Radiographic Factors for Progression of Thoracolumbar Kyphosis in Achondroplasia Patients after Walking Age: A Generalized Estimating Equation Analysis

Background@#This study aimed to analyse the trends in changes of radiologic parameters according to age to predict factors affecting the progression of thoracolumbar kyphosis (TLK). @*Methods@#Records of patients with achondroplasia were retrospectively reviewed from July 2001 to December 2020. We measured imaging parameters (T10–L2 angle, sagittal Cobb angle, width, height, and number of wedge vertebrae, and apical vertebral translation [AVT]) of 81 patients with radiographically confirmed TLK. Based on the angle on X-ray taken in 36 months, 49 patients were divided into the progression group (P group, TLK angle ≥ 20°) and resolution group (R group, TLK angle < 20°). The mean values between the groups were compared using Student t-test, and the pattern of changes in each radiologic parameter according to age was analysed using a generalized estimating equation. @*Results@#Some imaging parameters showed significant differences according to age between P group and R group: T10–L2 angle (p < 0.001), sagittal Cobb angle (p < 0.001), AVT (p = 0.025), percentage of wedge vertebral height (WVH) (p = 0.018), and the number of severely deformed wedge vertebral bodies (anterior height less than 30% of posterior) (p = 0.037). Regarding the percentage of wedge vertebral widths (superior and inferior endplates), the difference between the two groups did not significantly increase with age, but regardless of age, it was higher in P group than in R group. @*Conclusions@#The difference in the TLK angle between P group and R group of the achondroplasia patients gradually increased with age. Among the imaging parameters, AVT and WVH could be factors that ultimately affect the exacerbation of kyphosis as the difference between the groups increased significantly over time.

Clinical Application of Sequential Epigenetic Analysis for Diagnosis of Silver–Russell Syndrome

Background@#Silver-Russell syndrome (SRS) is a pre- or post-natal growth retardation disorder caused by (epi)genetic alterations. We evaluated the molecular basis and clinical value of sequential epigenetic analysis in pediatric patients with SRS. @*Methods@#Twenty-eight patients who met ≥ 3 Netchine-Harbison clinical scoring system (NH-CSS) criteria for SRS were enrolled;26 (92.9%) were born small for gestational age, and 25 (89.3%) showed postnatal growth failure. Relative macrocephaly, body asymmetry, and feeding difficulty were noted in 18 (64.3%), 13 (46.4%), and 9 (32.1%) patients, respectively. Methylation-specific multiplex ligation-dependent probe amplification (MSMLPA) on chromosome 11p15 was performed as the first diagnostic step. Subsequently, bisulfite pyrosequencing (BP) for imprinting center 1 and 2 (IC1 and IC2) at chromosome 11p15, MEST on chromosome 7q32.2, and MEG3 on chromosome 14q32.2 was performed. @*Results@#. Seventeen (60.7%) patients exhibited methylation defects, including loss of IC1 methylation (N = 14; 11 detected by MS-MLPA and three detected by BP) and maternal uniparental disomy 7 (N = 3). The diagnostic yield was comparable between patients who met three or four of the NH-CSS criteria (53.8% vs 50.0%). Patients with methylation defects responded better to growth hormone treatment. @*Conclusions@#NH-CSS is a powerful tool for SRS screening. However, in practice, genetic analysis should be considered even in patients with a low NH-CSS score. BP analysis detected additional methylation defects that were missed by MS-MLPA and might be considered as a first-line diagnostic tool for SRS.

Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach

Osteogenesis imperfecta (OI) is characterized by recurring fractures and limb and spine deformities. With the advent of medical therapeutics and the discovery of causative genes, as well as the introduction of a newly devised intramedullary rod, the general condition and ambulatory function of patients diagnosed with OI have been improved over the past decades. This review covers recent developments in research and management of OI.

