Epiphyseal Involvement Research Articles

Management of traumatic fracture-dislocation of the shoulder in children: A systematic review of published case reports

Proximal humerus fracture with simultaneous shoulder dislocation in children is a rare occurrence, with few reported cases. This systematic review of case reports aimed to document the outcomes of different treatment methods. A comprehensive literature search from 1980 to 2024 included case reports on traumatic shoulder fracture-dislocation in children. Eighteen studies were included, with a mean follow-up of 1.5 years. The cases comprised 7 boys and 11 girls, aged between 11 months and 16 years (median 6 years). The cases were divided into two groups based on epiphyseal involvement. Group A had 11 cases (61%) with epiphyseal involvement, while Group B had 7 cases (38%) with metaphyseal fractures without epiphyseal involvement. Treatments included closed or open reduction, with or without internal fixation. All fractures healed in an average of 7 weeks, with full function restored in an average of 21.58 weeks. The review suggests that open reduction with K-wire fixation is optimal for Group A, whereas closed reduction with intramedullary fixation is more effective for Group B, offering satisfactory clinical and radiological results in a shorter time efficiently.

Comparison of epoprostenol and viscum album efficiencies in the treatment of avascular necrosis of the femoral head: An experimental animal study.

The aim of our study is to compare the efficacy of epoprostenol and viscum album in the treatment of femoral head avascular necrosis with an experimental study. Our hypothesis is that viscum album, which has similar properties to epoprostenol on the vascular system, is as effective as epoprostenol in the treatment of avascular necrosis. Avascular necrosis was created on the femoral heads of 45 New Zealand type rabbits by surgical vascular deprivation method. The rabbits were divided into 3 groups. Group 1 was designed as a control group, in group 2 Ilomedin (epoprostenol analogue) was administrated to subjects and in group 3, Helixor (viscum album extract) was administrated. At the end of the study, there were nine subjects in each group. Osteocyte necrosis, bone marrow necrosis, new bone formation and cartilage degeneration were evaluated microscopically. The extent of bone necrosis and repair and involvement of epiphysis, the bone marrow cellularity ratio and trabecular bone volume were investigated. Subchondral necrosis was seen in more animals in the control group (p=0.03). Osteoblastic and osteoclastic activity were more prominent in the Ilomedin group (p=0.25 and 0.07, respectively). It was seen that the cartilages of the subjects in the Helixor and Ilomedin groups were less damaged. In the Ilomedin group, more animals were seen in the chronic phase of the repair process than in the other groups (p=0.07). Bone marrow cellularity was higher in treatment groups (22% and 20,6% for Ilomedin and Helixor, respectively, p=0,04). Trabecular volume was found to be increased in damaged femoral heads in the treatment groups, the highest increased observed in the Helixor group (p=0.01). Viscum album seems to be effective in decreasing the extention of necrosis and protecting the articular cartilage, and epoprostenol in increasing repair and regeneration.

Intercalary Resection of the Tibia for Primary Bone Tumors: Are Vascularized Fibula Autografts With or Without Allografts a Durable Reconstruction?

Intercalary Resection of the Tibia for Primary Bone Tumors: Are Vascularized Fibula Autografts With or Without Allografts a Durable Reconstruction?

Can conventional magnetic resonance imaging at presentation predict chemoresistance in osteosarcoma?

Histological tumour necrosis is the current indicator for the response of osteosarcoma after neoadjuvant chemotherapy. Chemoresistant tumours require close monitoring and adjustment of treatment. Characteristics of tumours on baseline MRI may be able to predict response to chemotherapy. The aim is to identify which baseline MRI findings can help predict chemoresistant osteosarcoma. Baseline MRI before giving neoadjuvant chemotherapy of 95 patients during 2008-2021 was reviewed by 2 musculoskeletal radiologists. Histological necrosis from surgical specimens was the reference standard. MRIs were reviewed for tumour characteristics (tumour volume, maximum axial diameter, central necrosis, haemorrhage, fluid-fluid level), peritumoural bone and soft tissue oedema, and other parameters including intra-articular extension, epiphyseal involvement, neurovascular involvement, pathologic fracture, and skip metastasis. The cut-off thresholds were generated by receiver operating characteristic curves which then tested for diagnostic accuracy. Two-third of patients were chemoresistance (histological necrosis <90%). Tumour volume >150 mL, maximum axial diameter >7.0 cm, area of necrosis >50%, presence of intra-articular extension, and peritumoural soft tissue oedema >6.5 cm significantly predicted chemoresistance, particularly when found in combination. Tumour volume >150 mL and maximum axial diameter >7.0 cm could be used as an independent predictor (multivariable analysis, P-value = .025, .045). Findings on baseline MRI could help predicting chemoresistant osteosarcoma with tumour size being the strongest predictor. Osteosarcomas with large size, large cross-sectional diameter, large area of necrosis, presence of intra-articular extension, and extensive peritumoural soft tissue oedema were most likely to have a poor response to neoadjuvant chemotherapy.

