The role of 99mTc-DPD bone SPECT/CT in the management of growth disturbance of the long bones in pediatric patients: a retrospective observational study.

BACKGROUNDS: Determining the precise localization of diseased physes is crucial for guiding the treatment of growth disturbances. Conventional radiography, computed tomography (CT), and magnetic resonance imaging only provide information on physeal anatomy. Planar bone scintigraphy and bone single-photon emission computed tomography (SPECT) resolutions are suboptimal for clinically managing growth disturbances. Bone SPECT/CT, which provides high-resolution functional information, can be a useful tool for evaluating growth disturbances. The purposes of this study were to identify the conditions in which bone SPECT/CT outperforms planar scintigraphy or SPECT for evaluating the location and activity of diseased physes and to assess surgical outcomes using bone SPECT/CT findings in pediatric patients experiencing long bone growth disturbances. METHODS: Fifty-nine patients who underwent bone SPECT/CT between January 2018 and January 2021 to evaluate physeal activity using technetium-99 m-labeled 2,3-dicarboxypropane-1,1-diphosphonate (99mTc-DPD) were included. The proportions of patients for whom certain modalities provided sufficient data for selecting treatment plans for growth disturbances were compared based on the site of the diseased physis, growth disturbance cause, and shape of deformity (i.e., SPECT/CT vs. planar scintigraphy and SPECT/CT vs. SPECT). For assessing surgical outcomes, progression of post-surgical deformity was investigated by measuring the angles reflecting the degree of deformity, iliac crest height difference, or ulnar variance on radiographs. RESULTS: Bone SPECT/CT was sufficient for selecting a treatment plan, but planar scintigraphy or SPECT alone was insufficient in every 10 patients with diseased physes inside the femoral head (p = 0.002) and in every six with physes that were severely deformed or whose locations were unclear on conventional radiography (p = 0.03). In the proximal or distal tibia, where the tibial and fibular physes often overlapped on planar scintigraphy due to leg rotation, bone SPECT/CT was sufficient in 33/34 patients (97%), but planar scintigraphy and SPECT were sufficient in 10/34 (29%) (p < 0.001) and 24/34 (71%) patients, respectively (p = 0.004). No progression or deformity recurrence occurred. CONCLUSIONS: Bone SPECT/CT may be indicated in proximal femoral growth disturbance, when the physis is unclear on conventional radiography or severely deformed, the leg exhibits rotational deformity, or the patient is noncompliant.

Effect of Leg Length Discrepancy on Lateral Center-edge Angle Measurement.

BACKGROUND: In patients with leg length discrepancy (LLD) and consequent pelvic obliquity, either the longitudinal axis of the pelvis or a line perpendicular to the ground may be used as the longitudinal reference line for measuring the lateral center-edge angle (LCEA). We aimed to (1) systematically inspect which longitudinal reference line has been used for measuring the LCEA in previous studies; (2) evaluate the frequency of change in the radiographical classification of acetabular overcoverage or undercoverage per the longitudinal reference line; and (3) validate the trigonometric method, predicting the change in the LCEA according to the LLD. METHODS: Studies investigating the LCEA published between January 1976 and July 2019 in the MEDLINE database were categorized according to the longitudinal reference line used. Further, in a retrospective analysis of 238 patients surgically treated for LLD, the LCEA was first measured on standing pelvic radiographs using the longitudinal axis of the pelvis (pLCEA) and measured again using a line perpendicular to the ground (gLCEA). Femoral head coverage was categorized as undercoverage, normal, or overcoverage based on the pLCEA and gLCEA. The theoretically calculated difference between the pLCEA and gLCEA (dLCEA) as determined using a trigonometric method was compared with the dLCEA measured on radiographs. RESULTS: Of 229 previous studies, 188 did not specify the longitudinal reference line. The number of patients who were diagnosed with acetabular overcoverage using the pLCEA and gLCEA was one and fourteen, respectively (P<0.001). The number of patients who were diagnosed with acetabular undercoverage using the pLCEA and gLCEA was one and zero, respectively (P=1.000). There was no difference (P=0.433) between the theoretically calculated (9±5 degrees) and measured (9±5 degrees) dLCEAs. CONCLUSIONS: The definition of the longitudinal reference line should be clarified when measuring the LCEA. The trigonometric method can accurately predict the change in the LCEA according to LLD in concentric hips without proximal femoral and pelvic deformities. LEVEL OF EVIDENCE: Level IV-diagnostic study.

Pseudo-Protrusio Acetabular Deformity in Osteogenesis Imperfecta Patients.

