Defining shoulder function and dysplasia in patients with longitudinal deficiencies of the upper limb.

BACKGROUND: Phenotypic differences and functional limitations in children with congenital radial and ulnar longitudinal deficiencies (RLD/ULD) are well understood for the forearm and hand. However, anatomical features of shoulder elements in these pathologies have only been scarcely reported. Moreover, shoulder function has not been assessed in this patient population. Therefore, we aimed to define radiologic features and shoulder function of these patients at a large tertiary referral center. METHODS: We prospectively enrolled all patients with RLD and ULD (minimum age: 7 years) for this study. Eighteen patients (12 RLD, 6 ULD) with a mean age of 17.9 years (range, 8.5-32.5) were evaluated using clinical examination (shoulder motion and stability), patient-reported outcome measures (Visual Analog Scale, Pediatric/Adolescent Shoulder Survey, Pediatric Outcomes Data Collection Instrument), and radiologic grading of shoulder dysplasia (including length and width discrepancy of the humerus, glenoid dysplasia in the anteroposterior and axial view [Waters classification], and scapular and acromioclavicular dysplasia assessment). Descriptive statistics and Spearman correlation analyses were performed. RESULTS: Despite five (28%) cases having anterioposterior shoulder instability and five (28%) cases with decreased motion, outcome scores indicated an overall excellent function of the shoulder girdle, with mean Visual Analog Scale of 0.3 (range, 0-5), mean Pediatric/Adolescent Shoulder Survey of 97 (range, 75-100), and mean Pediatric Outcomes Data Collection Instrument Global Functioning Scale of 93 (range, 76-100). The humerus was, on average, 15 mm shorter (range, 0-75), and metaphyseal and diaphyseal diameters both reached 94% of the contralateral side. Glenoid dysplasia was detected in nine (50%) cases, with increased retroversion evident in 10 (56%) cases. However, scapular (n = 2) and acromioclavicular (n = 1) dysplasia were rare. Based on radiographic findings, a radiologic classification system for dysplasia types IA, IB, and II was developed. CONCLUSIONS: Adolescent and adult patients with longitudinal deficiencies exhibit various mild-to-severe radiologic abnormalities around the shoulder girdle. Nevertheless, these findings did not seem to negatively affect shoulder function as the overall outcome scores were excellent.

Distal humeral corrective osteotomy for treatment of supracondylar fracture malunions in children.

Purpose: This study aimed to determine the functional and radiographic outcomes following corrective distal humeral osteotomies for the treatment of supracondylar fracture malunions in children. We hypothesized that such secondary reconstructive procedures could restore a reasonable and near-normal amount of functionality in a large patient cohort at a tertiary referral center. Methods: We retrospectively reviewed the clinical and radiological records of 38 children who underwent corrective osteotomy for posttraumatic supracondylar humeral malunion using K-wire fixation. All clinical data were extracted after chart review, including age, sex, dominant side whenever available, follow-up duration, and elbow range of motion preoperatively and at the final visit. Radiographic parameters, including Baumann's angle, humeroulnar angle, humerocondylar angle, and elbow range of motion were evaluated preoperatively, postoperatively, and at the final visit to identify the surgical correction outcomes. Results: The mean age of the patients at fracture was 5.6 (±2.7) years, and the mean age at surgical intervention was 8.6 (±2.6) years. The mean follow-up period of the current series was 28.2 (±31.1) months. Baumann's angle, humeroulnar angle, and humerocondylar angle were successfully restored to physiological ranges (72.6°, 5.4°, and 36.1°, respectively). Postoperatively, elbow extension improved from -22° (±5.7) to -2.7° (±7.2) versus flexion from 115° (±13.2) to 128.2° (±11.1). Three revision surgeries (8%) were encountered. Conclusions: Corrective osteotomy of the distal humerus with K-wire fixation is a reliable method to efficiently correct malunion of the distal humerus in different planes, thereby improving elbow range of motion and appearance. Level of evidence: level IV: Retrospective therapeutic study.

The ankle in XLH: Reduced motion, power and quality of life.