MR features of primary bone lymphoma in children.

Primary lymphoma of bone is an uncommon non-Hodgkin lymphoma. Magnetic resonance imaging (MRI) features of primary lymphoma of bone in children are not well described. To identify typical MRI characteristics of pediatric primary lymphoma of bone at diagnosis and following treatment. Two pediatric radiologists retrospectively reviewed all imaging studies of 10 patients with biopsy-proven primary lymphoma of bone at presentation and after treatment. Anatomic location, number of sites, location within bone (epiphyseal, metaphyseal, diaphyseal), T1-weighted imaging margins, soft tissue mass, T2-weighted imaging appearance and enhancement pattern (homogeneous, heterogeneous, infarct-like), soft tissue edema, cortical disruption, and regional lymph nodes as seen on MRI as well as radiographic and positron emission tomography (PET) findings were recorded. Pathologic results, treatment plans, and outcomes at follow-up as detailed in the medical record were tabulated. Of 10 patients, age at diagnosis 8-17 years, median 15 years, 4 (40%) had multifocal disease. MRI revealed 20 total lesions in the 10 patients with femoral lesions most common, being present in7 (70%) ofpatients. Eight (80%) patients had at least one lesion around the knee. Eight (80%) patients had 1 or more lesions involving an epiphysis and 5 (50%) had at least 1 lesion confined to the epiphysis. Seven (70%) showed infarct-like appearance on T2-weighted imaging; 7 (88%) of the 8 patients with post-contrast imaging had infarct-like enhancement. Six (60%) had sharp T1 margins, 3 (30%) had cortical disruption, 8 (80%) had at least mild soft tissue edema, and 1 (10%) had soft tissue mass. Three (30%) had at least 1 PET-positive regional lymph node. At follow-up (range 1-108 months, median 4.3 months), all had residual osseous abnormality on MRI with 6 (60%) maintaining an infarct-like or combination of infarct-like and T2 hyperintense appearance. Our results in this series of pediatric primary lymphoma of bone identified several frequent MR imaging features. Multifocality, epiphyseal involvement (especially about the knee), infarct-like enhancement pattern, sharp T1 margins, and surrounding soft tissue edema should raise suspicion for primary lymphoma of bone. Following treatment, residual osseous abnormality is expected on MRI.

Nonossifying Fibroma Involving Epiphysis of Long Bone-Case Report and Review of the Literature.

Nonossifying fibroma (NOF) is a common benign bone neoplasm and is usually observed in the first 2 decades of life. Most NOFs occur in the metaphysis of long bones of the lower extremities and migrate toward the diaphysis during skeletal maturation. Epiphyseal involvement by NOF has been rarely reported, with only one case found in the English literature. The authors report the second case of NOF involving the epiphysis of a long bone, the proximal tibia of a 21-year-old woman. Clinicians and pathologists should be aware of the rare possibility of epiphyseal involvement of long bones by this condition. Pathologists should select appropriate immunohistochemistry markers to rule out alternative diagnoses.

Outcome Prediction Model Following Proximal Femoral Osteotomy in Legg-Calvé-Perthes Disease Using Machine Learning Algorithms.