BACKGROUND: Osteogenesis imperfecta (OI) can develop a protrusio acetabuli deformity. However, the authors observed a pseudo-protrusio-type acetabular deformity (PPAD) on 3-dimensional computed tomography (3D-CT). Hence, we systematically reviewed 3D-CT and pelvis radiographs of OI patients and report the incidence and patterns of acetabular deformity in OI patients and the associated radiographic signs. METHODS: The study included 590 hips of 295 OI patients, who were older than 5 years, and did not have a pelvic fracture. The incidence of a deformed acetabulum (center-edge angle >40 degrees) and its correlation with disease severity were investigated. In 40 hips for which 3D-CT was available, 3-dimensional morphology of the acetabular deformity was analyzed to delineate PPAD. On plain radiographs, PPAD-related signs were determined, focusing on the contour of ilioischial line, iliopectineal line, acetabular line, and their relationship. These radiographic signs were also evaluated in the remaining hips with deformed acetabula that did not have 3D-CT. RESULTS: One hundred twenty-three hips of 590 hips (21%) showed deformed acetabula. The incidence of deformed acetabula was significantly associated with disease severity (P<0.001). Three-dimensional analysis showed that 10 hips had protrusio acetabuli, whereas 17 had PPAD, which showed that the hemipelvis was crumpled, the acetabular roof was rotated upwardly and medially, and the hip center migrated superiorly, uncovering the anterior femoral head. Among the PPAD-related signs, superomedial bulging of the iliopectineal line was the most predictive radiographic sign (73% sensitivity and 100% specificity). This sign was also observed in almost one third of deformed acetabula of those investigated only with plain radiographs. CONCLUSIONS: This study showed that acetabular deformity is common in OI patients and is associated with disease severity. A substantial number of hips showed PPAD, which may not cause femoroacetabular impingement but result in anterior uncovering of the hip joint. Superomedial bulging of the iliopectineal line suggests this pattern of acetabular deformity. LEVEL OF EVIDENCE: Lever IV-prognostic studies.

Which Acetabular Landmarks are the Most Useful for Measuring the Acetabular Index and Center-edge Angle in Developmental Dysplasia of the Hip? A Comparison of Two Methods.

BACKGROUND: The acetabular index and center-edge angle are widely used radiographic parameters. However, the exact landmarks for measuring these parameters are not clearly defined. Although their measurement is straightforward when the lateral osseous margin of the acetabular roof coincides with the lateral end of the acetabular sourcil, where these two landmarks disagree, recommendations have differed about which landmark should be used. Using a radiographic parameter with high reliability for predicting residual hip dysplasia helps avoid unnecessary treatment. QUESTIONS/PURPOSES: We aimed to (1) compare two landmarks (the lateral osseous margin of the acetabular roof and the lateral end of the acetabular sourcil) for measuring the acetabular index and center-edge angle with respect to intraobserver and interobserver reliability and the predictability of residual hip dysplasia in patients with developmental dysplasia of the hip (DDH) and (2) evaluate longitudinal change in the acetabular edge's shape after closed reduction with the patient under general anesthesia. METHODS: Between February 1985 and July 2006, we performed closed reduction with the patient under general anesthesia as well as cast immobilization in 116 patients with DDH. To be included in this study, a patient had to have dislocated-type DDH. We excluded patients with a hip dislocation associated with neuromuscular disease, arthrogryposis, or congenital anomalies of other organs or systems (n = 9); hips that underwent osteotomy within 1 year since closed reduction (n = 8); hips that underwent open reduction because of re-dislocation after closed reduction (n = 4); and hips with Type III or IV osteonecrosis according to Bucholz-Ogden's classification (n = 4). Ninety-one patients were eligible. We excluded 19% (17 of 91) of the patients, who were lost to follow-up before they were 8 years old, leaving 81% (74 of 91 patients) with full preoperative and most-recent data. Ninety-seven percent (72 patients) were girls and 3% (two patients) were boys. The mean ± standard deviation age was 14.0 months ± 6.4 months (range 3-40 months) at the time of closed reduction and 12.1 years ± 2.3 years (range 8.0-16.0 years) at the time of the latest follow-up examination, the duration of which averaged 11 years ± 2.2 years (range 6.5-15.4 years). To investigate whether longitudinal change in the acetabular edge's shape differed among hips with DDH, contralateral hips, and control hips, we identified control participants after searching our hospital's database for patients with a diagnosis of congenital idiopathic hemihypertrophy from October 2000 to November 2006 who had AP hip radiographs taken at 3 years old and then at older than 8 years. From 29 patients who met these criteria, we randomly excluded two male patients to match for sex because girls were predominant in the DDH group. We excluded another female patient from the control group because of a hip radiograph that revealed unacceptable rotation. Eventually, 26 patients were assigned to the control group. Control patients consisted of 24 girls (92%) and two boys (8%). The demographic characteristics of control patients was not different from those of 67 patients with unilateral DDH, except for laterality (left-side involvement: 64% [43 of 67] in the DDH group versus 38% [10 of 26] in the control group; odds ratio 1.7 [95% confidence interval, 1.0-2.8]; p = 0.035). The acetabular index and center-edge angle at 3 years old were measured using the lateral osseous margin of the acetabular roof (AIB and CEAB) and the lateral end of the acetabular sourcil (AIS and CEAS). The treatment outcome was classified as satisfactory (Severin Grade I or II) or unsatisfactory (Grade III or IV). The intraclass correlation coefficient (ICC) was used to compare the intraobserver and interobserver reliability of each method. We compared the predictability of residual hip dysplasia of each method at 3 years old as a proxy using the area under the receiver operating characteristic (AUC) curve. To evaluate longitudinal change in the acetabular edge's shape, we compared the proportion of hips showing coincidence of the two landmarks between 3 years old and the latest follow-up examination. To investigate whether the longitudinal change in the acetabular edge's shape differs among hips with DDH, contralateral hips, and control hips, we compared the proportion of coincidence among the three groups at both timepoints. RESULTS: Intraobserver and interobserver reliabilities were higher for the CEAB (ICC 0.96; 95% CI, 0.94-0.98 and ICC 0.88; 95% CI, 0.81-0.92, respectively) than for the CEAS (ICC 0.81; 95% CI, 0.70-0.88 and ICC 0.69; 95% CI, 0.55-0.79, respectively). The AIB (AUC 0.88; 95% CI, 0.80-0.96) and CEAB (AUC 0.841; 95% CI, 0.748-0.933) predicted residual hip dysplasia better than the AIS (AUC 0.776; 95% CI, 0.67-0.88) and CEAS (AUC 0.72; 95% CI, 0.59-0.84) (p = 0.03 and p = 0.01, respectively). The proportion of hips showing coincidence of the two landmarks increased from 3 years old to the latest follow-up examination in hips with DDH (37% [25 of 67] to 81% [54 of 67]; OR = 8.8 [95% CI, 3.1-33.9]; p < 0.001), contralateral hips (42% [28 of 67] to 85% [57 of 67]; OR = 16.5 [95% CI, 4.2-141.9]; p < 0.001), and control hips (38% [10 of 26] to 88% [23 of 26]; OR = 14 [95% CI, 2.1-592.0]; p = 0.001). The proportion of coincidence in hips with DDH was not different from that in the contralateral hips and control hips at both timepoints. CONCLUSIONS: Measuring the acetabular index and center-edge angle at 3 years old using the lateral osseous margin of the acetabular roof has higher reliability for predicting residual hip dysplasia than that using the lateral end of the acetabular sourcil in patients with DDH treated with closed reduction. Measuring the acetabular index and center-edge angle at an early age using the lateral end of the sourcil may lead to overdiagnosis of residual hip dysplasia and unnecessary treatment. LEVEL OF EVIDENCE: Level III, diagnostic study.

