X-Linked Spondyloepiphyseal Dysplasia Tarda: Identification of a TRAPPC2 Mutation in a Korean Pedigree

Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided into congenita and tarda forms according to the age at onset and clinical severity, and further subdivided into genetically different forms according to the mode of inheritance and the gene involved. We report a 14-yr-old Korean male who presented with a disproportionately short stature and a short trunk. A pedigree analysis of 3 generations with 6 affected persons revealed an X-linked recessive mode of inheritance. Mutation analysis of the TRAPPC2 (previously called SEDL) gene, the only gene associated with X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT; MIM 313400), was performed, and a splice-donor site mutation in intron 3 of the TRAPPC2 gene (c.93+5G>A) was identified in the proband and in his unaffected mother (a heterozygote). This mutation is one of the 2 most frequent mutations reported in the medical literature, and is known to result in exon 3 skipping. This is the first report of a genetically confirmed X-linked SEDT case in Korea and highlights the importance of recognizing the mode of inheritance in the diagnosis of X-linked SEDT.

Osteosynthesis for Nonunion of the Lateral Condyle of the Humerus / 대한정형외과학회잡지

PURPOSE: Although nonunion of the lateral humeral condyle is a rare complication in children, it can result in a number of complications, and treatment is controversial. Our study shows the results of using osteosynthesis in patients whose lateral humeral condyle was not united. MATERIALS AND METHODS: We studies 16 patients (M : F=13 : 3; Age: 11.8+/-5.2 years) who were diagnosed with nonunion of the lateral humeral condyle and who underwent osteosynthesis. The mean period of nonunion was 56.2 months (5-132 months). Outcome measures were range of movement, bone union, functional score, and carrying angle and were assessed both before and after surgery. RESULTS: Bones of all patients were united within 3 months of the operation; there were no complications. After surgery, a decreased range of movement was observed for 3 of 16 patients. However, the functional index for all patients was improved. In other words, the range of movement could be reduced while the functional index was improved so that the deformity would be lessened. CONCLUSION: Osteosynthesis was successful in repairing the nonunion of the humeral lateral condyle. Therefore, osteosynthesis is suggested for patients who have had no treatment for nonunion of lateral humeral condyle for a long time.

Initial Plain Radiographs versus MR Imaging: Comparison of Prognostic Efficacy in Legg-Calve-Perthes Disease

PURPOSE: To evaluate if at the time of diagnosis of Legg-Calve-Perthes disease, MR imaging is superior to radiographs for identifying patients with a favorable long term prognosis as determined by maintenance of a spherical configuration of the femoral head epiphysis on follow-up radiographs. MATERIALS AND METHODS: We retrospectively analyzed plain radiographs and MR images of 48 femoral heads in 41 patients with Legg-Calve-Perthes disease at time of diagnosis. Femoral head involvement was estimated on initial plain radiographs and MR images using the Catterall classification. Prognosis as determined by maximum femoral head deformity was determined on follow-up radiographs evaluated according to Stulberg classification. RESULTS: Catterall classification of greater than 1 at MR imaging had 100% sensitivity (14/14) for detecting patients with a poor prognosis as indicated by deformity of the femoral head on follow-up radiographs (Stulberg class > 2). Initial radiographs had a lower sensitivity of 57% (8/14) for detecting patients with poor prognosis. Specificity for MR imaging was 21% (7/34) which was not significantly different from 32% (11/34) specificity for initial radiographs. CONCLUSION: Catterall group 1 at initial MR imaging indicates favorable prognosis for Legg-Calve-Perthes disease. Patients with more extensive involvement of the femoral head can have a good outcome, however they are at risk for loss of spherical configuration of the femoral head and subsequent osteoarthritis in adulthood. MR imaging may be superior to radiographs for identifying a subgroup of patients with favorable prognosis.

Intertrochanteric Varus Open Wedge Osteotomyin Legg-Calve-Perthes Disease Patients Older than 9 Years Old / 대한정형외과학회잡지

PURPOSE: To evaluate the outcome of intertrochanteric varus open wedge osteotomy in LCP in patients over 9 years old. MATERIALS AND METHODS: Thirty-three patients over 9 years old, who were diagnosed with LCP were treated by intertrochanteric varus open wedge osteotomies, from August 1989 to August 2002. The mean age of the patients was 10.2 years old (range, 9 to 14 years old), with a mean duration of follow-up of 7.7 years (range, 3.2 to 14.1 years). According to the Harring classification system, there were 3 group A, 21 group B, and 11 group C patients. There were thirty male and three female patient. There were 2 cases of female patients with bilateral extremity involvement of LCP. Radiographic outcome was assessed utilizing Stulberg's classification to grade residual deformities. RESULTS: 10 cases were Stulberg classes I and II (spherically congruent), 15 were classes III and IV (aspherically congruent), and 10 were class V (aspherically incongruent). Less involvement of the disease and treatment in the early stages produced better outcomes. CONCLUSION: Intertrochanteric varus open wedge osteotomy is a reliable treatment for LCP after the age of 9 years old, if the disease is evaluated individually according to the extent and stage of its involvement.

