Short Bones Research Articles

Metatarsal Gradual Lengthening for Brachymetatarsia Using a Mini-rail External Fixator System.

To describe the surgical technique for gradual lengthening of the metatarsal using the Orthofix MiniRail System (Orthofix Medical Inc., Lewisville, TX, USA). Brachymetatarsia refers to the shortening of the metatarsal bone. When indicated, metatarsal lengthening is performed to treat this deformity. A dorsal approach to the short metatarsal is performed, protecting the neurovascular structures and the extensor tendons. The most proximal wire or screw is inserted first, followed by the most distal wire or screw. The distal wire or screw should not be inserted in the metatarsal head. The middle wires or screws are inserted thereafter. All wires or screws should be placed perpendicular to the anatomic axis of the bone. Once the MiniRail lengthener is assembled, a 1.6 mm K-wire is inserted from the tip of the toe into the metatarsal head, blocking the motion of the metatarsophalangeal joint and avoiding joint subluxation during lengthening. The osteotomy is then performed perpendicular to the metatarsal shaft, in between the middle two wires and screws. The surgical technique for gradual lengthening of the metatarsal using the Orthofix MiniRail System was described in detail with accompanying step-by-step intraoperative clinical and fluoroscopic images. This surgical technique of metatarsal lengthening is simple and effective. An understanding of the surgical technique of gradual lengthening of the metatarsal bone is important when treating shorting deformities of more than 1 cm. Marwan Y, Abu Dalu K, Bernstein M, et al. Metatarsal Gradual Lengthening for Brachymetatarsia Using a Mini-rail External Fixator System. Strategies Trauma Limb Reconstr 2022;17(3):184-188.

Clinical Outcome of Immediate Loading UV-Photofunctionalized Implants in Patients with Completely Edentulous Mandible, Placed with Guided Surgery.

The purpose of this study was to evaluate clinical results of immediate loading UV-photofunctionalized dental implants placed using guided surgery in patients with completely edentulous mandible. In this study, 58 fully edentulous patients were treated with immediate loading implant-supported mandibular prostheses. All patients underwent a thorough clinical examination according to the generally accepted scheme; qualitative and quantitative parameters of the jaw bones patients were diagnosed with cone beam computerized tomography (CBCT). Surgical templates modeled in the 3 Shape software were made from biocompatible polymeric materials and provided with depth-calibrated drill sleeves for preparing osteotomies using a 3D printer (Stratasys). Before short implant placement, ultraviolet functionalization of implant surfaces was performed by UV Activator YWJ-QSY001 (Foshan, Wenjian Medikal Enstriman) in the device for 20s. After flapless surgery, implant sockets were prepared with guided surgery and implants were placed through the sleeves of the surgical template tightening torque of 35-45 Ncm. An implant-supported temporary prosthesis made of acrylic resin was installed 6h after implantation. Final dental prosthetics was performed 2months after implant placement.The patients had 128 short (length 5-6mm, diameters 4,5-5mm) and 256 implants with length greater than 10mm in bone segments with sufficient bone parameters. The following parameters were assessed: implant success, prosthetics survival and changes in peri-implant marginal bone loss(MBL). During a clinical examination, no serious biological or prosthetic complications have been reported. The esthetic result evaluated from patients was excellent. The mean ISQ of short implants was 69.2 ± 8 for primary stability at implant placement and 73.6 ± 4 ISQ after 3months. The mean of implants with length greater than 10mm was 71,2ISQ at implant placement, respectively, and 75,6 ISQ after 3months. After 3months of prosthetic loading for short implants marginal bone loss (MBL) 0.74mm, after 1year of MBL 11.21mm, after 5years of MBL 1,37mm, for implants with length greater than 10mm after 3months of MBL 0.72mm, after 1year of MBL 1.19mm and after 5years of MBL 1.35. There was no statistically significant difference in clinical indices between short and standard implants. After 5years of follow-up, stable levels of bone tissue around the implants and healthy tissues around the implants were recorded, and postoperative occlusal function was favorable. The success rates of the short implants in maxilla were 95.5%, and the success rates of the short implants in mandible were 98.7%. The success rates of the implants with length greater than 10mm in maxilla were 97.8%, and the success rates of the implants with length greater than 10mm in mandible were 98.8%. Computer-guided implant surgery and immediate loading of UV-photofunctionalized implants in patients with completely edentulous mandible are a predictable and effective method with a minimum rehabilitation period.