A Pediatric Case of Long-term Untreated Distal Renal Tubular Acidosis

Distal renal tubular acidosis (dRTA) is a rare renal tubular disorder characterized by normal anion gap metabolic acidosis, hypokalemia, and high urine pH. It can be inherited or acquired. In untreated pediatric patients with dRTA, rickets and growth retardation are common. We report the case of a 12-year-old Lao girl who presented with typical clinical features of dRTA with severe bone deformities that developed after a bed-ridden state due to a bicycle accident at the age of 8 years. Initial laboratory tests revealed metabolic acidosis with a normal anion gap, hypokalemia, and alkali urine. Renal ultrasonography revealed bilateral medullary nephrocalcinosis. Whole exome sequencing revealed no pathogenic mutations. After treatment with oral alkali, potassium, and vitamin D, she could walk and run. Later, she underwent corrective orthopedic surgeries for bony deformities. Thus, in pediatric dRTA patients, despite severe symptoms remaining untreated, accurate diagnosis and proper management can improve quality of life.

Functional Outcomes of Hip Arthroscopy for Pediatric and Adolescent Hip Disorders

BACKGROUND: There is a paucity of literature on the use of hip arthroscopy for pathologic conditions in skeletally immature patients. Thus, the indications and safety of the procedure are still unclear. The purpose of this study was to investigate the safety and functional outcomes of hip arthroscopy for pediatric and adolescent hip disorders. We further attempted to characterize arthroscopic findings in each disease.METHODS: We retrospectively reviewed 32 children and adolescents with hip disorders who underwent 34 hip arthroscopic procedures at a tertiary care children's hospital from January 2010 to December 2016. We evaluated functional limitations and improvement after operation by using the modified Harris hip score (HHS), the Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), subjective pain assessment with a visual analog scale (VAS), and range of hip motion as well as the complications of hip arthroscopy. Arthroscopic findings in each disease were recorded.RESULTS: Hip arthroscopy was performed for Legg-Calvé-Perthes disease (n = 6), developmental dysplasia of the hip (n = 6), slipped capital femoral epiphysis (n = 5), idiopathic femoroacetabular impingement (n = 6), sequelae of septic arthritis of the hip (n = 3), hereditary multiple exostosis (n = 2), synovial giant cell tumor (n = 3), idiopathic chondrolysis (n = 2), and posttraumatic osteonecrosis of the femoral head (n = 1). Overall, there was a significant improvement in the modified HHS, WOMAC, VAS, and range of hip motion. Symptom improvement was not observed for more than 18 months in four patients who had dysplastic acetabulum with a labral tear (n = 2) or a recurrent femoral head bump (n = 2). There were no complications except transient perineal numbness in five patients.CONCLUSIONS: Our short-term follow-up evaluation shows that hip arthroscopy for pediatric and adolescent hip disorder is a less invasive and safe procedure. It appears to be effective in improving functional impairment caused by femoroacetabular impingement between the deformed femoral head and acetabulum or intra-articular focal problems in pediatric and adolescent hip disorders.

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

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

Diagnosis and Management of Hip Dislocation in Patients with Kabuki Syndrome

BACKGROUND: Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in Kabuki syndrome ranges from 18% to 62%. We reviewed the outcomes of management of hip dislocations in patients with Kabuki syndrome with special attention to the diagnostic processes for hip dislocation and Kabuki syndrome. METHODS: Among 30 patients with mutation-confirmed Kabuki syndrome, we selected six patients who had hip dislocations and reviewed their medical records and plain radiographs. The modes of presentation and diagnostic processes for both hip dislocations and Kabuki syndrome were investigated. The management and treatment outcomes of hip dislocations in patients with Kabuki syndrome were evaluated. RESULTS: The average age of patients at the time of diagnosis of hip dislocation was 7.7 months (range, 1 week to 22 months). None of the patients were diagnosed as having Kabuki syndrome at that time. Two patients were treated with a Pavlik harness; one, with closed reduction; two, with open reduction and later pelvic and/or femoral osteotomies; and one, with open reduction combined with pelvic osteotomy. The patients were followed up for 5.8 years on average (range, 2.0 to 10.5 years). The radiologic outcome was graded as Severin IA or IB for three patients who were older than 6 years at the latest follow-up (mean age, 9.9 years; range, 7.8 to 12.4 years). In the remaining three patients younger than 6 years (mean age, 3.8 years; range, 2.7 to 5.3 years), the lateral center edge angle was more than 15°. The clinical diagnosis of Kabuki syndrome was made during follow-up after hip dislocation treatment and confirmed by mutational analysis at a mean age of 4.7 years. The mean interval between the diagnosis of hip dislocation and Kabuki syndrome was 4.0 years. CONCLUSIONS: The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management.