Background: X-linked hypophosphatemia (OMIM 307800) is a rare bone disease caused by a phosphate-wasting condition with lifelong clinical consequences. Those affected suffer from bone pain, complex skeletal deformities, impaired mobility and a reduced quality of life. Early osteoarthritis and reduced range of motion of the lower limbs are known pathologies in XLH patients. However, XLH-specific data on the affected compartments such as the ankle joint through the evaluation of radiographic and gait analysis data is still lacking. Patients and methods: In this cross-sectional study, patients with genetically verified XLH, age ≥ 16 - 50 years and a complete record of gait analysis and or radiographic analysis data were included. Clinical examination, radiological and gait analysis data were compared to norms using the dataset of our gait laboratory registry. Radiographic analysis included tibial deformity analysis and assessment of osteoarthritis and enthesopathies. Western Ontario and McMaster Universities Arthritis Index (WOMAC), SF36v2, American Orthopedic Foot and Ankle Society score (AOFAS) and the Foot and Ankle Outcome Score (FAOS) were used. Twentythree participants with 46 limbs were eligible for the study. Results: A total of 23 patients (n=46 feet) met the inclusion criteria. Patients with XLH had significantly reduced gait quality, ankle power and plantar flexion (p < 0.001) compared to a historic gait laboratory control group. Ankle valgus deformity was detected in 22 % and ankle varus deformity in 30 % of the patients. The subtalar joint (59.1%) as well as the anterior tibiotalar joint (31.1%) were the main localizations of moderate to severe joint space narrowing. Ankle power was decreased in moderate and severe subtalar joint space narrowing (p < 0.05) compared to normal subtalar joint space narrowing. No lateral or medial ligament instability of the ankle joint was found in clinical examination. Tibial procurvatum deformity led to lower ankle power (p < 0.05). Conclusions: This study showed structural and functional changes of the ankle in patients with XLH. Subtalar ankle osteoarthritis, patient reported outcome scores and clinical ankle restriction resulted in lower gait quality and ankle power.

The articular and the craniocervical abnormalities are of confusing age of onset in patients with Maroteaux-Lamy disease (MPS VI).

BACKGROUND: Maroteaux-Lamy disease (MPS Type VI) is an autosomal recessive lysosomal storage disorder. Skeletal abnormalities are vast. Early recognition may facilitate timely diagnosis and intervention, leading to improved patient outcomes. The most challenging is when patients manifest a constellation of craniocervical and articular deformities with variable age of onset. METHODS: We collected 15 patients with MPS VI (aged from 6 years-58 years). From within our practice in Pediatric Orthopedics, we present patients with MPS type VI who were found to manifest a diverse and confusing clinical presentation of hip deformities and cervical cord compression. Stem cell transplants were proposed as treatment tool and enzyme replacement therapy has been instituted in some patients. RESULTS: The spectrum of the clinical involvement in our group of patients was supported firstly via the clinical phenotype followed by assessment of the biochemical defect, which has been detected through the deficiency of N-acetylgalactosamine-4-sulfatase (arylsulphatase B) leading to increased excretion of dermatan sulphate. Secondly, through the molecular genetic results, which showed homozygous or compound heterozygous mutation in the ARSB gene on chromosome 5q14. Hip replacements and decompression operations have been performed to restore function and to alleviate pain in the former and life saving procedure in the latter. CONCLUSIONS: The efforts in searching for the etiological diagnosis in patients with skeletal dysplasia/MPSs has not been rewarding as many had anticipated. This emerged from several facts such as improper clinical documentation, missing diagnostic pointers in radiographic interpretations, limited knowledge in skeletal dysplasia and its variants, and the reliance on underpowered studies. Physicians and radiologists are required to appreciate and assess the diverse phenotypic and the radiographic variability of MPS VI. The importance of considering MPS in the differential diagnosis of other forms skeletal dysplasia is mandatory. Finally, we stress that the value of early diagnosis is to overcome dreadful complications.

Correction of post-traumatic lower-limb discrepancy with Precice intramedullary lengthening nails: a review of 34 adults with an average follow-up of 2 years.