Novel axial compressive endoprosthesis ACE can enhance metaphyseal fixation and facilitate osseointegration: A biomechanical study.

Background: Metaphyseal fixation for endoprosthetic reconstruction after bone tumor resection is difficult due to the short residual bone length and reverse funnel shape of the metaphysis. In the current study, 3D-printed axial compressive endoprosthesis (ACE) with a short stem and intramedullary axial compressive mechanism is proposed to improve metaphyseal fixation. The rationales of ACE are that 1) intramedullary axial compress enhances the stability of endoprosthesis and facilitates bone ingrowth at the osteotomy site; 2) 3D printed porous metallic surface at osteotomy surface and stem allows bone ingrowth to achieve osseointegration. Methods: A biomechanical study was performed to explore the initial stability using Sawbones. A diaphysis and metaphyseal segmental defect were created and four fixation structures were simulated: 1) ACE; 2) ACE + lateral plate; 3) stem prosthesis + unilateral plate; 4) stem prosthesis + bilateral plates. Bending and torsional stiffness were determined with a material testing machine. The relationship between the torque of the compression nut and the axial compression force of the bone-implant surface was measured using a round gasket load sensor. Results: ACE + lateral plate was the stiffest in the bending test (sagittal 324.3 ± 110.8N/mm, coronal 307.7 ± 8.7N/mm). ACE + lateral plate and stem prosthesis + bilateral plates had the highest torsional stiffness (10.9 ± 1.3Nm/° and 10.7 ± 0.2Nm/° respectively). The bending stiffness of ACE was equivalent to stem prosthesis + bilateral plates (sagittal 196 ± 10N/mm vs. 200 ± 7N/mm, coronal 197 ± 14N/mm vs. 209 ± 3N/mm), but the torsional stiffness of ACE was inferior to stem prosthesis + bilateral plates (6.1 ± 1.3Nm/° vs. 10.7 ± 0.2Nm/°). Stem prosthesis + unilateral plate was the least stiff both in bending and torsion. The relationship between torque (T/Nm) and axial pressure (F/N) was F = 233.5T. Conclusion: The axial compressive design of ACE enhances primary stability and facilitates osseointegration, which provides an alternative option of metaphyseal fixation for endoprosthetic reconstruction.

What's New in Musculoskeletal Tumor Surgery.

What's New in Musculoskeletal Tumor Surgery.

Acrodysostosis and pseudohypoparathyroidism (PHP): adaptation of Japanese patients with a newly proposed classification and expanding the phenotypic spectrum of variants.

ObjectiveThis study aimed to report on 15 Japanese patients with acrodysostosis and pseudohypoparathyroidism (PHP) and analyze them using the newly proposed classification of the EuroPHP network to determine whether this classification system is suitable for Japanese patients.DesignWe divided the patients into three groups based on hormone resistance, the number of fingers with short metacarpals, the existence of cone-shaped epiphyses and gene defects.MethodsWe carried out clinical, radiological and genetic evaluations of two patients in group A (iPPSD5), six patients in group B (iPPDS4) and seven patients in group C (iPPSD2).ResultsGroup A consisted of two siblings without hormone resistance who had the most severe bone and physical developmental delays. PDE4D gene defects were detected in both cases. Group B consisted of six patients who showed hormone resistance without hypocalcemia. Short metacarpal bones with corn-shaped epiphyses were observed in all patients. In two cases, PRKAR1A gene defects were detected; however, their clinical and radiological features were not identical. The facial dysmorphism and developmental delay were less severe and PRKAR1A gene defects were detected in case B-3. Severe facial dysmorphism and deformity of metacarpal bones were observed, but no gene defect was detected in case B-1. Group C consisted of seven patients with PHP1a, four of whom had maternally inherited heterozygous inactivating mutations in one of the GNAS genes. The clinical and radiological features of the patients in group C were not identical either.ConclusionsThe newly proposed classification is suitable for Japanese patients; however, heterogeneities still existed within groups B and C.

A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.