Overgrowth of the lower limb after treatment of developmental dysplasia of the hip: incidence and risk factors in 101 children with a mean follow-up of 15 years.

Background and purpose - There are few studies on overgrowth of the affected limb after treatment of developmental dysplasia of the hip (DDH). We investigated the incidence of overgrowth and its risk factors in DDH patients.Patients and methods - 101 patients were included in this study. Overgrowth was defined by 2 criteria: when the height of the femoral head of the affected side was higher than that of the contralateral side by more than 10 mm, or by more than 15 mm. The potential risk factors of distinct overgrowth were retrospectively examined using multivariable analysis.Results - When overgrowth was defined as femoral head height difference (FHHD) > 10 mm, its incidence was 44%, and only femoral osteotomy was identified as a significant risk factor with a relative risk (RR) of 1.6 (95% confidence interval [CI] 1.0-2.5). When overgrowth was defined as FHHD > 15 mm, its incidence was 23%, and femoral osteotomy was identified as the only significant risk factor with an RR of 2.3 (CI 1.2-4.5). Overgrowth developed more frequently in patients who underwent femoral osteotomy at the age of 2 to 4 years (87%) than in the others (46%) (p = 0.04).Interpretation - Overgrowth of the affected limb is common in DDH patients. Patients who underwent femoral osteotomy, especially at the age of 2 to 4 years, may require careful follow-up because of the substantial risk for overgrowth.

Mycobacterium bovis Osteitis Following Immunization with Bacille Calmette-Guérin (BCG) in Korea.

BACKGROUND: Mycobacterium bovis Bacille Calmette-Guérin (BCG) osteitis, a rare complication of BCG vaccination, has not been well investigated in Korea. This study aimed to evaluate the clinical characteristics of BCG osteitis during the recent 10 years in Korea. METHODS: Children diagnosed with BCG osteitis at the Seoul National University Children's Hospital from January 2007 to March 2018 were included. M. bovis BCG was confirmed by multiplex polymerase chain reaction (PCR) in the affected bone. BCG immunization status and clinical information were reviewed retrospectively. RESULTS: Twenty-one patients were diagnosed with BCG osteitis and their median symptom onset from BCG vaccination was 13.8 months (range, 6.0-32.5). Sixteen children (76.2%) received Tokyo-172 vaccine by percutaneous multiple puncture method, while four (19.0%) and one (4.8%) received intradermal Tokyo-172 and Danish strain, respectively. Common presenting symptoms were swelling (76.2%), limited movement of the affected site (63.2%), and pain (61.9%) while fever was only accompanied in 19.0%. Femur (33.3%) and the tarsal bones (23.8%) were the most frequently involved sites; and demarcated osteolytic lesions (63.1%) and cortical breakages (42.1%) were observed on plain radiographs. Surgical drainage was performed in 90.5%, and 33.3% of them required repeated surgical interventions due to persistent symptoms. Antituberculosis medications were administered for a median duration of 12 months (range, 12-31). Most patients recovered without evident sequelae. CONCLUSION: Highly suspecting BCG osteitis based on clinical manifestations is important for prompt management. A comprehensive national surveillance system is needed to understand the exact incidence of serious adverse reactions following BCG vaccination and establish safe vaccination policy in Korea.