BACKGROUND AND PURPOSE: We report results and complications of gradual bone lengthening for post-traumatic lower-limb length discrepancy (LLD) with Precice intramedullary lengthening nails in 34 adults. PATIENTS AND METHODS: Inclusion criteria were lower-limb lengthening using the Precice nail, posttraumatic etiology, age older than 18 years, and minimum follow-up of 12 months after implantation. 34 patients met the inclusion criteria. Radiological and clinical outcome data were collected. RESULTS: Precice lengthening was performed in the femur in 28 patients (21 antegrade, 7 retrograde) and in the tibia in 6. Mean patient age at time of surgery was 32 years (18-72). Mean preoperative LLD was 31 mm (20-71). Acute correction of axial or rotational malalignment was performed in 11 segments. At final follow-up (mean 2 years [1.1-3.6]), 33 of 34 nails had been removed. All lengthening sites were healed, and all patients mobilized with full weight-bearing. 14 adverse events occurred in 11 patients and were categorized as problems (n = 5), obstacles (n = 3), and complications (n = 6). Unplanned surgery was necessary in 7 patients, 3 of whom did not complete treatment with Precice. INTERPRETATION: Correction of posttraumatic LLD with or without axial malalignment using Precice intramedullary lengthening nails is associated with a low number of complications and good functional outcome. However, one-fifth of patients in this series needed further unplanned surgery for revision of obstacles or complications.

[Osteogenesis imperfecta : A multidisciplinary challenge]. / Osteogenesis imperfecta : Eine multidisziplinäre Herausforderung.

Osteogenesis imperfecta (OI) describes a group of rare diseases which are associated with an increased tendency to bone fractures. In addition to the main symptom of fractures, OI is characterized by a variety of pediatric, pediatric orthopedic and anesthesiological challenges. The multidisciplinary expertise is mostly concentrated at specialized centers. The current treatment concepts aim at minimizing the fracture rate, prevention and treatment of deformities, pain reduction and improved mobility. In addition to pharmacotherapy, conservative and surgical measures are also applied. Scheduled interventions on the extremities are one of the most commonly performed operations in children with OI. Various intramedullary nailing techniques are available. This article addresses the important aspects of multidisciplinary care of children with OI concerning the treatment of the lower extremities.

Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study.

Background: Gait deviations, lower limb pain and joint stiffness represent key symptoms in patients with X-linked hypophosphatemia (XLH, OMIM 307800), a rare disorder of mineral homeostasis. While the pathomechanism for rickets is well understood, the direct role of PHEX (Phosphate-regulating neutral endopeptidase) deficiency in non-rachitic features including complex deformities, skull and dental affections remains unclear. FGF23-inhibiting antibody treatment can normalize serum phosphate levels and to improve rickets in XLH patients. However, linear growth remains impaired and effects on lower limb deformity and gait are insufficiently studied. Aims: To characterize and evaluate the course of lower limb deformity in a case series of pediatric XLH patients receiving Burosumab therapy. Methods: Comparative assessment of planar radiographs, gait analysis, biochemical and clinical features of pediatric patients before and ≥12 months after initiation of FGF23-inhibiting was performed prospectively. Lower limb maltorsion was quantified by torsional MRI and gait analysis. Standardized deformity analysis of lower limb anteroposterior radiographs was conducted. Results: Seven patients (age 9.0 +/-3.6 years) were eligible for this study. All patients received conventional treatment before onset of antibody treatment. Maltorsion of the femur was observed in 8/14 legs using torsional MRI (mean antetorsion 8.79°). Maltorsion of the tibia was observed in 9/14 legs (mean external torsion 2.8°). Gait analysis confirmed MRI findings with femoral external malrotation prior to and one year after onset of Burosumab therapy. Internal foot progression (intoeing gait) remained pathological in all cases (mean 2.2°). Knee rotation was pathologically internal 10/14 legs. Mean mechanical axis deviation (MAD) of 16.1mm prior to Burosumab changed in average by 3.9mm. Three children underwent guided growth procedures within the observation period. Mild postprocedural rebound of frontal axis deviation was observed under Burosumab treatment in one patient. Conclusions: This is the first study to investigate lower limb deformity parameters quantitatively in children with XLH receiving Burosumab. One year of Burosumab therapy was associated with persistent maltorsion and frontal axis deviation (varus/valgus) despite improved rickets in this small, prospective uncontrolled study.