Spondylo-epi-metaphyseal dysplasias (SEMDs) are a clinically and genetically heterogeneous group of skeletal dysplasias characterized by short stature and abnormal modeling of the spine and long bones. A novel form of rhizomelic skeletal dysplasia, Ain-Naz type, associated with a homozygous variant in GNPNAT1 was recently identified. Herein, we report an Egyptian patient, offspring of consanguineous parents, who presented with a severe form of unclassified SEMD. Whole exome sequencing identified a novel homozygous variant in exon 3, c.77T>G, (p.Phe26Cys) in GNPNAT1, that was confirmed by Sanger sequencing and both parents were found to be heterozygous for the identified variant. Main features included severe short stature, rhizomelic limb shortening, and wide flared metaphysis. Short broad long bones, brachydactyly, delayed epiphyseal ossification of long bones, advanced bone age, and immunodeficiency were additional findings expanding the clinical phenotype described in the previously reported family. We conclude that variants in the GNPNAT1 gene cause an autosomal recessive form of SEMD resembling Desbuquois like dysplasia caused by PGM3, which is involved in the same pathway as GNPNAT1.

Role of Sonographic Second Trimester Soft Markers in the Era of Cell-Free DNA Screening Options: A Review

Soft markers are sonographic structural, nonspecific signs with little pathological significance, often transient, usually considered as normal variants. However, they may also be associated with chromosomal abnormalities. The most widely examined soft markers include absent or hypoplastic nasal bone (NB), intracardiac echogenic focus (IEF), ventriculomegaly (VM), thickened nuchal fold (NF), choroid plexus cyst (CPC), echogenic bowel, short long bones, and urinary tract dilation (UTD). Although the use of noninvasive prenatal testing (NIPT) has been spreading quickly in maternal–fetal medicine, it is not a diagnostic test and it still remains unavailable or cost-prohibitive for most of the population in many countries. After normal screening test results in the first trimester, there is no uniform consensus regarding the clinical significance of isolated soft markers for aneuploidy. Nowadays, the search for soft markers in an ultrasound is still part of clinical evaluation, and the interpretation of these findings is often a matter of debate. In the present review, we summarize the recent literature about the role of soft markers in the era of NIPT and propose an overview of the different clinical guidelines.

Dental Management of Fanconi Anemia: Two Case Reports

Fanconi Anemia (FA) is an extremely rare autosomal recessive disorder characterized by chromosomal break up that induces congenital abnormalities. FA results from a mutation in one of the 15 genes involved in the DNA repair pathway that is essential for the proper development of white blood cells, red blood cells, and platelets (Dental Perspective of Rare Disease of Fanconi Anemia (2). Some signs made up of a short stature, hyperpigmentation and bone marrow failure should suggest the diagnosis. In this paper we report two case reports of FA of in different ages who were followed in our Paediatric Dentistry Department in la Rabta Hospital and in which various classical signs were present. Comparing the different symptoms, we noticed that developmental and physical abnormalities are in common such as hyperpigmentation, short stature, skeletal abnormalities and some oral manifestations such as microdontia, periodontitis, and dental caries. Due to an increased risk of malignancies in this population, we have given emphasis on oral manifestations and the role of pediatric dentist in making early diagnosis and ensuring the maintenance of oral health for these patients.

SMANet: multi-region ensemble of convolutional neural network model for skeletal maturity assessment.

Bone age assessment (BAA) is a crucial research topic in pediatric radiology. Interest in the development of automated methods for BAA is increasing. The current BAA algorithms based on deep learning have displayed the following deficiencies: (I) most methods involve end-to-end prediction, lacking integration with clinically interpretable methods; (II) BAA methods exhibit racial and geographical differences. A novel, automatic skeletal maturity assessment (SMA) method with clinically interpretable methods was proposed based on a multi-region ensemble of convolutional neural networks (CNNs). This method predicted skeletal maturity scores and thus assessed bone age by utilizing left-hand radiographs and key regional patches of clinical concern. Experiments included 4,861 left-hand radiographs from the database of Beijing Jishuitan Hospital and revealed that the mean absolute error (MAE) was 31.4±0.19 points (skeletal maturity scores) and 0.45±0.13 years (bone age) for the carpal bones-series and 29.9±0.21 points and 0.43±0.17 years, respectively, for the radius, ulna, and short (RUS) bones series based on the Tanner-Whitehouse 3 (TW3) method. The proposed automatic SMA method, which was without racial and geographical influence, is a novel, automatic method for assessing childhood bone development by utilizing skeletal maturity. Furthermore, it provides a comparable performance to endocrinologists, with greater stability and efficiency.