Physeal and Subphyseal Distraction Osteogenesis in Atrophic-type Congenital Pseudarthrosis of the Tibia: Efficacy and Safety.

PURPOSE: To examine the efficacy, safety, and clinical outcomes of distraction osteogenesis through the physis (PDO) or through subphyseal osteotomy (SPDO) in patients with atrophic-type congenital pseudarthrosis of tibia with proximal tibial dysplasia. METHODS: To validate the efficacy and safety of PDO and SPDO, radiographic and clinical parameters were compared between 5 patients who underwent proximal tibial metaphyseal or metadiaphyseal lengthening as a control (group 1) and 7 patients who underwent PDO or SPDO (group 2). Postoperative complication was also compared between the groups. RESULTS: A significant difference in terms of healing index (group 1, 83.3±24.7 d/cm; group 2, 35.0±11.1 d/cm; P=0.001) and percentage increase (11.0%±3.7% vs. 23.1%±10.5%, P=0.034) was observed between the 2 groups. According to the Paley classification, group 1 included 1 "problems" case and 3 "obstacles" cases, whereas group 2 included 2 "problems" cases and 1 "obstacles" case. According to the Lascombes classification, group 1 included 2 grade IIIb cases and 3 grade IV cases, whereas group 2 included 6 grade I cases and 1 grade IIa case. Severe complications were significantly higher in group 1 compared with the group 2 (P=0.007). CONCLUSIONS: This study demonstrated that PDO or SPDO can be effectively and safely performed for tibial lengthening in atrophic-type congenital pseudarthrosis of tibia patients with proximal tibial dysplasia. LEVEL OF EVIDENCE: Level III.

In Vivo Response of Growth Plate to Biodegradable Mg-Ca-Zn Alloys Depending on the Surface Modification.

Because Mg-Ca-Zn alloys are biodegradable and obviate secondary implant removal, they are especially beneficial for pediatric patients. We examined the degradation performance of Mg-Ca-Zn alloys depending on the surface modification and investigated the in vivo effects on the growth plate in a skeletally immature rabbit model. Either plasma electrolyte oxidation (PEO)-coated (n = 18) or non-coated (n = 18) Mg-Ca-Zn alloy was inserted at the distal femoral physis. We measured the degradation performance and femoral segment lengths using micro-CT. In addition, we analyzed the histomorphometric and histopathologic characteristics of the growth plate. Although there were no acute, chronic inflammatory reactions in either group, they differed significantly in the tissue reactions to their degradation performance and physeal responses. Compared to non-coated alloys, PEO-coated alloys degraded significantly slowly with diminished hydrogen gas formation. Depending on the degradation rate, large bone bridge formation and premature physeal arrest occurred primarily in the non-coated group, whereas only a small-sized bone bridge formed in the PEO-coated group. This difference ultimately led to significant shortening of the femoral segment in the non-coated group. This study suggests that optimal degradation could be achieved with PEO-coated Mg-Ca-Zn alloys, making them promising and safe biodegradable materials with no growth plate damage.

Dual Interlocking Telescopic Rod Provides Effective Tibial Stabilization in Children With Osteogenesis Imperfecta.