The purpose of the current study was (1) to analyze various factors that may be associated with the outcomes of Legg-Calvé-Perthes disease (LCPD), and (2) to develop and internally validate machine learning algorithms capable of providing patient-specific predictions of which patients with LCPD will achieve relevant improvement in radiologic outcomes after proximal femoral varus osteotomy (PFVO). We examined several variables, previously identified as factors, that may influence the outcome of LCPD and developed a machine learning algorithm based on them. In this retrospective study, we analyzed patients aged older than 6 years at the time of LCPD diagnosis who underwent PFVO at our institution between 1979 and 2015. Univariate and multivariate logistic regression analyses were used to examine the effects of variables on the sphericity of the femoral head at skeletal maturity, including age at onset, sex, stage at operation, extent of epiphyseal involvement and collapse, presence of specific epiphyseal, metaphyseal, and acetabular changes, and postoperative neck shaft angle (NSA). Recursive feature selection was used to identify the combination of variables from an initial pool of 13 features that optimized the model performance. Five machine learning algorithms [extreme gradient boosting (XGBoost), multilayer perception, support vector machine, elastic-net penalized logistic regression, and random forest) were trained using 5-fold cross-validation 3 times and applied to an independent testing set of patients. Ninety patients with LCPD who underwent PFVO were included in this study. The mean age at diagnosis was 7.93 (range, 6.0 to 12.33) years. The average follow-up period was 10.11 (range, 5.25 to 22.92) years. A combination of 8 variables, optimized algorithm performance, and specific cutoffs were found to decrease the likelihood of achieving the 1 or 2 Stulberg classification: age at onset ≤ 8.06, lateral classification ≤ B, 12.40 < preoperative migration percentage (MP) ≤ 22.85, Catterall classification ≤ 2, 117.4 < postoperative NSA ≤ 122.90, -10.8 < postoperative MP ≤ 6.5, 139.65 < preoperative NSA ≤ 144.67, and operation at stage 1. The XGBoost model demonstrated the best performance (F1 score: 0.78; area under the curve: 0.84). The XGBoost machine learning algorithm achieved the best performance in predicting the postoperative radiologic outcomes in patients with LCPD who underwent PFVO. In our population, age at onset ≤ 8.06, lateral classification ≤ B, 12.40 < preoperative MP ≤ 22.85, Catterall classification ≤ 2, 117.4 < postoperative NSA ≤ 122.90, -10.8 < postoperative MP ≤ 6.5, 139.65 < preoperative NSA ≤ 144.67, and operation at an early stage had the likelihood of achieving the spherical femoral head for the patients with LCPD that underwent PFVO. After external validation, the online application of this model may enhance shared decision-making. Level III-retrospective cohort study.

Does joint-sparing tumor resection jeopardize oncologic and functional outcomes in non-metastatic high-grade osteosarcoma around the knee?

BackgroundWe previously reported joint-sparing tumor resection for osteosarcoma with epiphyseal involvement in which transepiphyseal osteotomy went through the in situ ablated epiphysis. However, we do not know whether this is a safe approach when compared with joint-sacrificed tumor resection. Our objective was to compare oncologic and functional outcomes between patients who underwent joint preservation (JP) and joint replacement (JR) tumor resection. Furthermore, we identified the risk factors of local recurrence, metastasis and survival.MethodsEighty-nine patients with non-metastatic high-grade osteosarcoma around the knee were treated with limb-salvage surgery (JP in 47 and JR in 42). Age, gender, tumor location, pathologic fracture, plain radiographic pattern, limb diameter change, perivascular space alteration, surgical margin, local recurrence, metastasis, death, and the Musculoskeletal Tumor Society (MSTS)-93 scores were extracted from the records. Univariate analysis was performed to compare oncologic and functional outcomes. Binary logistic and cox regression models were used to identify predicted factors for local recurrence, metastasis, and survival.ResultsLocal recurrence, metastasis and overall survival were similar in the JP and JR group (p = 0.3; p = 0.211; p = 0.143). Major complications and limb survival were also similar in the JR and JP group (p = 0.14; p = 0.181). The MSTS score of 27.06 ± 1.77 in the JP group was higher than that of 25.88 ± 1.79 in the JR group (p = 0.005). The marginal margin of soft tissue compared with a wide margin was the only independent predictor of local recurrence (p = 0.006). Limb diameter increase and perivascular fat plane disappearance during neoadjuvant chemotherapy were independent predictors for metastasis (p = 0.002; p = 0.000) and worse survival (p = 0.000; p = 0.001).ConclusionsJoint-sparing tumor resection with the ablative bone margin offers advantage of native joint preservation with favorable functional outcomes while not jeopardizing oncologic outcomes compared with joint-sacrificed tumor resection. Surgeon should strive to obtain adequate soft tissue surgical margin decreasing risk of local recurrence. Novel drug regimens might be reasonable options for patients with obvious limb diameter increase and perivascular fat disappearance during chemotherapy.

