Bony Deformities Research Articles

D1 MTE1 Case 2: Young male with chronic hepatitis and bony deformity

19 years old gentleman presented with deformity of lower limbs noticed two years back. Significant past h/o jaundice at 8 years of age, h/o fracture of right femur at 17 years of age following fall from bicycle and an atraumatic fracture at the same site one year later. He underwent cataract surgery one year back where he was found to have bilateral renal stone disease with elevated creatinine. He had short stature with scoliosis and apparent genu valgum on right. Biochemical evaluation showed CrCl of 40 ml/min/m2 with increased liver enzymes. He had hypophosphatemia with low-normal s.calcium, elevated ALP, elevated PTH (242 pg/ml) and normal 25(OH)D3. Urine evaluation showed impaired acidification along with glycosuria and phosphaturia in the presence of systemic acidosis and normoglycemia. Skeletal survey showed generalized rarefaction; DXA showed osteopenia. MBD secondary to RTA was considered. Ultrasound showed coarsened liver echotexture. Suspecting Wilson's disease, s.ceruloplamin and 24hrs urinary copper was done but was normal and KF ring was absent. Therefore, liver biopsy was done suggesting chronic hepatitis with dry weight copper of 127.23 mcg/gm (normal < 45 mcg/g) which was <4ULN needed for diagnosis. Can the diagnosis of Wilson's disease be made from the above findings or else, any alternative diagnosis to be considered?

Differentialdiagnose dorsaler Fersenschmerz

Heel pain is a common complaint with a prevalence of 15%. Besides inflammatory, infectious, neuropathic or tumor associated causes of pain, a mechanical bony or soft-tissue related disorder can be identified in most cases. Implementing a successful therapy can be challenging due to the variety of clinically similar differential diagnoses. Degenerative pathologies of the Achilles tendon frequently cause posterior heel pain and are subdivided into insertional tendinopathy (often associated with dorsal heel spurs) and mid portion tendinopathy, which is situated in a hypovascular ”critical zone” 2 to 6cm proximal to the calcaneal insertion site. Other typical disorders causing dorsal heel pain are retro-calcaneal or retro-Achilles bursitis, bony deformities (Haglund́s Syndrome), accessory ossicles (Os trigonum), calcaneal apophysitis (Severˊs disease) or flexor hallucis longus entrapment. A thorough physical examination and imaging diagnostics with sonography and MRI are crucial to identify the cause of pain. The therapy includes a wide range of conservative and surgical options depending on the main pathology.

Abstract 45: The clinical and etiological profile of primary amenorrhea: A single centre experience from South Tamil Nadu

Introduction: Primary amenorrhea, the absence of menstrual cycles by 16years of age, or by 13 years with associated short stature or lack of secondary sexual characters, is most commonly due to gonadal dysgenesis and Mullerian agenesis worldwide and in previous Indian studies.Aims and Objectives: To study the clinal and etiological profile of primary amenorrhea patients presenting to our center.Methods: All cases of primary amenorrhea attending Endocrinology OP from October 2019 to October 2021 were included. Detailed history and physical examination, routine investigations, LH, FSH, TSH, testosterone and estradiol by Roche Cobase e411 and ultrasound abdomen and pelvis were done in all cases, followed by MRI pelvis or MRI brain. Serum cortisol, 11-deoxycorticosterone, 21deoxycortisol, DHEAS, dihydrotestosterone, androstenedione and 17αhydroxyprogesterone, karyotyping, laparoscopy, and gonadal biopsy were done in appropriate cases.Results: 30 patients with primary amenorrhea were included, of which nine were Turner syndrome, seven Mullerian abnormalities, six hypogonadotropic hypogonadism, three CDGP, two CAH-17 alfa hydroxylase deficiency, one case each of 17 beta hydroxysteroid deficiency CAH and Swyer syndrome. Mean age was 20.2years, oldest 33years. All Turner syndrome and 3 hypogonadotropic hypogonadism cases were short in stature. Secondary sexual characters were normal in Mullerian agenesis. Bony deformities were present in two Turner cases and one Mullerian agenesis, renal anomalies in five Mullerian agenesis and two Turner syndrome, and cardiac anomalies in three Turner cases. Hormonal profile, imaging/ karyotype confirmed the diagnosis. Mosaicism was present in 2 cases of Turner syndrome.Conclusion: Primary amenorrhea is quite common in South Indian population and clinical features correlate well with etiology, Turner syndrome being the most common etiology, followed by Mullerian agenesis and hypogonadotropic hypogonadism. Delayed age of diagnosis reflects need for increasing awareness and removing social stigma.