BACKGROUND: Interlocking telescopic rods for the management of osteogenesis imperfecta (OI)-related long bone fractures are a modification of the Sheffield rod. An interlocking pin anchors the obturator at the distal epiphysis, which spares the distal joint, while a T-piece anchors the sleeve at the proximal epiphysis. However, these devices are associated with some problems, including failure to elongate and difficulty with removal. A dual interlocking telescopic rod (D-ITR), in which the sleeve and the obturator are anchored with interlocking pins, was developed to address these problems. QUESTIONS/PURPOSES: In this study, we compared the D-ITR with an older version of a single interlocking telescopic rod (S-ITR) based on (1) surgery-free survival and rod survival; (2) cessation of rod elongation and elongated length of the rod; and (3) risk of refracture and complications related to the interlocking telescopic system. METHODS: This article compares the D-ITR with the S-ITR using a historically controlled, single-surgeon, retrospective design comparing two implants for the management of fractures in children with OI. Before August 2007, we exclusively used the S-ITR (n = 17 patients, 29 tibiae); from July 2008 until October 2014, we exclusively used the D-ITR (n = 17 patients, 26 tibiae). During the 1-year transition period, we performed five of these procedures (two S-ITR in two patients and three D-ITR in three patients), and implant use was based on availability with our preference being the D-ITR during that time when it was available. The general indications for use of both devices were the same: patients with OI and a tibial fracture who were older than 3 to 4 years of age and whose tibial canals were wide enough to accept an intramedullary rod. Younger patients were treated other ways (generally without surgery) and those with narrower canals with thinner, nonelongating rods or Kirschner wires, as indicated. All patients in both groups were available for followup at a minimum of 2 years (mean ± SD, 9.6 ± 3.0 years in the S-ITR group and 5.3 ± 2.1 years in the D-ITR group) except for one patient in the D-ITR group who died > 1 year after the procedure resulting from reasons unrelated to it. For the between-group comparison, we used only the followup data collected up to the ninth postoperative year in the S-ITR group. The truncated followup period of the S-ITR group was a mean of 5.0 ± 1.6 years. The mean age in the S-ITR group was 7 years (range, 3-12 years) and it was 8 years (range, 3-14 years) in the D-ITR group. There were nine boys and 10 girls in each group. Two orthopaedic surgeons other than the operating surgeon performed chart review to address our three research purposes. Survival analyses were performed using the Kaplan-Meier method. The overall pooled risk of refracture and major complications potentially associated with the interlocking telescopic rod system was compared between the groups. RESULTS: With the numbers available, there were no differences between the D-ITR and the S-ITR in terms of mean surgery-free survival time (5.7 [95% confidence interval {CI}, 4.5-6.9] versus 5.1 [95% CI, 4.1-6.1]; years; p = 0.653) or mean rod survival time (7.4 [95% CI, 6.4-8.4] versus 6.0 [95% CI, 5.1-6.9] years; p = 0.120). With the numbers available, cessation of elongation (4% in the D-ITR group versus 19% in the S-ITR group; p = 0.112) and elongated length (45.3 ± 24.3 mm in the D-ITR group versus 44.2 ± 22.3 mm in the S-ITR group; p = 0.855) also did not differ between the groups. The pooled proportions of refracture or complications after the index surgery were higher in the S-ITR group (25 tibias [81%]) than in the D-ITR group (15 tibias [54%]; p = 0.049). Eight tibias in the S-ITR group had proximal migration of the sleeve compared with no patients in the D-ITR group (p = 0.005). CONCLUSIONS: In patients with OI, the modified D-ITR provides effective tibial stabilization with similar or better results than the S-ITR design. Anchoring the sleeve at the proximal epiphysis with an interlocking pin provides better anchorage and allows easier removal. LEVEL OF EVIDENCE: Level III, therapeutic study.

Clinical and radiological outcomes of arthroscopically assisted cannulated screw fixation for tibial eminence fracture in children and adolescents.

BACKGROUND: The purpose of this study was to determine the efficacy and complications of arthroscopically assisted reduction and fixation with cannulated screws for tibial eminence fracture in skeletally immature patients. METHODS: This was a retrospective case series study. Forty-eight patients who were skeletally immature at the time of tibial eminence fracture were treated in a tertiary children's hospital between May 2004 and August 2015. Twenty-one patients were excluded due to non-operative treatment (n = 10), other surgical treatments (n = 9), multiple fracture (n = 1), and follow-up < 1 year (n = 1). Twenty-seven knees of 27 patients were analyzed. Avulsed fragment was reduced arthroscopically. One to three cannulated screws (4.0 mm or 5.0 mm in diameter) were used for fixation. Passive knee motion was started in 3-4 weeks. Clinical outcomes were evaluated by Lysholm score, instability of the knee, and complications. Radiological outcomes including nonunion and malunion of the avulsed fragment and physeal growth disturbance were evaluated. RESULTS: Mean age at the time of surgery was 10.1 years (range, 6.2 to 13.8 years). Patients were followed up for a mean of 3.9 years (range, 1.0 to 7.6 years). Fracture types included type III (n = 13), type II (n = 12), and type IV (n = 2) according to Zaricznyj modification of Meyers and McKeever classification. Meniscus was entrapped in five patients. Six patients showed concomitant meniscal tear. Mean Lysholm score at the latest follow-up was 95 (range, 78 to 100). Joint instability was not observed in any patient except one (instability of 5-10 mm). All patients showed full range of knee motion except one (10 degrees of flexion contracture). Screw head impingement against intercondylar notch of the femur was observed in two patients during screw removal procedure. Five knees showed prominent tibial eminence without symptoms. The injured lower limb was longer than the contralateral normal side by a mean of 6.2 mm (range, - 4 to 18 mm). CONCLUSIONS: Arthroscopically assisted reduction and fixation with cannulated screws is an effective and safe surgical option for treating tibial eminence fracture with few complications.

Percutaneous medial hemi-epiphysiodesis using a transphyseal screw for caput valgum associated with developmental dysplasia of the hip.

BACKGROUND: The purpose of this study was to evaluate the radiologic outcome of percutaneous medial hemi-epiphysiodesis using a transphyseal screw for the management of caput valgum associated with developmental dysplasia of the hip (DDH). METHODS: Eighteen hips (18 patients) having caput valgum treated with screw hemi-epiphysiodesis were followed for more than 2 years, and were included in this study. The mean age at the time of the index operation was 8.3 years (range, 4.3 to 10.7 years) and age at the latest follow-up was 12.2 years (range, 9.4 to 16.4 years). The screw in 5 hips was changed into a longer one at postoperative 21.8 months (range, 14 to 29 months) because the proximal femur outgrew the screw. The screws in 11 hips were removed at the mean age of 10.9 years (range, 8.0 to 14.5 years). We retrospectively analyzed the change in various radiologic parameters over time. RESULTS: The mean Hilgenreiner-epiphyseal angle (HEA) of the operated side was 5.1 ± 11.3° preoperatively, and increased to 20.6 ± 11.3° at the latest follow-up (p = 0.001). The mean difference of the HEA between the operated and contralateral sides was 16.9 ± 15.1° preoperatively, which decreased to 2.4 ± 12.4° at the latest follow-up (p = 0.008). The mean articulo-trochanteric distance of the operated side, which was 3.2 ± 5.5 mm longer than that of the contralateral side preoperatively, became 5.6 ± 9.1 mm shorter at the latest follow-up (p = 0.001). The ratio of femoral neck length of the operated side to that of the contralateral side decreased over the follow-up period. Acetabular shape as measured by the Sharp angle and acetabular roof angle and femoral head coverage as measured by lateral center-edge angle did not change significantly by the index operation. The ratio of medial joint space width of the operated side to that of the contralateral side did not change significantly. CONCLUSIONS: Screw medial hemi-epiphysiodesis can effectively correct caput valgum associated with DDH. However, this technique remains coxa brevis and does not seem to significantly affect acetabular morphology or reduce subluxation.