Does the way of weight-bearing matter? Single-leg and both-leg standing radiographic and pedobarographic differences in pediatric flatfoot.

BACKGROUND: An exact definition is lacking for the term "weight-bearing" or different standing modalities when implementing foot radiographs for children and adults; moreover, only few studies have investigated the relationship between radiographic and pedobarographic measurements. RESEARCH QUESTION: We hypothesized that the method of weight-bearing in single-leg and both-leg standing positions could influence the measurement results in radiographs and the distribution of foot pressure. METHODS: This prospective study evaluated 33 children (66 feet) with flexible flatfoot deformities scheduled for subtalar screw arthroereisis surgery. Radiographs in the lateral and anteroposterior (AP) views were assessed independently in the single-leg and both-leg standing positions. Static pedobarography was performed as that for measuring weight-bearing. Standardized radiographic angles and pedobarographic data were analysed and correlated. RESULTS: There were differences in radiographic measurements between the single-leg and both-leg standing positions, including the AP talocalcaneal angle (p = 0.032), AP talus-first metatarsal base angle (p = 0.003), AP talus-first metatarsal angle (p = 0.003), lateral calcaneal pitch angle (p = 0.001), talus-first metatarsal index (p = 0.004), and talocalcaneal index (p = 0.029). Moreover, differences between these two standing modalities were found in most of the static pedobarographic data, including the contact area (p = 0001), maximal force (p = 0.001), and peak pressure (p = 0.007). Overall, medial foot pressure increased more in both-leg standing than in the single-leg standing position, whereas radiographic measurements showed a more pronounced flatfoot deformity in the single-leg standing position. The AP talus-first metatarsal angle was the only angle or index with a significant association to some pedobarographic measurements in both standing modalities. SIGNIFICANCE: As there are significant differences between single-leg standing and both-leg standing radiographic and static pedobarographic values, observers have to be precise in the definition of "weight-bearing" to gain reproducible and comparable study values in children and adults. We recommend acquiring both-leg standing foot radiographs because children with flexible flatfeet can stand more steadily in this position than in the single-leg standing position.

Age-related Outcomes and Complications of Osteodistraction in the Pediatric Upper Extremity: A Large Retrospective Single-center Study of 61 Cases.

BACKGROUND: The study purpose was to assess: (1) the complication rate of osteodistraction in the pediatric upper extremity, its severity and relation to patient-specific and treatment-specific parameters, and (2) dedicated patient-reported outcome scores after these procedures. METHODS: This retrospective study analyzed a chart of patients undergoing osteodistraction of the upper limb between 2003 and 2020. Demographics, distraction-specific parameters, healing index, and any complications graded according to the Sink grading scale (grades 1 to 5) were extracted. An additional phone interview was performed to assess patient satisfaction and functionality of the elongated limb using the Quick-DASH (Disabilities of Arm, Shoulder, and Hand) score. RESULTS: This study included 61 cases from 48 individual patients. The mean age at the start of distraction was 11.5±3.6 years. The ulna was the most frequently lengthened bone, with 21 (34.4%) cases. Ninety-four complications were observed, with an average complication rate of 77.0%. Based on the Sink grading scale (1 to 5), grade 3 complications were most common (n=29; 47.5%) followed by grade 1 (n=14; 23.0%), 2 (n=14; 23.0%), and 4 (n=4; 6.6%). A significantly lower and thus better bone healing index was observed for the age category less than 10 years compared with the 14 to 18 years group (P=0.006). The average satisfaction was 4.2±1.0 points of 5. The mean Quick-DASH score was 14.1±12.5, indicating very good clinical outcomes. CONCLUSIONS: Despite the occurrence of numerous complications, high patient satisfaction and good daily life functionality of the treated limb was observed. An age of more than 14 years at the beginning of therapy had a negative prognostic effect on bone healing during distraction. Thus, osteodistraction in the upper extremity may preferably be performed less than 10 years of age because of enhanced bone regeneration. LEVEL OF EVIDENCE: Level IV-retrospective case series.