P43 A complicated road to diagnosis: Auto inflammatory bone disease

Introduction/BackgroundAuto inflammatory bone disorders are characterized by chronic non-infectious osteomyelitis and inflammation-induced bone resorption. It results from aberrant activation of components of the innate immune system. The auto inflammatory bone disorder includes chronic non-bacterial osteomyelitis (CNO) and its severe form chronic recurrent multifocal osteomyelitis (CRMO); synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome; Majeed syndrome; deficiency of interleukin-1 receptor antagonist (DIRA) and cherubism. The most common among this is CRMO/CNO. The disease can affect any part of the body but the metaphyseal region of the long bones, clavicle, and vertebra are the most commonly affected site.Description/MethodA 9 year old girl presented with five month history of swelling over right periocular and temporal region, associated with skin discoloration and difficulty in opening her eyes. She also reported headache more in the right frontal region. She had on and off exacerbations of skin discoloration and headaches. There was no history of fevers, weight loss, night sweats, skin lesions or arthritic symptoms. She did not have a personal or family history of inflammatory or autoimmune disorders. She is under ophthalmology elsewhere since the age of 3 months with a right divergent squint and history of right squint surgery at 6 years.Physical examination revealed swelling involving right infraorbital and temporal region, which was soft and not tender to touch with associated erythema in the same site. There were no signs of meningism or altered mental status. Musculoskeletal examination was unremarkable.Her blood test results showed mild increase in platelets (476 * 109), CRP 8mg/L, ESR (18mm/hr). IgG4 titres were mildly raised (1.16g/L). Other immunologic markers including rheumatoid factor, human leukocyte antigen B27, antinuclear antibody and anti-neutrophil cytoplasmic antibody were normal.Histopathological examination of bone and soft tissue of her right orbital rim showed low grade non-specific chronic inflammation with extensive appositional remodelling of bone suggestive of CRMO/SAPHO. No evidence of malignancy/infection.Later whole body MRI was performed to identify the extent of disease. MRI whole body was performed which showed multiple areas of bone marrow oedema and periostitis within the appendicular and axial skeleton, bilateral gluteal enthesitis and sacroilitis. There are some features that are atypical for CRMO (asymmetrical involvement, transphyseal involvement including epiphyseal involvement of the left humerus). Also noted to have right-sided periorbital oedema, oedema of the right masticator muscles and temporalis. Further planned to do dedicated MRI of left humerus with contrast.Discussion/ResultsIt can be difficult to consider what the problem is when a health care provider is presented with a group of seemingly disparate signs and symptoms with a history and time course that do not match classic (or commonly atypical) disease presentations. Common things happen commonly, so when symptoms occur without the usual co-occurring symptoms, unusual symptoms or time courses, it can be challenging.The current patient presented with periocular swelling with headache and skin discolouration. The differentials can be Langerhans cell histiocytosis, IgG4-related disease, osteoblastoma, and osteosarcoma. There were no hepatosplenomegaly, lymphadenopathy, also the mass was soft to palpate, and hence the above differentials were unlikely. Patient was initially evaluated at tertiary oncology centre and malignancy ruled out. The histopathology slides were reviewed and reported as mentioned above. In view of no skin manifestations, CRMO was the likely diagnosis considered. Hence MRI whole body performed.Barrani et al reported a similar type of unusual case of a 12-year-old girl with CRMO arising with recurrent episodes of left supraorbital headache, followed by the appearance of a periorbital dyschromia. Magnetic resonance imaging (MRI) of the skull and orbits revealed an important subacute inflammatory process. However, a few months later, the child presented a painful swelling of the left clavicle; the histological examination of the related biopsy allowed us to establish the diagnosis of CRMO.The follow up with our patient is quite a short duration and she might evolve later in the disease course giving more clarity!Key learning points/ConclusionIn evaluating a diagnostic dilemma, starting the laboratory evaluation helps to begin the process of trying to find an answer and can also help the families as “something is being done.”Chronic recurrent multifocal osteomyelitis can present with unifocal lesions, atypical locations or absence of recurrence.A high level of suspicion is paramount to avoid unnecessary biopsies and repeated antibiotic regimens.Families will often be quite concerned and support for them is also necessary and close communication and follow up is appropriate.