Risk Factors for Femoral Head Deformity in the Early Stage of Legg-Calvé-Perthes Disease: MR Contrast Enhancement and Diffusion Indexes.

PURPOSE: To determine whether changes in diffusion and/or contrast enhancement are of prognostic value in the early stage of Legg-Calvé-Perthes disease (LCPD). MATERIALS AND METHODS: This study was approved by the institutional review board, and written informed consent was obtained from patient parents. Diffusion and contrast agent-enhanced magnetic resonance (MR) imaging studies were performed in 46 children (37 boys and nine girls; mean age, 7.5 years [age range, 3.3-11.9 years]) with unilateral LCPD at the early stage before development of extensive femoral head deformity. The degree of contrast enhancement was measured on the contrast-enhanced MR images, and the apparent diffusion coefficient (ADC) value was measured on the ADC map at various regions of interest in the proximal femur. The association of the MR imaging parameters that compared the affected side with the contralateral normal side with the femoral head deformity index value above 0.3 at 2 years was investigated. RESULTS: Increased diffusion in the metaphysis (P = .003) and decreased contrast enhancement in the central epiphysis (P = .034) were the significant prognostic indicators of subsequent femoral head deformation. ADC in the metaphysis 45% higher and a contrast enhancement in the central epiphysis 37% lower than those of the contralateral normal side are associated with a nonfavorable prognosis. For diffusion MR imaging, sensitivity was 83% (15 of 18), specificity was 86% (24 of 28), positive predictive value was 79% (15 of 19), negative predictive value was 89% (24 of 27), and accuracy was 85% (39 of 46). For contrast-enhanced MR imaging, sensitivity was 78% (14 of 18), specificity was 64% (18 of 28), positive predictive value was 58% (14 of 24), negative predictive value was 82% (18 of 22), and accuracy was 70% (32 of 46). CONCLUSION: Diffusion and contrast-enhanced MR imaging are potentially useful to assess risk of later development of femoral head deformity.

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.

PURPOSE: The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia. METHODS: A total of 185 patients either diagnosed with or suspected to have skeletal dysplasia were recruited over a period of 3 years. TES was performed for 255 genes associated with the pathogenesis of skeletal dysplasia, and candidate variants were selected using a bioinformatics analysis. All candidate variants were confirmed by Sanger sequencing, correlation with the phenotype, and a cosegregation study in the family. RESULTS: TES detected "confirmed" or "highly likely" pathogenic sequence variants in 74% (71 of 96) of cases in the assured clinical diagnosis category and 20.3% (13 of 64 cases) of cases in the uncertain clinical diagnosis category. TES successfully detected pathogenic variants in all 25 cases of previously known genotypes. The data also suggested a copy-number variation that led to a molecular diagnosis. CONCLUSION: This study demonstrates the feasibility of TES for the molecular diagnosis of skeletal dysplasia. However, further confirmation is needed for a final molecular diagnosis, including Sanger sequencing of candidate variants with suspected, poorly captured exons.Genet Med 18 6, 563-569.

Femoral overgrowth in children with congenital pseudarthrosis of the Tibia.

BACKGROUND: Having observed a tendency towards femoral overgrowth (FO) of the affected limb in children with atrophic-type congenital pseudarthrosis of the tibia (CPT), we aimed to identify the incidence of, contributors to, and patterns of FO among such children. METHODS: We retrospectively evaluated 55 children with CPT, 22 with prepseudarthrosis and 33 with atrophic-type CPT from 1989 to 2012. FO was defined as an affected femoral segment ≥10 mm longer than the contralateral segment. We investigated FO incidences in prepseudarthrosis versus atrophic-type CPT. Sex, laterality, coexistence of neurofibromatosis type 1, development of frank pseudarthrosis, extent of tibial shortening, shortening in foot height, deformity severity, distraction osteogenesis (DO) treatment, refracture, increased femoral neck-shaft angle, tibiofemoral angle, and ankle valgus angle were investigated to identify potential contributors to FO. Patterns of FO were also determined. RESULTS: At initial presentation, 11 patients exhibited a mean of 13 mm (10-23) of FO. However, the nature of FO changed over time during the follow-up period (mean, 10.8 years; range, 4.3-19.3). At the last follow-up, 14 patients presented with a mean of 12 mm (10-18) of FO. With the exception of one patient, all patients with FO presented with atrophic-type CPT. Frank pseudarthrosis, DO treatment, and increased femoral neck-shaft angle were significantly associated with FO (p = 0.016, p = 0.001, and p = 0.005, respectively). Diverse patterns of FO were observed. CONCLUSIONS: FO of the affected limb is frequently encountered in patients with atrophic-type CPT. A compensatory response to frank pseudarthrosis, DO treatment, and neurofibromatosis may play a role in the diverse patterns of FO.