A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome

No abstract available.

Regarding Camurati-Engelmann Disease: In Reply

No abstract available.

Orthopedic Manifestations of Type I Camurati-Engelmann Disease

BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course. They were 4 sporadic patients, and two pairs of mother and son. RESULTS: We categorized the mode of presentation into three groups. Group I had 4 patients who mainly presented with motor disturbances in young age. They drew medical attention for waddling gait, awkward ambulation or running, difficulty in going upstairs, or a positive Gower's sign at age 4 to 6 years. Subsequent development of limb pain and radiographic abnormality led to the diagnosis of CED at age 6 to 29 years. Group II had 3 patients who mainly presented with limb pain at age 15, 20, and 54 years, respectively. Radiographic evaluation and molecular genetic test led to the diagnosis of CED. The remaining 1 patient (group III) was asymptomatic until age 9 years when bony lesions at the tibiae were found incidentally. For the last 10 years, he intermittently complained of leg pain in the morning or after sports activities, which did not interfere with daily life. All the patients in group I showed a body mass index in the underweight range (< 18.4 kg/m²). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain. CONCLUSIONS: CED presents with a wide range of severity. Awareness of this rare disease entity may be the key to timely correct diagnosis. This disease entity should be considered in the differential diagnosis of limb pain or motor disturbance in children to avoid unnecessary diagnostic work-up.

Demineralized Bone Matrix Injection in Consolidation Phase Enhances Bone Regeneration in Distraction Osteogenesis via Endochondral Bone Formation

BACKGROUND: Distraction osteogenesis (DO) is a promising tool for bone and tissue regeneration. However, prolonged healing time remains a major problem. Various materials including cells, cytokines, and growth factors have been used in an attempt to enhance bone formation. We examined the effect of percutaneous injection of demineralized bone matrix (DBM) during the consolidation phase on bone regeneration after distraction. METHODS: The immature rabbit tibial DO model (20 mm length-gain) was used. Twenty-eight animals received DBM 100 mg percutaneously at the end of distraction. Another 22 animals were left without further procedure (control). Plain radiographs were taken every week. Postmortem bone dual-energy X-ray absorptiometry and micro-computed tomography (micro-CT) studies were performed at the third and sixth weeks of the consolidation period and histological analysis was performed. RESULTS: The regenerate bone mineral density was higher in the DBM group when compared with that in the saline injection control group at the third week postdistraction. Quantitative analysis using micro-CT revealed larger trabecular bone volume, higher trabecular number, and less trabecular separation in the DBM group than in the saline injection control group. Cross-sectional area and cortical thickness at the sixth week postdistraction, assessed using micro-CT, were greater in the regenerates of the DBM group compared with the control group. Histological evaluation revealed higher trabecular bone volume and trabecular number in the regenerate of the DBM group. New bone formation was apparently enhanced, via endochondral ossification, at the site and in the vicinity of the injected DBM. DBM was absorbed slowly, but it remained until the sixth postoperative week after injection. CONCLUSIONS: DBM administration into the distraction gap at the end of the distraction period resulted in a significantly greater regenerate bone area, trabecular number, and cortical thickness in the rabbit tibial DO model. These data suggest that percutaneous DBM administration at the end of the distraction period or in the early consolidation period may stimulate regenerate bone formation and consolidation in a clinical situation with delayed bone healing during DO.

Anterior Knee Pain in Patients with Cerebral Palsy

BACKGROUND: The aim of this study was to identify the risk factors for anterior knee pain in patients with cerebral palsy. METHODS: This prospective study investigated the risk factors for anterior knee pain in 127 ambulatory patients with spastic cerebral palsy in terms of walking pain, resting pain, and provocative pain. Demographic data analysis and physical examination for measuring the knee flexion contracture and unilateral and bilateral popliteal angles were performed. Patellar height was measured on radiographs, and patella alta was identified. The risk factors for anterior knee pain were analyzed using multivariate analysis with a generalized estimating equation. RESULTS: Seventy-seven patients were found to have patella alta based on the radiographic measurements (60.6%). Overall, sixteen patients (12.6%) had either unilateral or bilateral anterior knee pain. Of these, 6 patients showed a visual analogue scale (VAS) 7. Age was found to be a significant risk factor for walking pain and resting pain with odds ratios (ORs) of 1.08 (95% confidence interval [CI], 1.02 to 1.14) and 1.09 (95% CI, 1.03 to 1.15), respectively. In the multivariate analysis, knee flexion contracture was a significant protective factor with an OR of 0.92 (95% CI, 0.85 to 0.98). CONCLUSIONS: Approximately 12.6% of ambulatory patients with spastic cerebral palsy were found to have anterior knee pain in our hospital-based cohort study. Age was found to be a significant risk factor for anterior knee pain while walking and resting.