Fate of hips complicated by avascular necrosis of the femoral head following reconstructive surgery in nonambulatory patients with cerebral palsy

The purpose of this study was to evaluate the influence of avascular necrosis of the femoral head (AVN) following hip reconstructions on the future hip development of cerebral palsy (CP) patients. A retrospective study of 394 hips in 205 nonambulatory patients with spastic CP who underwent reconstructive hip surgery was performed. The mean age at surgery was 7.3 ± 2.4 years. The mean follow-up duration was 5.6 ± 2.7 years, and the mean age at the latest follow-up was 12.8 ± 3.4 years. AVN was classified in terms of its severity and location. Femoral head remodelling was assessed by the spherical index and the Mose circle. An unsatisfactory radiological outcome was defined as having a migration percentage of more than 30% at the final follow-up. AVN was observed in 169 (42.9%) hips. Older age at the time of surgery, higher preoperative migration percentage, and open reduction procedures were predictors for the development of AVN. Hips with AVN confined to the lateral epiphysis, and AVN involving the entire epiphysis with preserved height experienced successful remodelling. 27 (65.9%) of the 41 hips with unsatisfactory outcomes experienced AVN. Younger age, higher postoperative migration percentage, and occurrence of AVN were related to unsatisfactory outcomes. The highest incidence of failed remodelling and unsatisfactory outcomes were observed in hips with entire epiphyseal involvement and more than 50% loss of its height. AVN following hip reconstructions is not necessarily associated with poor hip development, however, depending on the severity and location, it is a prognostic factor for unsatisfactory radiological outcomes.

Effect of Postoperative Femoral Neck Shaft Angle on Femoral Head Sphericity Following Proximal Femoral Osteotomy in Legg-Calve-Perthes Disease.

Herein, we aimed to examine the relationship between the postoperative neck shaft angle (NSA) and the Stulberg outcome at skeletal maturity in patients with Legg-Calvé-Perthes disease (LCPD) who underwent proximal femoral varus osteotomy (PFVO) and to determine the optimal angle of varization. In this retrospective study, we analyzed the data of 90 patients aged older than 6 years at the time of diagnosis with LCPD who underwent PFVO at our institution between 1979 and 2014. Univariate and multivariate logistic regression analyses were used to examine the effects of variables on the sphericity of the femoral head at skeletal maturity, including the age at onset, sex, stage at operation, extent of epiphyseal involvement and epiphyseal collapse, presence of specific epiphyseal, metaphyseal, and acetabular changes, and postoperative NSA. The sphericity of the femoral head on the final plain follow-up radiographs of the hip joint at skeletal maturity was assessed using the Stulberg classification. Cases of spherical femoral head (Stulberg I or II) were rated as good, whereas those of ovoid or flat femoral head (Stulberg III, IV, or V) were rated as bad. The mean age at diagnosis was 7.93 (range, 6.0-12.33) years. The average follow-up period was 10.11 (range, 5.25-22.92) years. The pre and postoperative mean NSAs were 137.31±6.86 degrees (range, 115.7-158 degrees) and 115.7±9.83 degrees (range, 88.6-137.6 degrees), respectively. The age at diagnosis, lateral pillar classification, and postoperative NSA were found to be closely related to the sphericity of the femoral head at skeletal maturity. Patients with a postoperative NSA of <105 degree or more than 125 degree were less likely to have a spherical femoral head. Our study showed that patients with a postoperative NSA between 105 and 125 degrees were more likely to have a spherical femoral head. When performing PFVO in patients with LCPD, reasonable varus angulation of PFVO should be taken into consideration for the success of the operation. Level III retrospective cohort study.

Whole-body magnetic resonance imaging findings and patterns of chronic nonbacterial osteomyelitis in a series of Greek pediatric patients.