Leg Length Discrepancy Associated with Idiopathic Hemihypertrophy / 대한정형외과학회잡지

PURPOSE: To evaluate the changes in the leg length discrepancy in idiopathic hemihypertrophy as a function of time. MATERIALS AND METHODS: A lower extremity scannogram was performed on 33 patients (16 boys and 17 girls) who were clinically diagnosed with idiopathic hemihypertrophy from September, 1985 to December, 1996. The leg length discrepancy was compared every 6 months. The mean age of the patients on the first visit was 1.6 years (range, 1 to 5 years) and the average follow up period was 9.1 years (range, 8 to 15 years). RESULTS: Not all the discrepancies continued to increase at a constant rate with time. The developmental discrepancy patterns identified were classified as follows: type I, increasing pattern; type II, increasing-plateau pattern; type III, plateau pattern; type IV, increasing-decreasing pattern; type V, decreasing pattern. Twenty five patients (75%) had types I and II discrepancy patterns. CONCLUSION: A continual periodic follow up of the leg length is important in idiopathic hemihypertrophy patients because the developmental patterns of a discrepancy in the length of a lower extremity can vary.

Open Reduction of Developmental Dislocation of the Hip in Patients Older than Eight Years / 대한정형외과학회잡지

PURPOSE: To evaluate the outcome and effectiveness of an open reduction in DDH for the patients 8 years and older. MATERIALS AND METHODS: Fourteen patients older than 8 years and diagnosed with DDH were treated by an open reduction, femoral shortening, and varus derotational osteotomy, combined with or without a Chiari osteotomy from August, 1981 to November, 2002 However, one patient was treated without femoral shortening. The mean age of the patients besides the 2 patients of failure at the time of surgery was 13.1 years (range 8-23), the mean follow up duration was 9.1 years (range 1-22 years). There were 6 cases of left side involvement of DDH, and 5 cases of right side involvement, while the remaining were both sides. One case was male and the others were female, and all hips were dislocated completely. RESULTS: One hip out of 14 patients was not unreduced intraoperatively. One hip showed a redislocation during the follow up period. Eleven patients gained almost the full range of motion of the affected hip except for one patient. Five out of the 12 patients showed a normal gait without limping and pain, and 3showed a slight limping gait but was much improved compared with the preoperative state. Four patients showed a limping gait due to a leg length discrepancy, and the limping gait of one patient was corrected by femoral lengthening. The average Harris hip score among the patients except for 2 cases of failure was 94.6. Nine patients were excellent and 3 patients were good. CONCLUSION: A neglected DDH should be treated positively Because a functionally good hip joint can be obtained after an open reduction of a developmentally dislocated hip, even after the age of 8.

The Inhibitory Effect of Methotrexate-Layered Double Hydroxide (LDH) Hybrid on Osteosarcoma Cell Lines / 대한정형외과학회잡지

PURPOSE: The purpose of this study was to observe and analyze the effect of Methotrexate-Layered Double Hydroxide (LDH) hybrids on growth inhibition and the apoptosis of human osteosarcoma cell lines (SaOS-2, MG-63) and normal fibroblasts. MATERIALS AND METHODS: FITC-LDH hybrids were added to the cells and incubated for 2, 4, 6, and 8 hours. The samples were examined by fluorescence microscopy. SaOS-2 and MG-63 cells, and a normal fibroblast cell line (Detroit 551) were treated with 500 g/mL MTX and 500 g/mL MTX-LDH hybrids for 24, 48, 72, and 96 hours, respectively. The proliferation was measured by using the MTT assay. Apoptosis was determined by DNA fragmentation analysis. RESULTS: The hybrids with LDH entered the cells effectively in a time- and dose-dependent manner. The proliferation of SaOS-2 cells in a culture treated with 500 g/mL of MTX-LDH hybrids for 24 hours was significantly inhibited (37% more) compared to those treated with MTX. MG-63 cell growth was inhibited 20% more than SaOS-2 cell growth. However, the difference in the degrees of inhibition of cells treated with MTXLDH hybrid or with MTX alone reduced with time. DNA ladders appeared in cells treated with 500 g/mL MTX-LDH hybrid for 24 hours but not in those treated with MTX and LDH alone. CONCLUSIONS: The results of this study suggest that MTX-LDH hybrid more effectively enters cells and inhibits their proliferation than MTX alone.

Clinical Applications of Autologous Cultured Osteoblasts: Case Report

We treated 3 cases of fracture and 1 case of avascular necrosis of femoral head using autologous cultured osteoblasts injection. The stromal cells from the bone marrow were cultured to differentiate to osteoblasts for 4 weeks. The fracture sites of each patients were right ulnar shaft, left radial shaft, and left 5th metatarsal base. All of the fractures showed callus formations after 1 week of osteoblasts injection to the fracture site. After 4 weeks, callus formations were progressed. Avascular necrosis of femoral head was bilateral and both were Ficat stage II. Core decompression and allograft impaction were performed to the left, and core decompression and autologous cultured osteoblasts injection percutaneously after 4 weeks of the decompression operation were done to the right femoral head. CT images of 1 year from the operations showed trabecular bone formation and well maintained femoral head contour of the right femur, but resorption of the grafted bone for the left.