ЭНХОНДРОМА И ХОНДРОСАРКОМА GI СТОПЫ (КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ)

Abstract. Among all neoplasms of the skeleton, enchondroma is 12%, among benign bone neoplasms - 10 - 27%. Frequent localization of enchondroma - short tubular bones of the hands and feet. It is possible to transform an enchondroma of the foot into a chondrosarcoma. Clinical guidelines with a sufficiently substantiated clear diagnostic and therapeutic tactics for enchondromas and chondrosarcomas of the first degree have not been developed to date. The aim of the study was to evaluate the effectiveness of intralesional resection with adjuvant chemical ablation in the treatment of enchondroma and chondrosarcoma of the first degree of the toe on a clinical example. Materials and Methods: A 64-year-old female patient with long-term symptoms on the side of the 5th toe of the right foot and a significant progression of these symptoms over the past three months underwent removal of the soft tissue component of the tumor of this finger, intralesional resection of its distal phalanx, and adjuvant chemical ablation. Healing by primary intention. According to the histological examination, the excised tissue corresponded to an enchondroma with areas of degeneration into grade I chondrosarcoma. Results: The patient was followed up for two years after the operation. There was no tumor recurrence. The patient did not experience pain, difficulty walking, considered herself practically healthy. Conclusion: the above clinical observation confirms that intralesional resection with adjuvant chemical ablation in the treatment of enchondroma and chondrosarcoma of the first degree of the foot allows to avoid relapses and ensure good function in the near and long term.

Axial skeletal morphological studies on the helmeted Guinea fowl (Numida meleagridis).

This study on the morphological features of bones of the helmeted guinea fowl (Numidia meleagridis) specifically the axial skeleton was conducted for documentation and valuable information on differences when compared with other species of the same order. Ten (10) Helmeted guinea fowls (5 females and 5 males) with an average weight of 3.0 kg were euthanized via jugular vein severance with bone preparation achieved via the use of insect larvae. The skull presented an elongated structure made up of paired and unpaired flat, short and long bones with distinctive features. The frontal bone projected caudodorsally to form a horn like structure, the frontal process at its middle while the vomer was absent. The cervical vertebrae were 14 in number starting from the first (Atlas) to the last vertebra without a rib. Specific distinguishing features were evident in the Atlas, Axis, 3rd to 5th, 6th to 11th and 12th to 14th cervical vertebrae. The thoracic vertebrae presented 7 bones comprising the 1st single free vertebra; notarium (fused 2nd to 5th), 6th single free vertebra and the last 7th vertebrae that fused with the synsacrum which was an ankylosis of the lumbar and sacral vertebrae. The caudal vertebrae were 7 with the last; the pygostyle being distinct in appearance. The ribs were 7 pairs, of which the first two were asternal while the remaining five were sternal and consisted of proximal vertebral and distal sternal portions. The curved uncinate process articulated to the caudal border of the 2nd and vertebral portions of the 3rd to 5th ribs. The guinea fowl proved to be a carinate by presenting a single sternum with dorsolateral processes and a ventral carina. In conclusion, this study revealed that except for the skull, the axial skeleton of the Helmeted Guinea fowl presented similarities to that of the domestic fowl (Gallus domesticus).

Изменение антиоксидантно/прооксидантного равновесия у пациентов с приобретенными укорочениями костей голени на этапах удлинения по Илизарову