Living Donor Liver Transplantation for an Infant with Osteogenesis Imperfecta and Intrahepatic Cholestasis: Report of a Case

Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility and connective tissue manifestations. We report a successful liver transplantation (LT) in an 8-month-old boy with OI and cholestatic biliary cirrhosis. After 4 cycles of intravenous pamidronate, LT was performed under intravenous anesthesia using a left lateral section from his mother without mechanical retractors. The operation time was 420 min and estimated blood loss was 520 mL requiring one unit of RBC transfusion. He was discharged without surgical complications. Therefore, LT should be considered for patients with end stage liver disease and OI under organic multidisciplinary cooperation.

Determining the Best Treatment for Simple Bone Cyst: A Decision Analysis

BACKGROUND: The treatment of simple bone cysts (SBC) in children varies significantly among physicians. This study examined which procedure is better for the treatment of SBC, using a decision analysis based on current published evidence. METHODS: A decision tree focused on five treatment modalities of SBC (observation, steroid injection, autologous bone marrow injection, decompression, and curettage with bone graft) were created. Each treatment modality was further branched, according to the presence and severity of complications. The probabilities of all cases were obtained by literature review. A roll back tool was utilized to determine the most preferred treatment modality. One-way sensitivity analysis was performed to determine the threshold value of the treatment modalities. Two-way sensitivity analysis was utilized to examine the joint impact of changes in probabilities of two parameters. RESULTS: The decision model favored autologous bone marrow injection. The expected value of autologous bone marrow injection was 0.9445, while those of observation, steroid injection, decompression, and curettage and bone graft were 0.9318, 0.9400, 0.9395, and 0.9342, respectively. One-way sensitivity analysis showed that autologous bone marrow injection was better than that of decompression for the expected value when the rate of pathologic fracture, or positive symptoms of SBC after autologous bone marrow injection, was lower than 20.4%. CONCLUSIONS: In our study, autologous bone marrow injection was found to be the best choice of treatment of SBC. However, the results were sensitive to the rate of pathologic fracture after treatment of SBC. Physicians should consider the possibility of pathologic fracture when they determine a treatment method for SBC.

Incidental Findings on Knee Radiographs in Children and Adolescents

BACKGROUND: Despite the wide use of knee radiography in children and adolescent patients visiting the outpatient clinic, there has been no analysis about the prevalence and type of incidental findings yet. This study was performed to investigate the incidental findings on knee radiographs in children and adolescents according to age. METHODS: A total of 1,562 consecutive patients younger than 18 years of age were included. They who visited Seoul National University Bundang Hospital's outpatient clinic with a chief complaint of knee pain or malalignment between 2010 and 2011. We reviewed the knee radiographs and analyzed the prevalence and type of incidental findings, such as metaphyseal lucent area, epiphyseal cortical irregularity, osteochondroma and Harris growth arrest line. RESULTS: The mean age of the patients was 10.2 years (range, 1 month to 18 years). We identified 355 incidental findings in 335 patients (21.4%) and 98 abnormal findings (6.3%). The most common incidental finding was metaphyseal lucent area (131, 8.4%), followed by epiphyseal cortical irregularity (105, 6.7%), Harris growth arrest line (75, 4.8%), and osteochondroma (44, 2.8%). An epiphyseal cortical irregularity tended to have a higher prevalence at younger age (p < 0.001) and the prevalences of metaphyseal lucent area and Harris growth arrest line were also higher at a younger age (p = 0.001 and p < 0.001, respectively). However, the osteochondroma tended to have a higher prevalence at an older age (p = 0.004). CONCLUSIONS: This study describes the incidental findings on knee radiographs in children and adolescents and provides effective information from a viewpoint of an orthopedic doctor. The authors recommend considering those incidental findings if unfamiliar findings appear on a knee radiograph in the pediatric outpatient clinic.