Limb Lengthening With Precice Intramedullary Lengthening Nails in Children and Adolescents.

BACKGROUND: The Precice intramedullary bone lengthening nail has been used in our department since 2013. We sought to determine the efficacy and safety of intramedullary limb lengthening with Precice nails in children and adolescents. METHODS: We retrospectively investigated patients 18 years and younger who underwent lower-limb lengthening using the Precice nail. Radiologic and clinical outcome data were obtained from a prospective database. The minimum postimplantation follow-up was 12 months. Between March 2013 and March 2020, 161 patients underwent limb lengthening with a Precice nail; 76 patients met the inclusion criteria. RESULTS: We used 84 nails in 76 patients (68 femurs and 16 tibias). Femoral nails were inserted using an antegrade approach in 57 patients and a retrograde approach in 11. The mean age at surgery was 16 years (range, 9 to 18 y). The mean lengthening was 33 mm (range, 14 to 80 mm) with additional acute axial or rotational malalignment correction in 16 segments. At the last follow-up (mean=2.1, years; range, 1 to 5 y), all regenerates had healed and all patients were mobile with full weight-bearing. Complications that necessitated surgical revision occurred in 6 patients (8%), and the desired lengthening was not achieved in 2 patients. Postlengthening malalignment occurred in 4 patients (5 tibial nails). The weight-bearing index, defined as days from surgery to full weight-bearing/cm of lengthening, was a mean of 45 days (range, 7 to 127 d/cm). CONCLUSIONS: The Precice nail facilitated reliable and safe bone lengthening and was associated with a low complication rate. Correction of additional malalignment was possible by applying intraoperative acute correction or guided growth. LEVEL OF EVIDENCE: Level IV-therapeutic study investigating the results of treatment.

Surgical treatment of atraumatic osteochondrosis dissecans of the immature talus-Clinical results and prevalence of radiographic joint degeneration after a median follow-up of 72.5 months.

BACKGROUND: This study aimed to assess the clinical and radiographic outcomes of different surgical procedures in atraumatic osteochondrosis dissecans (OCD) of the talus in youth and adolescence. METHODS: 32 joints in 30 patients (mean age 14.7 ± 2.2 years) were evaluated. Numeric Rating Scale (NRS), Foot and Functional Index (FFI), American Orthopedic Foot and Ankle Society ankle-hindfoot score (AOFAS), Pediatric Outcome Data Collection Instrument (PODCI), and sport participation were recorded. We compared preoperative and follow-up ankle radiographs to identify specific features in the OCD morphology and any signs of joint degeneration. RESULTS: After a median follow-up period of 72.5 months the drilling group showed significantly better scores than the combined fixation and reconstruction groups (AOFAS, p = 0.024; PODCI, p = 0.003; NRS, p = 0.027). Signs of joint degeneration were observed in 50% of all ankles, especially in those treated by OCD-fixation and reconstruction. CONCLUSIONS: Advanced fixation and reconstruction procedures in unstable and non-salvageable atraumatic talar OCD resulted in inferior clinical scores and a higher prevalence of joint degeneration than drilling procedures in stable OCD in young patients.

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia.

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH. Design: Data on laboratory examination and gait analysis results were analyzed retrospectively. Deformities, osteoarthritis, pseudofractures, and enthesopathies on lower limb radiographs were investigated. Gait analysis findings were compared between the XLH group and the control group comprising healthy adults. Patients and Controls: Radiographic outcomes were assessed retrospectively in 43 patients with XLH (28 female, 15 male). Gait analysis data was available in 29 patients with confirmed XLH and compared to a healthy reference cohort (n=76). Results: Patients with XLH had a lower gait quality compared to healthy controls (Gait deviation index GDI 65.9% +/- 16.2). About 48.3% of the study population presented with a greater lateral trunk lean, commonly referred to as waddling gait. A higher BMI and mechanical axis deviation of the lower limbs were associated with lower gait scores and greater lateral trunk lean. Patients with radiologic signs of enthesopathies had a lower GDI. Conclusions: This study showed for the first time that lower limb deformity, BMI, and typical features of XLH such as enthesopathies negatively affected gait quality among adolescents and adults with XLH.

