 26.7±18.6 and 14.1±13.3 mm, respectively (P=0.097). Mean preoperative and postoperative AVTs were 69.3±29.1 and 29±12.2 mm, respectively (P<0.05). Preoperative and postoperative LIV tilts were 18.5±8.9 and 5.2±3.9 degrees, respectively (P<0.05). At the latest follow-up, the mean major curve Cobb angle was 37.7±13.1 degrees, the GCB deviation was 13.8±5.1 mm, the AVT was 31.7±13.3 mm, and the LIV tilt was 11.3±8.8 degrees. There was no difference between the early postoperative and the latest follow-up major curve Cobb angle, GCB deviation, AVT, or LIV tilt, indicating maintenance of correction. The mean blood loss was 23,75 mL (range, 800-45,00 mL). The mean operative time was 375.4 minutes (range, 262-491 min). The mean postoperative Scoliosis Research Society-22 patient-based outcome scores were 4.6±0.7 (out of 5). There were no instrumentation failures or permanent neurological deficits in this series. CONCLUSIONS: Pedicle screw instrumentation in OI scoliosis is safe and effective. Cement augmentation in these patients may help to increase the pedicle pull-out strength and decrease the screw failure rates, especially at the proximal and the distal ends of instrumentation.

Postoperative radiographs after pinning of supracondylar humerus fractures: are they necessary?

BACKGROUND: The purpose of this study was to evaluate the necessity of early postoperative radiographs after pinning of supracondylar humerus fractures by determining both the percentage of patients who displayed change in fracture fixation and whether these changes affected their outcome. METHODS: A series of 643 consecutive patients who underwent operative management of Gartland type II and III fractures at our institution between January 2002 and December 2010 were reviewed. Demographic data were obtained through chart review, including age, sex, extremity, fracture type, and mechanism. Intraoperative fluoroscopic images were compared with postoperative radiographs to identify changes in fracture alignment and pin placement. RESULTS: A total of 643 patients (320 females, 323 males) with a mean age of 6.1 years (range, 1.1 to 16.0) were reviewed. Fifty-seven percent of fractures were classified as type II and 43% were type III. The overall complication rate was 8.8% (57/643). Pin backout or fracture translation was seen in 32 patients (4.9%) at the first postoperative visit. All of these patients sustained type III fractures. One of these patients required further operative management. Patients with changes in pin or fracture alignment did not demonstrate a statistically significant difference in time to first postoperative visit (P=0.23), days to pin removal (P=0.07), or average follow-up time (P=0.10). Fracture severity did not correlate with change in alignment (P=0.952). No postoperative neurological complications were observed in patients with alignment changes. CONCLUSIONS: Mild alignment changes and pin migration observed in postoperative radiographs after pinning of supracondylar humerus fractures have little effect on clinical management parameters or long-term sequelae. Radiographs can therefore be deferred until the time of pin removal provided adequate intraoperative stability was obtained. LEVEL OF EVIDENCE: Level IV.

Reliability and necessity of computerized tomography in distal tibial physeal injuries.

OBJECTIVE: Complex distal tibial physeal fractures can be difficult to characterize on plain radiographs. The role of computed tomography (CT) scans in the evaluation and treatment decision of these injuries is unclear. We aimed to determine whether or not the addition of CT would improve the reliability of fracture classification and treatment decision. METHODS: Five independent observers evaluated 50 distal tibial physeal fractures on 2 separate occasions for Salter Harris (SH) classification and treatment decision (surgical/nonsurgical) using plain radiographs (round 1) and combination of radiographs and CT (round 2). During round 1, observers were asked if they would order a CT, and during round 2, they were asked if the CT was useful. These rounds were repeated at 2 to 4 weeks to assess intraobserver reliability. Statistical analyses were performed to assess inter and intraobserver reliability using Kappa coefficient (κ). RESULTS: Intraobserver reliability for SH classification showed substantial agreement, κ=0.76 and κ=0.80, respectively, during round 1 and 2. Interobserver agreement on the SH class was lower during round 1 and 2 (κ=0.67 and κ=0.57, respectively). There also was almost perfect intraobserver and interobserver agreement in the measurement of displacement at the fracture site during both rounds 1 and 2. Intraobserver reliability for treatment decision was substantial, κ=0.74 and κ=0.80, respectively, during round 1 and 2. However, interobserver agreement for treatment decision was moderate (κ=0.48) and fair (κ=0.36), respectively, during round 1 and 2. Surgeons indicated that they would like to order CT scans for 66% of the time in round 1, but the interobserver agreement as to who would best benefit from the CT was only fair (κ=-0.23). The main purpose of ordering the CT was to delineate fracture anatomy (55% of the time) and the observers felt CT would add to their treatment decision only 26% of the time. During round 2, 75% of time surgeons felt that CT scan was useful. CT was thought to be most useful in guiding screw placement (56% of the time) and not as useful (28% of time) for treatment decision making. CONCLUSIONS: Addition of CT in complex distal tibial physeal fractures did not increase interobserver reliability to classify the fracture or the treatment decision. Surgeons reported that the CT was most useful to plan screw placement and changed their treatment decision in about a fifth of the cases.

Consistency between emergency department and orthopedic physicians in the diagnosis and treatment of distal fibular Salter Harris I fractures.

OBJECTIVE: The objective was to determine diagnostic and management differences between emergency physicians (EPs) and orthopedic physicians (OPs) for patients with distal fibular physis pain without radiographic fracture. METHODS: Records from patients with emergency department ankle radiographs between January 2006 and March 2008 were reviewed. Inclusion criteria included trauma, fibular physis pain, normal radiographs, and orthopedic follow-up. RESULTS: Of 1343 patients, 247 met criteria. Emergency physician diagnoses included Salter Harris (SH) I fracture 198 (80%), sprain 5 (2%), other fracture 24 (10%), or other injury 20 (8%). Orthopedic physician diagnoses included SH I fracture 136 (55%), sprain 48 (19%), other fracture 56 (23%), or other injury 7 (3%). Emergency physicians were more likely to diagnose SH I fracture (P = 0.01). Thirty-six patients diagnosed with SH I fracture by EPs were diagnosed by OPs with different fractures, whereas 40 had sprains and 5 had other injuries. A total of 173 (70%) patients were diagnosed with fractures by both EPs and OPs. On the basis of orthopedists diagnosis, EPs did not diagnose 19 (8%) fractures (P = 0.8). EP treatment included splint 157 (64%), boot 82 (33%), air cast 3 (1%), or cast 5 (2%). Orthopedic physician's treatment included splint 2 (1%), boot 46 (19%), air cast 11 (4%), cast 167 (67%), or none 21 (9%). CONCLUSIONS: Although EPs diagnosed SH I fracture more frequently than OPs, few fractures were missed. Most patients required ongoing immobilization by OPs regardless of final diagnosis. Suspected SH I fractures should be immobilized and referred for orthopedic evaluation.

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.

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.

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.

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.

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.