Beam Projection Effect in the Radiographic Evaluation of Ankle Valgus Deformity Associated With Fibular Shortening.

BACKGROUND: Fibular shortening is one of the most common causes of ankle valgus deformity in children, and is frequently observed in patients with hereditary multiple exostoses (HME). It has been observed that the lateral distal tibial angle (LDTA) measured on the teleoradiograph differs from that on the ankle anteroposterior (AP) radiograph. The effect of the beam projection angle in the measurement of ankle valgus deformity associated with fibular shortening in HME patients was investigated. METHODS: Fourteen ankles showing valgus deformity associated with fibular shortening from 14 HME patients comprised the short fibula group. Nineteen ankles with normal ankle alignment from 19 patients comprised the control group. The LDTA on the AP radiograph, teleoradiograph, and 3 coronal planes of 3-dimensional computed tomographic scans were measured and compared. RESULTS: In the short fibula group, the LDTA measured on the ankle AP radiograph was significantly larger than that on the teleoradiograph (79.6±4.3 vs. 75.0±6.2 degrees, P=0.001), whereas there was no significant difference in the control group (P=0.36). In the short fibula group, the LDTAs measured on the 3 coronal planes of 3-dimensional computed tomography showed that the ankle valgus measurement significantly increased from anterior to posterior planes (P=0.001), whereas there was no significant difference in the control group (P=0.85). CONCLUSIONS: Measurement of ankle valgus deformity depends on the direction of beam projection and ankle valgus deformity is more severe in the posterior coronal plane of the ankle joint. This discrepancy should be taken into consideration in the planning of ankle valgus deformity management. LEVEL OF EVIDENCE: Level IV-diagnostic.

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation; the causative mutation involved in this disease has not been discovered yet. Using linkage analysis in a four-generation family and whole-exome sequencing, we identified a heterozygous mutation of c.-14C>T in the 5'-untranslated region of a gene encoding interferon-induced transmembrane protein 5 (IFITM5). It completely cosegregated with the disease in three families and occurred de novo in five simplex individuals. Transfection of wild-type and mutant IFITM5 constructs revealed that the mutation added five amino acids (Met-Ala-Leu-Glu-Pro) to the N terminus of IFITM5. Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V.

Clinical and radiological features and skeletal sequelae in childhood intra-/juxta-articular versus extra-articular osteoid osteoma.

BACKGROUND: To compare the clinical and radiological features of intra-/juxta-articular osteoid osteoma and extra-articular osteoid osteoma in skeletally immature patients, paying special attention to the skeletal complications. METHODS: Osteoid osteoma in 34 children (22 boys and 12 girls, mean age 10.4 years) was dichotomized according to the location of the nidus as intra-/juxta-articular (11 children) or extra-articular (23 children). The following features were compared: diagnostic delay, typical symptoms, synovitis and limited range of joint motion, response to treatment, typical radiographic findings, and skeletal complications. RESULTS: Eight of the 11 children with intra-/juxta-articular osteoid osteoma presented with synovitis in the involved joint, which led to a delayed diagnosis for a median 9.5 months. Pain disappeared in all children with surgical or medical interventions, but at the mean 4.9-year follow-up evaluation, skeletal abnormalities around the joint were noted in 5 children (4 proximal femur and 1 distal humerus) with intra-/juxta-articular osteoid osteoma, 2 of whom required subsequent surgeries for limited hip motion caused by femoroacetabular impingement and limited range of elbow motion, respectively. In contrast, typical clinical and radiological features were observed more often in extra-articular osteoid osteoma, and only 1 child showed overgrowth of the tibia, which did not have clinical significance. CONCLUSIONS: Intra-/juxta-articular osteoid osteomas in growing children exhibit different clinical and radiological features from extra-articular lesions. Skeletal abnormalities mainly develop in intra-/juxta-articular osteoid osteoma, and these may lead to permanent skeletal sequelae.

Arthroscopic Treatment for Symptomatic Discoid Meniscus in Children: Midterm Outcomes and Prognostic Factors.