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome.

Proteus syndrome is a rare genetic disorder, which is characterized by progressive, segmental, or patchy overgrowth of diverse tissues of all germ layers, including the skeleton. Here, we present a 9-year-old girl with a somatic-activating mutation (c.49G > A; p.Glu17Lys) in AKT1 gene in a mosaic status typical for Proteus syndrome. She presented with hemihypertrophy of the right lower limb and a "moccasin" lesion among others. A transiliac bone biopsy was analyzed for bone histology/histomorphometry as well as bone mineralization density distribution (BMDD) and osteocyte lacunae sections (OLS) characteristics based on quantitative backscattered electron imaging. Bone histomorphometry revealed highly increased mineralizing surface (Z-score + 2.3) and mineral apposition rate (Z-score + 19.3), no osteoclasts (Z-score - 2.1), and an increased amount of primary bone in the external cortex. BMDD abnormalities included a decreased mode calcium concentration in cancellous bone (Z-score - 1.7) and an increased percentage of highly mineralized cortical bone area (Z-score + 2.4) compared to reference. OLS characteristics showed several differences compared to reference data; among them, there were the highly increased OLS-porosity, OLS-area, and OLS-perimeter on the external cortex (Z-scores + 6.8, + 4.4 and 5.4, respectively). Our findings suggest that increased bone formation reduced matrix mineralization in cancellous bone while the enhanced amount of primary bone in the external cortex increased the portion of highly mineralized cortical bone and caused OLS-characteristics abnormalities. Our results indicate further that remodeling of primary bone might be disturbed or delayed in agreement with the decreased number of osteoclasts observed in this child with Proteus syndrome.

Mid-term foot function and pedobarographic analysis of 52 feet after polydactyly resection in childhood.

AIMS: The aims of this study is to report the clinical and radiological outcomes after pre-, central-, and postaxial polydactyly resection in children from a tertiary referral centre. METHODS: All children who underwent resection of a supernumerary toe between 2001 and 2013 were prospectively enrolled and invited for a single re-assessment. Clinical parameters and several dedicated outcome scores (visual analogue scale (VAS), Paediatric Outcomes Data Collection Instrument (PODCI), Activities Scale for Kids (ASK), and American Orthopaedic Foot and Ankle Society Score (AOFAS)) were obtained, as were radiographs of the operated and non-operated feet along with pedobarographs. RESULTS: In all, 39 children (52 feet) with a mean follow-up of 7.2 years (3.1 to 13.0) were included in the study. Resection of a duplicated great toe was performed in ten children, central polydactyly in four, and postaxial polydactyly in 26. The mean postoperative VAS (0.7; 0 to 7), ASK (93.7; 64.2 to 100), and AOFAS range (85.9 to 89.0) indicated excellent outcomes among this cohort and the PODCI global functioning scale (95.7; 75.5 to 100) was satisfactory. No significant differences were found regarding outcomes of pre- versus postaxial patients, nor radiological toe alignment between the operated and non-operated sides. Minor complications were observed in six children (15%). There were seven surgical revisions (18%), six of whom were in preaxial patients. In both groups, below the operation area, a reduced mean and maximum force was observed. Changes in the hindfoot region were detected based on the prolonged contact time and reduced force in the preaxial group. CONCLUSION: Excellent mid-term results can be expected after foot polydactyly resection in childhood. However, parents and those who care for these children need to be counselled regarding the higher risk of subsequent revision surgery in the preaxial patients. Also, within the study period, the plantar pressure distribution below the operated part of the foot did not return to completely normal. Cite this article: Bone Joint J 2021;103-B(2):415-420.

Treatment of advanced stage osteochondrosis dissecans in the adolescent elbow using a hyaloronic acid-based scaffold: a case series of 5 patients.