Treatment with Hyaluronic Acid Injections in a Patient with Craniosynostosis

A case of a 25-year-old White female left with residual bone deformity after surgical correction of craniosynostosis during childhood is presented here. The significant psychological discomfort from her deformity caused the patient to experience clinical depression and social phobia. Objectives: The use of soft tissue fillers has grown in popularity for minimally invasive cosmetic procedures. The authors discuss the use of hyaluronic acid (HA) as an available treatment option for the reconstructive volumisation of postsurgical bony deformities in patients with congenital craniosynostosis. Discussion: Although fat graft techniques have previously been described, to the best of the authors’ knowledge, this is the first report of HA fillers as an available treatment option for the reconstructive volumisation of residual bony deformities in patients with craniosynostosis. The negative emotional impact of facial deformities can be dramatically improved by these procedures, making HA a valuable option in providing patients with a highly acceptable cosmetic result. Conclusions: HA can be successfully used as a non-surgical alternative to correct bone deformities of any aetiology. It is a relatively simple and effective technique that leads to cosmetically acceptable results. The authors emphasise the importance of training to gain an in-depth knowledge of the facial anatomy. Intravascular injections in the forehead and temporal fossa can lead to skin necrosis or blindness, therefore it is imperative to perform safe and proper facial aesthetics injections and to manage possible complications before injections.

Neurological manifestations in Tuberous Sclerosis Complex

Tuberous Sclerosis Complex (TSC) is a rare multisystemic neurocutanous autosomal dominant syndrome. The cause of this disorder is a germinal mutation in TSC1 or TSC2 genes. Here, we report a case of a patient presenting tuberous sclerosis complex with TSC2 gene mutation. Our patient is aged 2 years and 6 months old, youngest of two siblings from a non-related marriage. The symptoms are neonatal hypotonia, epilepsy, psychomotor retardation, intellectual deficiency, dolichocephaly, above-average height, facial dysmorphia, and diffuse achromic spots on the chest and abdomen. The family survey found multiple siblings with various symptoms such as bony deformities, epilepsy, language delay, partial deafness, congenital renal malformation, and intellectual disability. The patient's brain MRI showed areas of cortico-subcortical hypodensity and subependymal nodules. The exome sequencing has detected a probably pathogenic heterozygous nonsense variant in the TSC2 gene: NM_000548.3: c.965C&gt;A p.(ser322*). The variant identification was not performed in the parents due to lack of resources. TSC1 and TSC2 genes encode for hamartin-tuberin complex. Mutations in these genes cause hyperactivation of the mTOR pathway leading to the tumor development in several organs including the brain. The neurological manifestations of TSC can be epilepsy, intellectual deficiency, autism and behavioral disorders. The epilepsy is considered the main neurological symptom found in 70-90% of cases. Moreover, mutations in the TSC2 gene lead to severe epilepsy compared to TSC1 mutation. The TSC is a disorder with an important neurological component. Investigations of epilepsy, brain MRI and genetic analysis may play an essential role in TSC diagnosis.&#x0D; Keywords: Tuberous Sclerosis Complex, Neurology, Genetic mutation, TSC2.