Background:Chronic nonbacterial osteomyelitis (CNO) is a pediatric autoinflammatory disorder presenting with sterile inflammatory bone lesions. Whole-body MRI (WBMRI) has most recently emerged for disease assessment, but data are limited.Purpose:The purpose is to evaluate the imaging findings and patterns of CNO on WBMRI in a series of Greek pediatric patients.Material and Methods:Whole-body magnetic resonance imaging studies of all children with documented CNO, performed in a single tertiary center, were retrospectively reviewed. WBMRI included coronal T1 and short-tau inversion recovery (STIR), whole spine sagittal STIR, and ankle/foot sagittal STIR images. High signal intensity lesions on STIR images corresponding to bone marrow edema were recorded. The SPSS v.20 statistical package was used for descriptive statistics.Results:Twenty children were included (mean age: 12, range: 6–16 years) with 1–31 lesions (mean: 11.8) on WBMRI. Two children had unifocal disease localized at the clavicle, three paucifocal (1–4 lesions), and 15 multifocal bone involvement. All but two children presented with ankle pain and exhibited lesions at the bones of the ankle joint (90%) followed by the knee (50%) and pelvis (10%). The tibia was the most frequently affected bone (70%) followed by calcaneus (60%), fibula (50%), femur (45%), talus, and metatarsals (45%). No lesions in the cervical, thoracic, lumbar spine, and mandible were documented. Only small sacral lesions were seen in 25% of patients with the extensive peripheral disease. Bilateral metaphyseal and epiphyseal involvement with transphyseal extension were common, but the periosteal reaction and well-defined lesion margins were rare.Conclusion:Frequent involvement of the foot and ankle and paucity of substantial spinal involvement were seen in Greek pediatric patients with CNO.

Giant Cell Tumors of Bone in Patients Aged 18 Years Old or Younger: Imaging Features and Tumor Characteristics.

ObjectiveThe majority of giant cell tumors of bone (GCTB) occur in adult patients, especially between the ages of 20 and 40. This study aims to investigate the imaging features of GCTBs in pediatric patients and compare their characteristics with adult cases.MethodsFifty-seven cases of patients aged 18 years old or younger were retrospectively analyzed, accounting for 12.8% of GCTBs in the First Affiliated Hospital of Zhengzhou University from 2001 to 2019. One hundred twenty-six adult patients (19 years of age and older) with GCTB occurring in long tubular bones were also included in this study. The following clinical information was identified from the medical records: age, sex, and follow-up data. Imaging features were reviewed by two musculoskeletal radiologists. Patient characteristics and imaging features between the two groups were compared.ResultsA total of 57 patients (32 females, 25 males) were included in the study. The patients’ ages ranged from 9 to 18 (median = 17 y). The majority of tumors occurred in tubular bones (n = 38, 66.7%) and the pelvis (n = 8, 14.0%). Imaging features were identified in GCTB cases occurring in the long tubular bones. Compared with adult GCTB patients, pediatric GCTB patients had a larger superior–inferior (SI) diameter (P = 0.005) and smaller left-to-right diameter/SI diameter ratio (P = 0.001). Epiphyseal involvement was relatively less common in pediatric patients with GCTBs than in adult patients (P = 0.009). The median age of patients without epiphyseal involvement was lower than the median age of patients with epiphyseal involvement (11 vs 17 y).ConclusionGCTB in the pediatric age group is rare. This study has found that, in pediatric patients with GCTBs, the epiphysis is relatively less involved, and the tumor is more likely to grow longitudinally. These findings are helpful in the diagnosis of GCTBs in the pediatric population.

Approach to Suspected Physeal Fractures in the Emergency Department.

Growth plate (physeal) fractures are defined as a disruption in the cartilaginous physis of bone with or without the involvement of epiphysis or metaphysis. These represent around 15-18% of all pediatric fractures. It is important to diagnose physeal injury as early as possible, as misdiagnosis or delay in diagnosis may result in long term complications. Physeal injuries may not be initially obvious in children who present with periarticular trauma, and a high index of suspicion is important for diagnosis. Differential diagnosis for a Salter-Harris fracture includes a ligamentous sprain, acute osteomyelitis, or an extraphyseal fracture such as a Torus fracture. Salter-Harris I & Salter-Harris II growth plate fractures commonly are commonly managed by closed manipulation, reduction & immobilization. These are relatively stable injuries and can be retained by adequate plaster. Salter-Harris III & Salter-Harris IV fractures require anatomical reduction with the maintenance of congruity of joint. Physeal fractures can have many complications such as malunion, bar formation, acceleration of growth of physis, posttraumatic arthritis, ligament laxity and shortening of the bone. The key to well-healing fractures is successful anatomic reduction and patients must have regular follow-up for these injuries.