PURPOSE: To investigate the clinical and radiologic outcomes and prognostic factors of arthroscopic partial meniscectomy with or without suture repair of the remnant rim and subtotal meniscectomy in children with discoid menisci. METHODS: We retrospectively reviewed all consecutive patients aged younger than 18 years who underwent arthroscopy between 2003 and 2012, excluding patients with follow-up less than 2 years, concomitant injuries, underlying diseases, or a lost videotape. Patients were grouped by treatment method: partial meniscectomy with or without suture repair and subtotal meniscectomy. Clinical outcomes were determined based on symptoms, complications, and Lysholm scores. Degenerative changes were assessed radiologically. Risk factors for a lower Lysholm score were investigated. RESULTS: Of 100 knees (86 patients; mean age, 10.7 years), 87 underwent partial meniscectomy with (n = 42) or without (n = 45) suture repair and 13 underwent subtotal meniscectomy. The Lysholm score at a mean of 4.7 years (range, 2.0 to 10.9 years) improved to more than 90, regardless of meniscectomy method (P = .767; 95% confidence interval [CI], -5.1 to 6.9) or the addition of suture repair (P = .797; 95% CI, -3.5 to 4.6). Early degenerative changes were found in 11 knees. Patients aged younger than 10 years at surgery had a 2.37 times higher chance of having excellent Lysholm scores (P = .032; 95% CI, 1.1 to 5.1). A reoperation history was associated with lower Lysholm scores with a marginal significance (P = .054; 95% CI, -0.9 to 12.3). CONCLUSIONS: Arthroscopic partial meniscectomy with stabilization of the unstable remnant rim was effective in preserving knee function with few early degenerative changes during the midterm follow-up period. Subtotal meniscectomy appears to be a valid treatment for unsalvageable cases. There was no difference in outcomes among the partial meniscectomy, partial meniscectomy with suture repair, and subtotal meniscectomy groups. Less satisfactory functional outcomes may follow in children aged 10 years or older or when a reoperation has been performed. LEVEL OF EVIDENCE: Level IV, therapeutic case series.

Proximal migration of femoral telescopic rod in children with osteogenesis imperfecta.

BACKGROUND: Intramedullary telescopic rod fixation has been used for stabilization of the long bones in growing children who have osteogenesis imperfecta. Proximal migration of the rod is the most common complication of telescopic rodding in the femur. The purposes of this study were to evaluate incidence and temporal pattern of proximal migration of the femoral rod, and to investigate factors related to it. METHODS: A total of 50 patients with osteogenesis imperfecta, who had femur stabilized by telescopic rod with T-piece, were the subjects of this study. In patients having both the femora stabilized, only 1 femur was randomly selected for analysis. Hence, in 50 femora, migration-free survivorship was analyzed using the Kaplan-Meier method, and association with possible risk factors was analyzed by Cox regression analysis using the proportional hazards model. Factors investigated in the analysis include age at the time of surgery, sex, purpose of the index surgery, residual or developing angular deformity of the femur, rod position at the distal physis, persistent cortical gap at fracture/osteotomy site, Sillence classification, and type of telescopic rod. RESULTS: Proximal migration was observed in 7 of 50 femora. Cumulative survival without proximal migration was 0.94 (95% CI, 0.87-1.01) in 1 year, and 0.85 (95% CI, 0.75-0.95) in 6 years. Factors significantly associated with proximal rod migration in Kaplan-Meier survivorship analysis and univariate Cox regression analysis were angular deformity, eccentric rod position at the distal physis, and persistent cortical gap. When these factors were analyzed by multivariate analysis, eccentric rod position at the distal physis was the only significant factor with a hazard ratio of 11.74. CONCLUSIONS: The risk of proximal rod migration can be reduced by complete correction of angular deformity and optimal placement of the rod at the distal physis. Our data also suggest that developing angular deformity or persistent osteotomy/fracture gap requires special attention at the possibility of proximal rod migration during follow-up. LEVEL OF EVIDENCE: Level III, prognostic study.

Recurrence of equinus foot deformity after tendo-achilles lengthening in patients with cerebral palsy.

BACKGROUND: Recurrence of equinus deformity after surgery is common in patients with cerebral palsy. This retrospective study was undertaken to estimate the recurrence rate of the equinus deformity after tendo-Achilles lengthening (TAL) in patients with cerebral palsy and to investigate the risk factors associated with the recurrence. METHODS: Two-hundred forty three ambulatory patients with cerebral palsy, who underwent TAL for equinus foot deformity since 1995, and had undergone a preoperative and postoperative 3-dimensional gait analysis, were included. Cox proportional hazards model was used to determine the significant contributing factor for the recurrence of equinus foot deformity. RESULTS: The mean patient age at surgery was 7.8±2.7 years and the mean follow-up duration was 8.1±3.4 years. Equinus deformity recurred in 22 of the 243 patients (9.1%) and the Kaplan-Meier survival estimate was shown to be 89.4% at 10 years not needing repeat surgery. According to the multivariate analysis using the Cox proportional hazard model, preoperative ankle dorsiflexion at initial contact (P=0.016) was the only significant factor for recurrence of equinus deformity after surgery. Age at surgery and the type of limb involvement were not associated with the recurrence (P=0.433 and 0.269). The cutoff values of preoperative gait kinematics between the nonrecurrence and recurrence groups were -19 degrees of ankle dorsiflexion at initial contact (P=0.018). CONCLUSIONS: This study showed that the severity of preoperative equinus deformity was a risk factor associated with recurrence after TAL in patients with cerebral palsy. Therefore, surgeons should consider the recurrence and later revision surgery for the patients with severe equinus foot deformity. LEVEL OF EVIDENCE: Therapeutic level III.