Bony deformities in a child with untreated osteogenesis imperfecta type III

Osteogenesis Imperfecta (OI) is a skeletal dysplasia that affects the cross-linking of Type 1 collagen leading to a wide spectrum of manifestations including bony abnormalities, scleral abnormalities, dentinogenesis imperfecta, and hearing abnormalities [1]. Orthopedic manifestations of OI include basilar invagination, kyphoscoliosis, codfish vertebrae, bowing deformities of the long bones, coxa vara, protrusion acetabuli, pathologic fractures, and radial head dislocations [1]. The Sillence Classification, originally designed to describe Types I – IV, has been expanded upon to includes Type V, VI, VII, which do not have a Type I collagen mutation, and instead have other genetic explanations (CRTAP, LEPRE1 genes) for the abnormal bone seen on microscopy [1,2]. Type I, IV represent milder forms of disease, Type V-VII represent milder forms of disease, Type III is the most severe survivable form, and Type II is lethal at birth [1,2]. We present a case of Sillence Type III OI, diagnosed by genetic analysis at birth, with significant bony deformities. She did not have appropriate multidisciplinary medical management of her condition and presented to our clinic at age 14. Radiographs of the spine and extremities demonstrated kyphoscoliosis, bilateral protrusio acetabuli, multiapical bowing bony deformities of femora, tibia, humeri, forearm, radial head dislocations, and short stature. This case highlights the importance of multidisciplinary management for children with OI. This includes physical rehabilitation [3], bisphosphonates [3,4] and more recently gene therapies [3,4], and stem cell transplantation therapies [4]. Patients with Osteogenesis Imperfecta Type III have a limited lifespan [5] and it is important to maximize the advantage of medical therapies. In the absence of the appropriate medical care, osteogenesis imperfecta can develop progressive deformities in the long bones, a high risk of fragility fractures, and progressive kyphoscoliosis that can be difficult to manage surgically due to underlying osteopenia.

Influence of scapular neck length on the extent of impingement-free adduction after reverse total shoulder arthroplasty.

Following reverse total shoulder arthroplasty, a short scapular neck length (SNL) decreases postoperative impingement-free adduction, and impingement between the neck of the scapula and the humeral polyethylene cup may cause scapular notching. However, no reports have evaluated the influence of SNL on impingement-free adduction. The purposes of this study were to evaluate the influence of SNL on impingement-free adduction and to examine the effect of glenoid component lateralization and inferiorization on impingement-free adduction. By use of 3-dimensional templating software, a virtual reverse total shoulder arthroplasty model was created in 15 patients who had no osteoarthritic change or any other bony deformity. We measured SNLs separately before implant placement (preoperative SNL) and after implant placement (postoperative SNL). The implant used was the Comprehensive Reverse Shoulder System (Zimmer Biomet, Warsaw, IN, USA), and baseplate bony lateralization of 0, 5, and 10 mm, with inferior eccentricity of 0.5 or 4.5 mm, was tested for impingement-free adduction. Correlations between the preoperative and postoperative SNLs and impingement-free adduction were analyzed. The mean preoperative SNL was 8.2 ± 1.9 mm (range, 5.0-11.7 mm), and the mean postoperative SNL was 6.0 ± 2.0 mm (range, 2.1-9.8 mm). There was a moderate correlation between the preoperative SNL and impingement-free adduction (r = 0.628, P = .12) and a strong correlation between the postoperative SNL and impingement-free adduction (r = 0.771, P = .001). Use of the model with 10 mm of bony lateralization and 4.5 mm of inferior eccentricity provided the best results in terms of impingement-free adduction. There were correlations between both the preoperative and postoperative SNLs and impingement-free adduction. Although the lateralized and inferiorized center of rotation may increase the risk of loosening of the glenoid component, this offset significantly increased impingement-free adduction.

Distal Radioulnar Joint Instability: Diagnosis and Treatment.