Incidence Patterns of Pediatric and Adolescent Orthopaedic Fractures According to Age Groups and Seasons in South Korea: A Population-Based Study

BACKGROUND: Fractures which need urgent or emergency treatment are common in children and adolescents. This study investigated the incidence patterns of pediatric and adolescent orthopaedic fractures according to age groups and seasons in South Korea based on population data. METHODS: Data on the number of pediatric and adolescent patients under the age of 18 years who utilized medical services due to fractures were retrieved from the Health Insurance Review and Assessment service in South Korea. The data included four upper extremity and two lower extremity fractures according to four age groups (0-4 years, 5-9 years, 10-14 years, and 15-18 years). Incidences of the fractures were calculated as the incidence per 10,000 per year, and patterns according to age groups and seasons were demonstrated. RESULTS: The annual incidence of clavicle, distal humerus, both forearm bone, distal radius, femoral shaft and tibial shaft fractures were 27.5, 34.6, 7.7, 80.1, 2.5, and 9.6 per 10,000 per year in children and adolescents, respectively. Clavicle and distal radius fractures showed significant seasonal variation for all age groups but femoral shaft fracture showed no significant seasonal variation for any of the age groups. CONCLUSIONS: The four upper extremity fractures tended to show greater variations than the two lower extremity fractures in the nationwide database in South Korea. The study results are believed to be helpful in the planning and assignment of medical resources for fracture management in children and adolescents.

Negative-pressure wound therapy induces endothelial progenitor cell mobilization in diabetic patients with foot infection or skin defects

Non healing chronic wounds are difficult to treat in patients with diabetes and can result in severe medical problems for these patients and for society. Negative-pressure wound therapy (NPWT) has been adopted to treat intractable chronic wounds and has been reported to be effective. However, the mechanisms underlying the effects of this treatment have not been elucidated. To assess the vasculogenic effect of NPWT, we evaluated the systemic mobilization of endothelial progenitor cells (EPCs) during NPWT. Twenty-two of 29 consecutive patients who presented at the clinic of Seoul National Universty Hospital between December 2009 and November 2010 who underwent NPWT for diabetic foot infections or skin ulcers were included in this study. Peripheral blood samples were taken before NPWT (pre-NPWT) and 7-14 days after the initiation of NPWT (during-NPWT). Fluorescence-activated cell sorting (FACS) analysis showed that the number of cells in EPC-enriched fractions increased after NPWT, and the numbers of EPC colony forming units (CFUs) significantly increased during NPWT. We believe that NPWT is useful for treating patients with diabetic foot infections and skin ulcers, especially when these conditions are accompanied by peripheral arterial insufficiency. The systemic mobilization of EPCs during NPWT may be a mechanism for healing intractable wounds in diabetic patients with foot infections or skin defects via the formation of increased granulation tissue with numerous small blood vessels.

Consensus and Different Perspectives on Treatment of Supracondylar Fractures of the Humerus in Children