Introduction Optimization of the conditions of distraction osteogenesis using the method of G.A. Ilizarov remains an important challenge to ensure a reduction in the number of complications and an increase in the effectiveness of this technology. The aim of the study was to study the changes in the antioxidant/prooxidant balance in patients with acquired shortening of the lower leg bones at the stages of the Ilizarov lengthening procedure. Methods The antioxidant/prooxidant status was studied in 12 patients with shortening of one of the lower legs resulting from hematogenous osteomyelitis (group 1) and in 13 patients with post-traumatic shortening of one of the lower legs (group 2). The level of peroxidation products, the activity of superoxide dismutase and vitamins E and A in the blood of these patients were assessed in the dynamics of monofocal bone lengthening using the Ilizarov method. Results It was found that in patients with acquired shortening of the shin bones, regardless of the shortening etiology, during surgical lengthening, an increase in the level of peroxidation products in the blood was observed with a decrease in the level of vitamin E and an increase in superoxide dismutase activity. Discussion The data obtained, together with the current findings from fundamental research, allow us to note that the use of antioxidants (AOs) in patients undergoing segment length correction using the Ilizarov technology is possible from two positions. 1. The positive effect of AOs in terms of stimulation of distraction osteogenesis has been proven. 2. AOs have a systemic effect in the regulation of the recovery processes in the paraosseous tissues of the limb segment under lengthening. Conclusion Peroxidation is activated in the course of surgical lengthening of the lower leg bones in patients with acquired shortenings, regardless of the shortening etiology. The use of antioxidants in such patients can specifically inhibit peroxidation, thereby reducing the risk of provoking bone formation disorders.

Reduced Bone Mass in Collagen Prolyl 4-Hydroxylase P4ha1 +/-; P4ha2 -/- Compound Mutant Mice.

ABSTRACTProper deposition of the extracellular matrix and its major components, the collagens, is essential for endochondral ossification and bone mass accrual. Collagen prolyl 4‐hydroxylases (C‐P4Hs) hydroxylate proline residues in the ‐X‐Pro‐Gly‐ repeats of all known collagen types. Their product, 4‐hydroxyproline, is essential for correct folding and thermal stability of the triple‐helical collagen molecules in physiological body temperatures. We have previously shown that inactivation of the mouse P4ha1 gene, which codes for the catalytic α subunit of the major C‐P4H isoform, is embryonic lethal, whereas inactivation of the P4ha2 gene produced only a minor phenotype. Instead, mice with a haploinsufficiency of the P4ha1 gene combined with a homozygous deletion of the P4ha2 gene present with a moderate chondrodysplasia due to transient cell death of the growth plate chondrocytes. Here, to further characterize the bone phenotype of the P4ha1 +/−; P4ha2 −/− mice, we have carried out gene expression analyses at whole‐tissue and single‐cell levels, biochemical analyses, microcomputed tomography, histomorphometric analyses, and second harmonic generation microscopy to show that C‐P4H α subunit expression peaks early and that the C‐P4H deficiency leads to reduced collagen amount, a reduced rate of bone formation, and a loss of trabecular and cortical bone volume in the long bones. The total osteoblast number in the proximal P4ha1 +/−; P4ha2 −/− tibia and the C‐P4H activity in primary P4ha1 +/−; P4ha2 −/− osteoblasts were reduced, whereas the population of osteoprogenitor colony‐forming unit fibroblasts was increased in the P4ha1 +/−; P4ha2 −/− marrow. Thus, the P4ha1 +/−; P4ha2 −/− mouse model recapitulates key aspects of a recently recognized congenital connective tissue disorder with short stature and bone dysplasia caused by biallelic variants of the human P4HA1 gene. Altogether, the data demonstrate the allele dose‐dependent importance of the C‐P4Hs to the developing organism and a threshold effect of C‐P4H activity in the proper production of bone matrix. © 2022 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.