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.

The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in COL2A1 can cause spondyloepiphyseal dysplasia congenita in two children. Here we report two additional families with homozygous variants, c.4135C>T (p.Arg1379Cys) and c.3190C>T (p.Arg1133Cys) in COL2A1 resulting in two distinct skeletal dysplasia phenotypes of intermediate severity. Though all six patients from four families exhibit a spondylo-epimetaphyseal dysplasia, they demonstrate a wide variation in severity of short stature and involvement of epiphyses, metaphyses, and vertebrae. We hypothesize that the variants are likely to be hypomorphic, given the underlying mechanisms of disease causation for known heterozygous variants in COL2A1. With this report, we provide further evidence to the existence of autosomal recessive Type 2 collagenopathy.

A de novo variant in MMP13 identified in a patient with dominant metaphyseal anadysplasia

Metaphyseal anadysplasia 1 (MIM# 602111) belongs to a heterogeneous group of skeletal diseases characterized by an autosomal dominant form of growth defects due to metaphyseal changes with epiphyseal involvement similar to other metaphyseal disorders. Matrix metalloproteinase 13 encoded by MMP13 presumably plays important roles in bone formation and growth, and pathogenic variants in MMP13 have been identified to cause metaphyseal anadysplasia 1. Only six pathogenic variants in MMP13 have been previously reported worldwide. The genotype-phenotype correlation of MMP13-related disorders has not been fully understood. Here we reported the identification of a previously unreported pathogenic heterozygous de novo variant NM_002427.3:c.212T > C/p.Met71Thr in MMP13 in a Chinese male pediatric patient with metaphyseal anadysplasia 1 and additional phenotypes, including mild rickets-like changes observed on upper long bone metaphyses and patchy bone defects on the spine vertebrae particularly resolved by childhood. Our findings not only expand genotype and phenotype spectrums of MMP13-related disorders but also offer further information for precise diagnosis and classification of metaphyseal anadysplasia disorders.

Height-Width Ratio of Proximal Femoral Epiphysis: Estimation of Lateral Pillar Involvement in Bilateral Perthes Disease.

The standard evaluation of epiphyseal involvement in Perthes disease is lateral pillar classification. However, it needs to be compared with contralateral normal hip leading to limited use in bilateral disease. We, therefore, develop a ratio between epiphyseal height and metaphyseal width of affected hips to estimate lateral pillar involvement. This study aimed to assess the height-width ratio of the proximal femoral epiphysis in non-Perthes children, and to find the relationship between the height-width ratio and lateral pillar classification in Perthes disease. A cross-sectional study was conducted between 2009 and 2015. Phase I included children aged 2 to 15 years who did not have Perthes disease. Phase II included children aged 2 to 15 years who had Perthes disease. Other abnormal proximal femoral epiphysis was excluded. Lateral pillar height and metaphyseal width were independently measured twice by 2 assessors in each phase. Intraobserver and interobserver levels of agreement, height-width ratio and cut-off points to differentiate lateral pillar types were determined. There were 69 children (87 hip radiographs) who had non-Perthes hips, and 18 boys with Perthes disease (20 hip radiographs). Height-width ratio in the non-Perthes group increased from 0.38 to 0.48 at 2 to 10 years of age and remained constant until maturity. Average height-width ratio in lateral pillar A/non-Perthes hip was 0.47±0.05, lateral pillar B or B/C 0.32±0.05, and lateral pillar C 0.18±0.05. Intraobserver and interobserver level of agreements of height-width ratio in Perthes disease were 0.007 (95% confidence interval, -0.030 to 0.043) and 0.006 (95% confidence interval, -0.119 to 0.107), respectively. Cut-off values to differentiate lateral pillar A and B or B/C was 0.40, and to differentiate lateral pillar B or B/C, and C was 0.25 with 90% accuracy and area under receiver operating characteristic curve of 0.9. Height-width ratio is useful for grading severity in unilateral and bilateral Perthes disease. It has excellent reliability and validity with exact cutoff values to estimate lateral pillar classification. Level II-diagnostic study.