INTRODUCTION: Osteochondrosis dissecans (OCD) is considered to be one of the main causes for pain, discomfort and morbidity in the pediatric elbow joint. Few treatment options, such as microfracture or autologous transplantation, of osteochondral bone grafts have been described to address advanced OCD. The aim of this retrospective case series is to present preliminary clinical and radiologic findings following advanced stage OCD repair using a novel combination of a hyaluronic acid-based scaffold with autologous iliac crest bone grafting. MATERIALS AND METHODS: Five adolescents, who underwent treatment of OCD (grade 3 or 4 according to Nelson) using a combination technique of defect debridement, transplantation of cancellous iliac crest bone and application of a HYALOFAST® membrane (Anika Therapeutics S.r.L., Italy), were re-assessed using clinical and radiologic examinations (defect diameter, depth, sclerosis, congruency, fragmentation, dissection, radiolucency, growth plate status; MRI) after a minimum of 2 years (mean, 34 months; range, 24-45) postoperatively. Dedicated outcome scores (Numeric Rating Scale [NRS], Pediatric Outcome Data Collection Instrument [PODCI], Mayo Elbow Performance Score [MEPS], and Timmerman-Andrews Score [TIMM] were collected. RESULTS: All patients reported a NRS score of 0. The mean total TIMM, MEPS and PODCI (Global Functioning Scale) scores were 189 (range 165-200), 94 (range, 70-100), and 92 (range 83-98; normative score 47; range 35-55), respectively, indicating good to excellent clinical outcomes. The radiographic analysis showed overall improvements with regard to OCD width and depth reduction (35%, - 27-100%; 52%, 4-100%), but full resolution in only 2 of 5 cases. Elbow motion improved slightly after surgery. No complications were noted. CONCLUSION: This study showed promising clinical short- to mid-term results in adolescent patients with advanced OCD using a novel surgical treatment combination. Radiographic results showed partial healing; hence, residual changes should be monitored over a longer period.

Leg lengthening and deformity correction in rare bone diseases: a multidisciplinary approach.

Congenital and acquired conditions presenting with leg length discrepancy, leg deformity or short stature are not only a challenge for paediatric orthopaedic surgeons in terms of treatment options but may also involve a number of medical specialties due to the complex clinical manifestations of the diseases. Various surgical treatment options are available for these rare genetic diseases, including bone lengthening and growth inhibition techniques for lower limb discrepancy, as well as guided growth and other surgical procedures for correction of angular deformities. Surgical techniques may be similar, but the treatment plans and specific multidisciplinary approaches may differ. The present report is focused on paediatric orthopaedic and multidisciplinary aspects of the treatment of rare bone diseases. We address the clinical presentation of these diseases, gait and surgical procedures for conditions such as achondroplasia, X­linked hypophosphatemia and osteogenesis imperfecta. We also provide a short overview of other rare bone diseases.

Temporary epiphysiodesis in adolescent patients with ulnocarpal impaction syndrome: a preliminary case series of seven wrists.

Adolescents with ulnar positive variance can develop ulnocarpal symptoms due to ulnocarpal impaction syndrome. Common treatment methods are conservative therapy, distal ulna epiphysiodesis or eventually ulnar shortening osteotomy. The aim of this preliminary case series was to investigate a recently described, new therapeutic approach using a reversible, temporary epiphysiodesis technique, following the principles of guided growth. Seven cases with the diagnosis of a painful ulnar positive variance, which underwent a temporary epiphysiodesis, were retrospectively evaluated. These cases consisted of four individual patients who received an intraoperatively customized plate fixation to slow down growth. The following parameters were collected: diagnosis, age at surgery, age at explantation, growth plate status at explantation, ulnar variance before and after surgery, complications and any clinical and radiological abnormalities. The radiological measurements of ulnar variance were performed according to the Gelbermann method. The seven investigated cases (average age at surgery 12.4 years; average age at explantation 14.7 years), in which a temporary epiphysiodesis was performed, showed an average ulnar variance of +3.9 mm (range: from +1.9 mm to +6.1 mm) before the start of therapy. After explantation, an average ulnar variance of +0.1 mm (range: from -3.2 mm to +5.0 mm) was observed, which corresponds to an average reduction/improvement of -3.8 mm (range: from -0.5 mm to -9.3 mm). The ulnocarpal wrist complaints were significantly reduced after the intervention. One case needed a secondary ulnar shortening osteotomy. The described method of a temporary, reversible epiphysiodesis is an elegant, less invasive technique to correct the ulnar positive variance without irreversibly closing the growth plate. In case of therapy failure, a secondary ulna shortening osteotomy is still possible.