GRK2, a novel regulator of skeletal development

STUDY OBJECTIVEDuring skeletal development, the cartilaginous growth plate (GP) allows for bone elongation, composed of chondrocytes organized into three histological zones: resting (RZ), proliferative (PZ), and hypertrophic (HZ). Resting chondrocytes proliferate, become prehypertrophic, then hypertrophic, to create room for bone deposition. The G‐protein coupled receptor (GPCR) Parathyroid Hormone Receptor‐1 (PTH1R) expressed on the chondrocytes of the prehypertrophic zone, decelerates the transition to hypertrophy. PTH1R signaling is regulated by GPCR kinase 2 (GRK2); GRK2 phosphorylates PTH1R leading to its internalization and signal termination. Recent studies showed that loss of function mutations in GRK2 result in skeletal deformities, and we demonstrated that GRK2 promotes chondrocyte hypertrophy (CH) in adult arthritic cartilage. However, the role of GRK2 in molecular signaling in GP chondrocytes has yet to be explored.HYPOTHESISWe hypothesized that GRK2 desensitizes PTH1R to promote CH in the GP.METHODSWe utilized the Cre‐Lox system to generate transgenic mice with inducible ‐conditional‐knockout of GRK2 (GRK2‐icKO) in chondrocytes. KO was initiated at postnatal day 3 (PN3) by Tamoxifen ip injections and mice were sacrificed at PN10 to examine the effects on early and late stages of skeletal development. We performed H&E staining to analyze histological changes in GP structure. To determine changes in molecular signaling, we used ISH and IF staining to quantify expression of GRK2, PTH1R, BrdU (proliferation marker), and ColX (CH marker). At the chondro‐osseous junction, we quantified apoptosis (TUNEL staining), bone deposition (Col1 and Runx2 IF), and matrix mineralization (Alizarin Red (AR) staining). We used in vitro experiments with primary chondrocyte culture to confirm in vivoresults. GRK2 knockdown (KD) was achieved with siRNA before inducing CH. Gene and protein expression of the same molecular markers were analyzed with qPCR and WB, and matrix mineralization quantified by AR.RESULTSGKR2‐icKO mice had: (1) Shorter bones (2) Retained PTH1R expression in the HZ, with reduced gene expression (Fig. 1A), as confirmed in vitro (Fig. 1D) (3) Longer PZ and more proliferative chondrocytes confirmed by BrdU, (4) shorter HZ and less hypertrophic chondrocytes, confirmed by ColX IF (Fig. 1B). (5) At the chondro‐osseous junction, GRK2‐icKO mice had reduced chondrocyte apoptosis, bone deposition, and matrix mineralization (Fig. 1C). In vitroexperiments demonstrated increased GRK2 expression with CH, where GRK2 KD reduced CH and matrix mineralization (Fig. 1D).CONCLUSIONSWe show a novel role of GRK2 in skeletal development as a major regulator of PTH1R in GP chondrocytes. GRK2‐icKO increases chondrocyte proliferation and reduces hypertrophy and apoptosis, leading to reduced bone deposition, matrix mineralization, and shorter bones. Altogether, this presents GRK2 as a novel therapeutic target for skeletal abnormalities.

Clinical features and FGFR3 mutations of children with achondroplasia

To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases. A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021. Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child. This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.

Central ossifying fibroma of mandible arising in association with cemento-osseous dysplasia. An unusual case presentation

<h3>Introduction</h3> Cemento-osseous dysplasia (COD) is known to develop complications including infection, necrosis, and traumatic bone cysts [1]. Neoplastic occurrence with COD has been reported, but is rare [2,3]. We report an unusual case of central ossifying fibroma (COF) of the mandibular symphysis in association with COD in a 46-yearold black female. <h3>Case Description</h3> The patient presented with a mandibular symphysis mass that was associated with difficulty of eating, speaking and paresthesia. The radiographic images showed a predominantly radiopaque mass in the symphysis region, measuring 7 × 6 × 5cm. There were discrete, minimally expansile mixed radiolucentopaque lesions in the posterior mandible and maxilla. The patient underwent mandibular resection due to the symptoms of eating and speaking difficulties as well as paresthesia. Before resection, three incisional biopsies including bilateral posterior regions of mandible and the central mass. Histopathologic examination of posterior specimens revealed similar findings of fragments consisting of cellular fibroblastic tissue intermixed with short bone spicules and cementum-like and hemorrhagic deposits associated with traumatic bone cysts. However, the central specimen showed solid tumor consisting of fibroblastic proliferation supporting spindled fibroblast-like cells. It supported cellular bone trabeculae as well as spherical cementum-like calcified deposits. This framework is interspersed with spaces lined by fibrovascular tissue supporting eosinophilic osteoid, consistent with traumatic bone cysts. <h3>Discussion</h3> COD lacks genetic abnormalities noted in fibrous dysplasia or neoplastic fibro-osseous lesions. We present an unusual association of COF with florid COD. This association has been previously reported in a patient who developed COF with COD and odontoma, and in another who developed peripheral osteoma, odontoma, COF and COD [2,3]. To the best of our knowledge, this presentation describes only the third case report of the association of COF and COD. The co-existence of COF and COD in these cases is unclear, but seems to be very rare.