Distal radioulnar joint (DRUJ) instability and triangular fibrocartilage complex (TFCC) tears are more usual than estimated and are frequently overlooked. Diagnosis is often clinical, which can be confirmed using computed tomography (CT) scan and magnetic resonance imaging (MRI). In doubtful cases, bilateral computed tomography in neutral forearm rotation, supination, and pronation should also be performed. Wrist arthroscopy can be diagnostic and therapeutic for ulnar-sided wrist pain. Two systematic reviews showed equivalent outcomes between open and arthroscopic repair of the TFCC. There is scant proof to advise one technique over the other in clinical practice. TFCC repair and reconstruction are contraindicated when there is a bony deformation of the radius or ulna or osteoarthritis of the DRUJ. With the advancement of implant arthroplasty, salvage procedures are less desirable. Constrained distal radioulnar arthroplasty is stable, and the longevity is encouraging.

Different Deformity Origins and Morphological Features in Subtypes of Valgus Knees: A Radiological Classification System.

ObjectiveTo analyze the deformity origins and distribution among valgus knees to individualize their morphological features.MethodsRadiographic images of 105 valgus knees were analyzed. Long‐film radiographs and computed tomography were collected for every knee. A malalignment test was performed on standing long‐film radiographs. The hip‐knee‐ankle angle (HKA), the anatomical lateral distal femoral angle (aLDFA), and the anatomical medial proximal tibial angle (aMPTA) were measured on long‐film radiographs. The distal condylar angle and posterior condylar angle on distal femur were further measured on computed tomography scans. The tibial bone varus angle was measured on long‐film radiographs as well. All the valgus knees were sorted into different subtypes according to the origins of bony deformity, and the prevalence of each subtype was reported. Finally, to examine the inter‐observer reproducibility of this classification system, two observers measured the deformities and did the classification for all the 105 knees independently and then the intraclass correlation coefficient (ICC) was calculated.ResultsAmong the 105 knees, 48 knees (45.7%) had apparent deformity from the tibial plateau, and 62 knees (59.0%) had apparent deformity from the supracondylar region of the femur. Eighteen knees (17.1%) had distal condylar angle >7°, among which 11 knees had posterior condylar angle >3° simultaneously. Valgus knees had five subtypes of bone deformity origins—the supracondylar part of the femur, the distal aspect of the lateral femoral condyle, both distal and posterior aspects of the lateral femoral condyle, the tibial plateau, or the metaphyseal segment of the tibia. A valgus knee could be labeled as only one subtype, or a combination of two or more subtypes. Labeling 105 knees with origin of the most severe deformity, the prevalence of each subtype was 40.0%, 5.7%, 9.5%, 28.6%, and 16.2%, respectively. The intra‐observer and inter‐observer ICC of this classification system was 0.992 and 0.976, respectively.ConclusionsValgus knees can be classified into different subtypes according to deformity origins. This radiological classification system has satisfactory reproducibility. It helps surgeons better individualize morphological features of valgus knees.

Favorable Outcomes of Revision Hip Arthroscopy Irrespective of Whether Index Surgery was Performed by the Same Surgeon or a Different Surgeon.

Introduction:The purpose of this study was to compare minimum 2-year patient-reported outcomes (PROMs) after revision hip arthroscopy between two different patient cohorts who had undergone primary hip arthroscopy with the same surgeon (SS) and a different surgeon (DS). We hypothesized no difference in clinical outcomes between the groups despite differences in intraoperative findings based on the surgical decision making in a revision setting at a high-volume center.Methods:Between January 2012 and August 2017, 71 SS patients were matched for age, sex, body mass index, and follow-up to 71 DS patients. Modified Harris hip score (mHHS), nonarthritic hip score, and hip outcome score—sports-specific subscale (HOS-SSS) were collected prospectively. The minimal clinically important difference was calculated for mHHS and HOS-SSS.Results:All the DS patients had labral tears, and 94.4% had femoroacetabular impingement from residual bony deformity (P < 0.001). The SS and DS groups demonstrated significant and comparable improvement in mHHS (Δ = 18.3 ± 21.5 versus 19 ± 20.1; P = 0.837), nonarthritic hip score (Δ = 18.8 ± 18.8 versus 18.2 ± 18.8; P = 0.850), and HOS-SSS (Δ = 22 ± 27.4 versus 17.5 ± 28.1; P = 0.275). The rates of achieving minimal clinically important difference for mHHS and HOS-SSS were similar. Furthermore, the need for revision surgery and conversion to total hip arthroplasty were comparable (P = 0.228 and P = 0.383).Conclusions:Patients undergoing revision hip arthroscopy reported notable and comparable improvement in multiple patient-reported outcomes at a minimum 2-year follow-up, irrespective of intraoperative findings or primary source of patient pool.