Disease-specific gait deviations in pediatric patients with X-linked hypophosphatemia.

BACKGROUND: X-linked hypophosphatemia (XLH) represents the most common genetic form of rickets featuring profound hypophosphatemia with associated skeletal and non-skeletal manifestations. Early onset gait disturbances contribute strongly to the burden of disease. However, no study has comprehensively characterized naturally occurring gait deviations in pediatric patients with XLH. RESEARCH QUESTIONS: Can disease-specific gait deviations and potentially influencing factors be identified by gait analysis in non-surgically treated children with XLH? METHODS: Gait laboratory assessments of 12 pediatric patients with XLH without previous long bone surgery was retrospectively analyzed and compared to age-matched healthy controls. Radiologic and clinical parameters of XLH patients were correlated with kinematic gait variables and gait scores. RESULTS: Reduced external knee rotation and increased external hip orientation was ubiquitous in children with XLH. Increased lateral trunk lean, or "waddling gait", occurred in five children and was associated with varus knee deformities. Overall, children with XLH showed a reduced Gait Deviation Index (GDI) compared to controls. Radiologic and gait analysis revealed complex combined frontal and torsional deformity of the lower limbs as a common feature in XLH. Higher Body Mass Index (BMI) was associated with both lateral trunk lean and impaired GDI. SIGNIFICANCE: Gait analysis is feasible to quantify gait deviations and lower limb deformities in pediatric patients with XLH. Specific gait characteristics including internal knee rotation and external hip rotation are common among patients with XLH and contribute to impaired gait scores. Our data suggest the use of gait and deformity data assessment as outcome parameters in future observational and interventional studies. Standardized assessment might contribute to targeted treatments to improve life quality in XLH patients.

Arthrogryposis is a descriptive term, not a specific disease entity: escobar syndrome is an Example.

BACKGROUND: Children born with multiple congenital contractures have been almost always given the diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a descriptive term, not a specific disease entity. A heterogeneous group of conditions associated with multiple congenital joint contractures (mostly syndromic) should be considered. METHODS: The records of seven children (four boys and three girls with aged 6months- 11 years) of different ethnic origins have been included in this study. The constellation of specific craniofacial dysmorphic features, spine malformation complex, and appendicular skeletal abnormalities in addition to camptodactyly, talipes equinovarus and rocker- bottom feet were a cluster of malformation complex encountered in our patients. Via comprehensive clinical and imaging study (3D reconstruction CT scan), definite diagnosis of Escobar syndrome has been approached. RESULTS: The clinical and imaging phenotype was the key factor towards etiological understanding, treatment and genotype confirmation. We identified compound heterozygous mutations (c.459dupA [p.Val154Serfs*24] and c.794T>G [p.Leu265Serfs*24] of the CHRNG gene in four patients. Bilateral flexion contractures of the knees have been treated by using Iliazarov external fixator. Simultaneous corrections of scoliosis have been achieved by applying either dual traditional growing rods or single growing rods. CONCLUSIONS: The clinical and radiological phenotypic characterizations are the fundamental tool in differentiating Escobar from other forms of multiple contractures. The aim of this study are three folds, firstly to demonstrate the importance of detecting the etiological understanding in children presented with multiple contractures, secondly to refute the general conception among the vast majority of pediatricians and orthopedic surgeons that arthrogryposis multiplex is a diagnostic entity. And thirdly, we were able to detect severe spine deformity via 3D reconstruction CT scan, namely unsegmented posterior spinal bar.