BACKGROUND: Although closed reduction and percutaneous pinning is accepted as the treatment of choice for displaced supracondylar fracture of the humerus, there are some debates on the pinning techniques, period of immobilization, elbow range of motion (ROM) exercise, and perceptions on the restoration of elbow ROM. This study was to investigate the consensus and different perspectives on the treatment of supracondylar fractures of the humerus in children. METHODS: A questionnaire was designed for this study, which included the choice of pinning technique, methods of elbow motion, and perception on the restoration of elbow ROM. Seventy-six orthopedic surgeons agreed to participate in the study and survey was performed by a direct interview manner in the annual meetings of Korean Pediatric Orthopedic Association and Korean Society for Surgery of the Hand. There were 17 pediatric orthopedic surgeons, 48 hand surgeons, and 11 general orthopedic surgeons. RESULTS: Ninety-six percent of the orthopedic surgeons agreed that closed reduction and percutaneous pinning was the treatment of choice for the displaced supracondylar fracture of the humerus in children. They showed significant difference in the choice of pin entry (lateral vs. crossed pinning, p = 0.017) between the three groups of orthopedic surgeons, but no significant difference was found in the number of pins, all favoring 2 pins over 3 pins. Most of the orthopedic surgeons used a removable splint during the ROM exercise period. Hand surgeons and general orthopedic surgeons tended to be more concerned about elbow stiffness after supracondylar fracture than pediatric orthopedic surgeons, and favored gentle passive ROM exercise as elbow motion. Pediatric orthopedic surgeons most frequently adopted active ROM exercise as the elbow motion method. Pediatric orthopedic surgeons and general orthopedic surgeons acknowledged that the patient's age was the most contributing factor to the restoration of elbow motion, whereas hand surgeons acknowledged the amount of injury to be the most contributing factor. CONCLUSIONS: More investigation and communication will be needed to reach a consensus in treating pediatric supracondylar fractures of the humerus between the different subspecialties of orthopedic surgeons, which can minimize malpractice and avoid medicolegal issues.

Consensus and Different Perspectives on Treatment of Supracondylar Fractures of the Humerus in Children

BACKGROUND: Although closed reduction and percutaneous pinning is accepted as the treatment of choice for displaced supracondylar fracture of the humerus, there are some debates on the pinning techniques, period of immobilization, elbow range of motion (ROM) exercise, and perceptions on the restoration of elbow ROM. This study was to investigate the consensus and different perspectives on the treatment of supracondylar fractures of the humerus in children. METHODS: A questionnaire was designed for this study, which included the choice of pinning technique, methods of elbow motion, and perception on the restoration of elbow ROM. Seventy-six orthopedic surgeons agreed to participate in the study and survey was performed by a direct interview manner in the annual meetings of Korean Pediatric Orthopedic Association and Korean Society for Surgery of the Hand. There were 17 pediatric orthopedic surgeons, 48 hand surgeons, and 11 general orthopedic surgeons. RESULTS: Ninety-six percent of the orthopedic surgeons agreed that closed reduction and percutaneous pinning was the treatment of choice for the displaced supracondylar fracture of the humerus in children. They showed significant difference in the choice of pin entry (lateral vs. crossed pinning, p = 0.017) between the three groups of orthopedic surgeons, but no significant difference was found in the number of pins, all favoring 2 pins over 3 pins. Most of the orthopedic surgeons used a removable splint during the ROM exercise period. Hand surgeons and general orthopedic surgeons tended to be more concerned about elbow stiffness after supracondylar fracture than pediatric orthopedic surgeons, and favored gentle passive ROM exercise as elbow motion. Pediatric orthopedic surgeons most frequently adopted active ROM exercise as the elbow motion method. Pediatric orthopedic surgeons and general orthopedic surgeons acknowledged that the patient's age was the most contributing factor to the restoration of elbow motion, whereas hand surgeons acknowledged the amount of injury to be the most contributing factor. CONCLUSIONS: More investigation and communication will be needed to reach a consensus in treating pediatric supracondylar fractures of the humerus between the different subspecialties of orthopedic surgeons, which can minimize malpractice and avoid medicolegal issues.

A Korean Girl with Campomelic Dysplasia caused by a Novel Nonsense Mutation within the SOX9 Gene

Campomelic dysplasia (CMD) is a rare, often lethal, genetic disorder characterized by multiple congenital anomalies and abnormal development of the reproductive organs in males. Mutations in the SOX9 gene are known to cause CMD. We present a Korean CMD girl with a normal 46,XX karyotype and a female reproductive organ phenotype. She was born at 2.35 kg at 38 weeks of gestation and showed characteristic phenotypes, including cleft palate, micrognathia, hypertelorism, flat nasal bridge, congenital bowing of limbs, hypoplastic scapulae, deformed pelvis, and 11 pairs of ribs. She also had an atrioseptal defect of the heart and marked laryngotracheomalacia requiring tracheostomy and tracheopexy. SOX9 mutation analysis revealed the presence of a novel nonsense mutation, p.Gln369*, and the patient was genetically confirmed to have CMD. Although she showed marked failure to thrive and neurodevelopmental delay, she is now 40 months of age and is the only surviving patient with CMD in Korea.