Association between the toe angle and bony factors in the transverse plane for osteoarthritic knees compared with healthy knees.

The association between the toe angle and bony rotational factors is critical to explain issues related to the onset and progression of knee osteoarthritis (OA). The study aimed to clarify the association between the toe angle and each of the femoral and tibial transvers direction relative to gait direction, rotational knee alignment, and bony torsional deformity for the subjects with knee OA. This study evaluated 58 knees in 24 healthy elderly (72 ± 5 years) and 34 varus knee OA (72 ± 6 years). A three-dimensional (3D) assessment system was used on 3D models and biplanar long-leg radiographs with the toe angle reflecting gait direction, applying a 3D-to-2D image registration technique. The main parameters on the transverse plane were: (1) toe angle, (2) transverse direction of the femur and tibia relative to the gait direction, (3) femoral neck anteversion, (4) condylar twist angle, (5) tibial torsion, and (6) rotational knee alignment. The alignment parameters, except for the tibial transverse direction, were different between healthy and osteoarthritic knees. In knee OA, the femoral neck anteversion - femoral transverse direction (p =0.001), femoral transverse direction - tibial transverse direction (p <0.001), and tibial transverse direction - toe angle (p <0.001) were associated. The osteoarthritic knees showed that the femoral neck anteversion was associated with the femoral transverse direction, which determined the tibial transverse direction by adjusting the rotational knee alignment, leading to the toe angle.

Complications from ankle arthrodesis in diabetes-related Charcot foot syndrome

IntroductionCharcot neuroarthropathy (CN) is an inflammatory arthropathy associated with bony destruction, dislocation, and deformity in patients with neuropathy. Surgical procedures involving foot and ankle in CN for deformity correction have been shown to result in high rate of complications. The purpose of this study was to compare post-operative outcomes and assess odds of complication after ankle arthrodesis among patients with diabetes-related Charcot neuroarthropathy, non-Charcot patients with diabetes, and non-Charcot patients without diabetes. MethodsThe PearlDiver Patient Records Database was queried for patients who underwent ankle fusion and maintained at least one year of post-operative follow-up. The following post-operative complications were assessed among groups: overall nonunion and amputation, one-year nonunion, amputation, and hardware removal, 90-day and 30-day surgical site infection, dehiscence, acute kidney injury, and pneumonia, and 90-day myocardial infarction and deep vein thrombosis. The odds and prevalence of each complication for each group were assessed and compared. ResultsHigher rates of amputation (OR 3.43, CI 2.89–4.06), hardware removal (OR 1.63, CI 1.45–1.83), wound dehiscence (OR 1.75, CI 1.44–2.13), acute kidney injury (OR 2.87, CI 2.32–3.54), pneumonia (OR 1.53, CI 1.13–2.07), and surgical site infection (OR 2.46, CI 2.12–2.85), were observed in patients with diabetes-related CN compared to non-Charcot patients with diabetes. In patients without CN, higher rates of nonunion (OR 1.38, CI 1.19–1.61), amputation (OR 2.26, CI 1.74–2.93), surgical site infection (OR 1.57, CI 1.30–1.90), and acute kidney injury (OR 1.57, CI 1.18–2.09) were observed in patients with diabetes compared to patients without diabetes. Time to hardware removal was significantly shorter in diabetes-related Charcot patients compared to non-Charcot patients without diabetes (368.0 ± 446.7 vs 438.5 ± 487.5 days, P < 0.001). ConclusionPatients with diabetes demonstrated increased odds of nonunion, amputation, surgical site infection, and acute kidney injury compared to patients without diabetes. In the population of patients with diabetes, odds of most of these complications were further increased with the addition of Charcot diagnosis compared to patients without diabetes. Other local and multisystemic medical conditions, including pneumonia and wound dehiscence, also demonstrated increased odds in patients of CN.Level of evidence: Cohort study; Level of evidence, 3.