Growth of epiphysis after epiphyseal-preservation surgery for childhood osteosarcoma around the knee joint

BackgroundEpiphyseal-preservation surgery for osteosarcoma is an alternative method which has been indicated carefully to selected patients. The tumor-devitalised autograft treated with liquid nitrogen procedure is one of the biological reconstruction method to reconstruct the defect after tumor excision. The limb length discrepancy is usually appeared in children with their growth after limb-sparing surgery. This study was aimed to investigated the growth of residual epiphysis following epiphyseal-preservation surgery for childhood osteosarcoma around the knee joint.MethodsWe retrospectively reviewed 12 patients with osteosarcoma who underwent epiphysis preserving tumor excision (8 in distal femur and 4 in proximal tibia) and reconstructed by using tumor-devitalized autograft treated with liquid nitrogen. The mean patient age was 11 (range, 6 to 14) years. The mean follow-up period were 63 (range, 41 to 90) months. Epiphysis transverse growth rate, epiphysis-width discrepancy (EWD) and collapse of epiphysis were evaluated by using pre- and post-operative whole standing leg radiographs. A retrospective chart review was performed to investigate functional outcome, complications and oncological status.ResultsThe mean growth of epiphysis rate was 12.6% (range, 3.3 to 28.0%) of affected side and 12.7% (range, 3.8 to 28.9%) of contralateral side, mean EWD was 0.1 mm (range, − 1.0 to 1.7 mm), mean LLD was + 26.1 mm (range, + 1 to + 48 mm) and two patients with distal femoral reconstruction underwent limb lengthening of tibia. There was no collapse of the residual epiphysis. The mean MSTS score was 27.7 (range, 18 to 30).ConclusionsEpiphysis transverse growth was not diminished, and there was absence of epiphyseal collapse even after epiphyseal-preservation surgery in this small series of childhood osteosarcoma around the knee. With careful assessment for epiphyseal tumor involvement, epiphyseal-preservation surgery shall be possible, and could be an alternative method worth considering.

Imaging features of Ewing's sarcoma: Special reference to uncommon features and rare sites of presentation.

Ewing's sarcoma (EWS) commonly involves long bones with a permeative pattern of bone destruction and aggressive interrupted periosteal new bone formation. However, radiological features show wide variation and some presentations are uncommon, leading to diagnostic confusion. This study is aimed at studying the imaging features of proven EWS and highlight the uncommon features and rare sites of presentation. The imaging findings of 100 consecutive histopathologically proven EWS were analyzed retrospectively. All uncommon presentations with respect to age and site and morphology of lesion were observed. Most of the patients were below 20 years of age and 8% were younger than 5 years. Other than long bones, ribs, and pelvis, other sites considered to be rare and were noted in 25%. Extraosseous site involvement was 11%. Uncommon features included epiphyseal involvement (4%), sclerosis (4%), expansion of bone (8%), sunray spiculation (10%), calcification in soft tissue (8%), saucerization (4%), pathological fracture (5%), fluid-fluid level (2%), vertebra plana (2%), and lesion crossing the joint (13%). The uncommon observations included incidence in children <5 years (8%) and occurrence in craniofacial bones, spine, scapula, and clavicles and in extraosseous sites such as retroperitoneum, adrenals, or extremity. Uncommon findings included epiphyseal involvement, sclerosis, saucerization, calcification in soft tissue component, and pathological fracture and lesion crossing the joint.

Корригирующая остеотомия бедра в комплексном лечении детей с болезнью Легга-Кальве-Пертеса

Objective Improve outcomes of complex treatment of children with Legg-Calve-Perthes disease. Material and methods Pre- and postoperative assessment of 90 patients with Legg-Calve-Perthes disease and severe epiphyseal involvement was reviewed. The age of the patients ranged from 6 years to 14 years. Corrective femoral osteotomy was performed for the patients who were followed up for 10 years. The patients were subdivided into two groups depending on the extent of bone coverage (EBC) of the femoral head straight after the surgery: group I (n = 60), EBC ≥ 1.0; group II (n = 30), EBC less 1.0. Results Regardless of the type of corrective femoral osteotomy group I showed positive clinical and radiological dynamics, and improved capital improvement, in particular; group II (archive material, cases who underwent surgery until 1998) demonstrated negative dynamics with considerably deformed femoral head. Conclusion Corrective femoral osteotomy remains the procedure of choice for patients with LCP disease, and femoral head remodeling can be provided with the extent of bone coverage index measuring one and over.