Improvement of Quantitative Single-Photon Emission Computed Tomography Image Quality by the New Step-and-Shoot Scan Mode

The step-and-shoot (SS) mode and continuous mode are currently used for single-photon emission computed tomography (SPECT) scan mode, and a new scan mode that combines both modes, step-and-shoot plus continuous (SSC) mode, was developed. It is expected to allow a shorter scan time and lower injected dose because the SSC mode is more sensitive than the SS mode. We confirmed the image quality of this scan mode, including various quantitative correction methods for scatter (SC), attenuation (AC), and resolution recovery (RR) in a phantom study and clinical case study. Image quality was evaluated by the count, contrast-to-noise ratio (CNR), and percent of the coefficient of variation (%CV). Independent of the correction methods, the count, CNR, and %CV of the SSC mode were superior to those of the SS mode. The ACSCRR was the best method, with a maximum increased rate of 66.4% in counts and 57.8% in CNR for the 13-mm sphere and 19.6% in CNR for other sphere sizes. The %CV for the SSC mode was the best for AC and ACRR, which was at 15.1%. With regards to attaining short bone SPECT scan time, the combination of the SSC mode and ACRR or ACSCRR demonstrated the best physical performance.

A Rare Tumor at an Unusual Age

Bizarre parosteal osteochondromatous proliferation (BPOP) is a rare lesion that usually arises in short bones of the hand and feet. It is typically seen in the third and fourth decades, seldom seen in the pediatric age group. A 6-year-old girl was presented with swelling over the ring finger of the left hand. The radiograph showed ectopic calcification and periosteal reaction in the ring finger. Computed tomography was performed, and a BPOP diagnosis was made on the preoperative finding. Excision of the lesion with overlying pseudocapsule and decortication was performed with a piezoelectric device. The patient is currently in a routine follow-up without recurrence. There is not enough data for treatment and follow-up BPOP in pediatric patients. The present case would contribute to the literature in the management of this rare presentation.

Pediatric Osteoarticular Tuberculosis as a Diagnostic Dilemma and a Review of Literature.

IntroductionDespite tuberculosis being rampant in the Indian subcontinent, most cases of osteoarticular (OA) tuberculosis (TB) are missed until significant bony destruction has occurred. Initial presentation of extra-pulmonary TB mimics many other disease entities while many diseases mimic TB. This may lead to an incorrect diagnosis and sometimes creates a dilemma in reaching the correct diagnosis. The aim of this study was to evaluate a series of pediatric cases of osteoarticular TB, which posed a diagnostic challenge to us.Material and methodsRetrospective analysis of case records of pediatric OA-TB patients who had presented to two tertiary level centers of urban India between February 2016 and December 2020 was done. There were a total of 69 patients. ObservationsThere were 37 males and 32 females. The age range was from two to 17 years. Forty-four patients showed evidence of disease within the spine (dorsal region followed by lumbar, followed by the cervical spine), 16 showed disease of the extremities, six had disease of the girdle bones, and three showed disease of the short bones of hands or foot. In our series, patients presented to us between 15 days to six months from the onset of symptoms. From our series, six cases with atypical clinical pictures have been selected for presentation purposes. In all six cases, the initial presentation was not that of OA-TB. However, with a high degree of suspicion, differential diagnosis of TB was kept in mind, and the diagnosis was confirmed microbiologically.ConclusionA high degree of suspicion is required to avoid missing the diagnosis of osteoarticular TB. Non-invasive advanced radiological investigations such as MRI and microbiological analysis of biopsy specimens aid in arriving at the correct diagnosis.

EP251: Vascular anomalies in patients with Maffucci syndrome

Maffucci syndrome (MS) is characterized by multiple enchondromas and spindle cell hemangiomas. However, the full spectrum of vascular anomalies present in these patients have not been well defined. Enchondromas are bilateral in most cases and in ∼13% of cases, MS is noticeable in the first year of age. It can cause joint deformities, mobility limitations, scoliosis, bone shortening, leg-length discrepancy, pathological fractures, pain, and loss of function. Surgery is the only treatment currently available.