Osteopoikilosis with bony deformities of the right toes in a female child: Case report.

IntroductionOsteopoikilosis (OPK) is an extremely rare benign condition with sclerosing bony dysplasia and multiple benign enostoses. OPK is usually asymptomatic and is typically an incidental finding on imaging studies for unrelated conditions.Case presentationWe presented a case of OPK in a 7-year-old female with hallux valgus, shortening and deformity of second and third metatarsals in the right foot. These abnormalities were observed on clinical findings with X-ray imaging, and osteopoikilosjs was confirmed by histopathology. The deformities were treated with surgical intervention, and the patient's condition was followed for 3 months until the patient walked and removed the gypsum.DiscussionOP is a rare, benign disease that rarely causes bony deformities. It is diagnosed clinically and radiographically, so that the deformities are treated only surgically. Follow-up is necessary to assess the movement of the limb.ConclusionThe distinctive thing that can be added to the medical literature is that it is possible for osteopoikilosis to cause bone deformities at an early age.

Periorbital Mass in a 2-month-old Girl.

Periorbital Mass in a 2-month-old Girl.

Physeal Abnormalities in Children With High-risk Neuroblastoma Intensively Treated With/Without 13-Cis-Retinoic Acid.

This study aimed to investigate the presence of physeal abnormality and its effect on growth in children with high-risk neuroblastoma treated by intensive multimodal treatment with/without 13-cis-retinoic acid (13-CRA). Fifteen patients diagnosed with high-risk neuroblastomas at the age of 1 to 10 years, who received treatment such as high-dose chemotherapy and autologous stem cell transplantation with/without 13-CRA, and with complete data during their >2-year follow-up were retrospectively reviewed. The physeal abnormalities were investigated by whole-body magnetic resonance imaging, serially performed every 3 to 6 months. The patients' height growth was also investigated and compared with that of age-and-sex-matched patients with brain tumors who also underwent high-dose chemotherapy and autologous stem cell transplantation. Six of 15 patients presented multifocal physeal abnormalities during follow-up, and all lesions occurred in patients with 13-CRA use. The lesions in 3 patients completely resolved spontaneously without any adverse effect on growth, but some lesions in the other 3 patients progressed to disturb the bony growth. Height growth of matched patients with brain tumors were not significantly different, and none of the matched controls showed definite bony deformity during the follow-up. Some children who were treated for high-risk neuroblastomas experienced multifocal physeal insults, probably due to the use of 13-CRA. Most lesions resolved spontaneously, but some led to bony deformity. If the lesions are not followed by premature physeal closure, there seems to be no further adverse effect of 13-CRA on leg length growth. Routine periodic screening for physeal status is needed for the patients with high-risk neuroblastomas using 13-CRA. Level IV-prognostic study.

Surgical Technique for Complex Syndactyly in Apert Syndrome : A Serial Case

Abstract: Complex syndactyly in Apert syndrome, especially complicated with synonychia and synostosis, is a surgical challenge. The incidence of Apert Syndrome is reported to be approximately 1 per 100.000 to 160.000 live births and its incidence in Indonesia is not yet known. It is practically symmetrical causing significant dysfunction and infection if not treated properly. The goals in the treatment are separation of independent digits without disturbing function and growth, creation of a lined commissure, provision of skin cover for the denuded nail edge and exposed bone, and to create aesthetically pleasing individual fingertips with proper nails, nail folds and adequate pulp fullness. Many variations of surgical release of the first web space and of the remaining syndactyly have been described. Various approaches to the bony deformity of the thumb have also been described. All previously described techniques advocate releasing a single side of a digit at any given surgery to maintain the vascularity of that digit. This is due to the unreliability of the vascular branching pattern to the digits. In this serial case, we reported 5 cases of Apert syndrome. We described the clinical findings, incision design, immediate and post-surgery follow ups. The results were uneventful, with satisfying function and aesthetic appearance.

Factors predicting difficult spinal block: A single centre study.

Background and Aims:Several factors determine the success of dural puncture. We aimed to assess the association of first puncture success and number of attempts with characteristics of the patient, provider, technique and equipment.Material and Methods:This prospective, observational study was performed in 1647 adult patients undergoing surgery under spinal anesthesia. Patient characteristics, anatomical landmarks, spinal bony deformity, provider experience, technique, skin punctures, needle redirections, subarachnoid space depth, and complications, if any, were noted. Difficult dural puncture was assessed by first puncture success and number of attempts (skin punctures plus needle redirections) required for successful needle placement.Results:First puncture success was obtained in 872 (52.9%) patients. Failed dural puncture occurred in 4 (0.2%) of 1647 patients. Multivariate logistic regression analysis revealed that longer distance from C7 vertebral spine to tip of coccyx (P = 0.04), lower subarachnoid space depth (P = 0.001), good quality of bony landmarks (P = 0.001) and absence of crowded spine (P = 0.02) were associated with first puncture success. Male gender, poor or no spinal landmarks, presence of bony deformity and lower level of provider's experience predicted increased number of attempts for successful dural puncture.Conclusion:First puncture success of spinal block was influenced only by patient's anatomical factors, whereas the number of attempts required for successful block were predicted by both provider and patient factors.

Can Adding BMP2 Improve Outcomes in Patients Undergoing the SUPERhip Procedure?

Congenital femoral deficiency (CFD) Paley type 1b is characterized by severe bony deformity of the upper femur, extra-articular contractures of the hip, and, delayed ossification of the femoral neck and/or subtrochanteric region. The Systematic Utilitarian Procedure for Extremity Reconstruction of the hip (SUPERhip) procedure for the correction of CFD deformities was developed in 1997. Initially, a non-fixed angle device (rush rod) was used for fixation. Late complications of persistent delayed ossification and recurrent varus deformity occurred. In order to reduce and treat such complications, fixation with a fixed angle device and the off-label use of BMP2 to induce ossification of the un-ossified femoral neck were employed. The purpose of this study is to determine if the use of a fixed angle device, and, BMP2 inserted into a drill hole in the cartilage of the femoral neck, decreases the incidence of these late complications. We retrospectively reviewed 72 SUPERhip procedures performed for Paley type 1b CFD between 1997 and 2012. Due to recurrent varus or persistent delayed ossification of the femoral neck, 34 revision SUPERhip procedures were performed. In total, 106 SUPERhip procedures were studied. Sixty-eight SUPERhips were performed using internal fixation without BMP2, while 38 SUPERhips were performed with both internal fixation and the addition of BMP2. Forty-one were performed using non-fixed angle internal fixation while 65 had fixed angle internal fixation. Fixed angle devices significantly reduced the incidence of recurrent varus compared with non-fixed angle devices. Inserting BMP2 in the femoral neck significantly reduced the incidence of persistent delayed ossification. Using only a fixed angle device but no BMP2 did not reduce the incidence of delayed ossification. The combination of both a fixed angle device and BMP2 reduced the incidence of recurrent coxa vara and persistent delayed ossification of the femoral neck. The SUPERhip procedure corrects the pathoanatomy of the proximal femur in CFD Paley type 1b but is associated with a very high risk of recurrence of coxa vara and persistence of femoral neck delayed ossification, unless, a fixed angle internal fixation device is used to prevent recurrent coxa vara and BMP2 is used to induce ossification of the femoral neck.

ESB Clinical Biomechanics Award 2020: Pelvis and hip movement strategies discriminate typical and pathological femoral growth – Insights gained from a multi-scale mechanobiological modelling framework

BackgroundMany children with cerebral palsy (CP) develop skeletal deformities during childhood. So far, it is unknown why some children with CP develop bony deformities whereas others do not. The aims of this study were to (i) investigate what loading characteristics lead to typical and pathological femoral growth, and (ii) evaluate why some children with CP develop femoral deformities whereas other do not. MethodsA multi-scale mechanobiological modelling workflow was used to simulate femoral growth based on three-dimensional motion capture data of six typically developing children and 16 children with CP. Based on the growth results, the participants with CP were divided into two groups: typical growth group and pathological growth group. Gait kinematics and femoral loading were compared between simulations resulting in typical growth and those resulting in pathologic growth. FindingsHip joint contact forces were less posteriorly-oriented in the pathological growth simulations compared to the typical ones. Compared to the typically developing participants, the CP group with pathological femoral growth presented increased knee flexion and no hip extension. The CP group with simulated typical growth presented similar sagittal plane joint kinematics but differed in the frontal plane pelvic and hip movement strategy, which normalized the hip joint contact force and therefore contributed to typical femoral growth trends. InterpretationOur simulation results identified specific gait features, which may contribute to pathological femoral growth. Furthermore, the hip joint contact force orientation in the sagittal plane seems to be the dominant factor for determining femoral growth simulations.

Maffucci Syndrome, Calcium Homeostasis, and Endocrine Challenges in Management

Maffucci syndrome is a rare disorder characterized by enchondromatosis and hemangiomata. It can occur due to sporadic, de novo, mosaic pathogenic variants in the gene encoding isocitrate dehydrogenase 1 (IDH1) or isocitrate dehydrogenase 2 (IDH2). IDH1 variants are associated with endocrine manifestations, such as pituitary adenomas. However, literature is limited in describing other clinical features and available treatments in severe phenotypes. We report a pediatric patient with uniquely complex and severe Maffucci syndrome. Case: A 5-year-old boy was evaluated by pediatric endocrinology for chronic hypercalcemia as part of a multidisciplinary evaluation of his severe Maffucci syndrome. Past medical history included prematurity, restrictive lung disease, developmental delay, seizures, 2-OH glutaric aciduria, angiomas, and bicytopenia. Physical exam revealed angiomas, scoliosis, and severe bony deformities throughout the entire skeleton. During admission, laboratory assays revealed normal parathyroid hormone, phosphorus, 1,25-OH2D, and C-telopeptide; elevated serum calcium and PTH-related peptide; and low 25-OHD, alkaline phosphatase, and osteocalcin. Low-dose ACTH stimulation test yielded a peak cortisol level of 16.8. A 24-hour urine study confirmed hypercalciuria. Renal ultrasound demonstrated nephrocalcinosis. Skeletal survey revealed diffuse and chondromatous changes of nearly every bone. Whole-exome sequencing detected a presumed, mosaic de novo IDH1 variant. DEXA scan revealed total body BMD z-score of -3.8. Discussion: Hypercalcemia in Maffucci syndrome is a rare phenomenon. The most likely etiology was due to the severe and chronic bony breakdown from the underlying progressive enchondromatosis. Subsequently, the body attempted to adapt to these chronic processes with abnormal mineral homeostasis, as seen in his laboratory assays. Chronic primary hyperparathyroidism was not likely, as his PTH, phosphorus, and 1,25 OH2D levels were not congruent with that diagnosis. Familial hypocalciuric hypercalcemia was not likely, as his urine calcium clearance ratio was >0.01. Finally, his slightly elevated PTHrP level was not due to PTHrP-mediated hypercalcemia of malignancy, as his bone marrow biopsy was negative. The options for short-term hypercalcemia management had their own inherent risks and were not suitable for long-term management. Although there is a lack of pediatric data to guide therapy in Maffucci syndrome, decision was made to proceed with bisphosphonate infusion given the benefits in the setting of his nephrocalcinosis, chronic hypercalcemia, and results of his DEXA scan. Given the rarity of Maffucci syndrome, few characteristics are well-described in the pediatric population. A multidisciplinary approach is necessary to review the severity of the disease and to determine the best treatment approach based on this information.