Slipped Capital Femoral Epiphysis after Curettage of Juxtaphyseal Chondromyxoid Fibroma of the Femoral Neck / 대한정형외과학회잡지

Chondromyxoid fibroma is a relatively rare benign but potentially aggressive tumor of cartilagenous origin. It usually occurs in the metaphysis of the long bones and the most common site of involvement is near the growth plate of the proximal tibia. We experienced a case of chondromyxoid fibroma, which occurred in the juxtaphyseal portion of the femoral neck. It was treated by curettage and allogenic bone graft initially. Twenty-seven months after this first operation, the capital femoral epiphysis slipped, which was treated by screw fixation. Here, report a case of SCFE after curettage and bone graft for juxtaphyseal chondromyxoid fibroma at the femoral neck and include a brief review of literature.

Surgical Treatment for the Neglected Non-union of the Lateral Humeral Condyle / 대한정형외과학회잡지

PURPOSE: To assess the clinical results of surgical treatment for established nonunion of the lateral humeral condyle and to determine the factors necessary for successful outcome. MATERIALS AND METHODS: 12 patients with nonunion of the lateral humeral condyle underwent open reduction, autogenous iliac bone graft and internal fixation with two smooth or treated K-wires between 1994 and 1999. Mean age was 16 years and the mean follow-up period was 2 years and 8 months. RESULTS: All of the patients achieved solid union at the nonunion site and were free of pain in the elbow upon strenuous activities. Average union time was 7.2 weeks after the surgery. Aggressive anatomical reduction of the fragment must not be undertaken because it may disturb a well adapted joint congruity in adults. Rigid internal fixation with iliac bone graft and preservation of the blood supply of the distal fragment are important factors for a successful outcome. The range of motion of the elbow joint decreased 10.5 degrees on average after surgery. Valgus deformity improved in four of six patients. CONCLUSION: The patients with symptomatic established nonunion are good candidates for surgery, even adults.

Partial Resection of the Sternocleidomastoid Muscle for the Congenital Muscular Torticollis / 대한척추외과학회지

STUDY DESIGN: This is a retrospective study determining the surgical result of the partial resection of the sternocleidomastoid (SCM) muscle for the congenital muscular torticollis. OBJECTIVES: To evaluate the efficacy of the partial resection of the sternocleidomastoid muscle for the correction of the congenital muscular torticollis. MATERIALS AND METHODS: We reviewed 19 patients who were treated by the partial resection of the sternocleidomastoid muscle from 1990 to 1997. The mean age at the time of the operation was 8 year 3 months. Each patient was examined the range of the motion of the neck for the functional results by the modified Ling's criteria, and the tilt of the head, facial asymmetry, presence of the lateral band, loss of the sternomastoid column and quality of the scar for the cosmetic results by the modified Ling's criteria. The over-all cosmetic and functional results were analyzed by the criteria similar to those described by Canale et al. RESULTS: Functionally, 5 patients (26.3%) were excellent, 10 (52.6%) good, 2 (10.5%) fair, and 2 (10.5%) poor. Cosmetically, 7 patients (30.8%) were excellent, 9 (47.4%) good, 1 (5.3%) fair, and 2 (10.5%) poor. The complication was one lymphatic leakage. Seven of 8 patients were good and one patient was fair under the age of 5. Six of 7 patients were good and one patient was poor between the age of 6 and 10. Two of 4 patients were good and two patients were poor over the age of 11. CONCLUSION: The partial resection of sternocleidomastoid muscle for the congenital muscular torticollis would be recommendable, because it is a simple, safe procedure and usually produces satisfactory results. All partial rescetion of the sternal and clavicular head of the sternocleidomastoid muscle may prevent the unsatisfactory cosmetic result which is lateral band due to the clavicular head of the sternocleidomastoid muscle. The good results were achieved in case of under the age 10 years.

Surgical Treatment of Monostotic Fibrous Dysplasia of the Proximal Part of the Femur / 대한정형외과학회잡지

PURPOSE: To clarify the clinical behavior and radiological features and to evaluate the effectiveness of curettage, bone graft and/or internal fixation of monostotic fibrous dysplasia involving the proximal part of the femur without deformity. MATERIALS AND METHOD: We reviewed the medical records and plain radiographs of patients who were proven to have monostotic fibrous dysplasia involving the proximal part of the femur by biopsy and who were treated between January 1994 and December 1998. Among those treated with curettage, bone graft and/or internal fixation, patients were selected for study after minimun of one year had elapsed. Fifteen patients were eligible for this study. RESULT: Although no lesion had completely disappeared at the point of the last follow-up evaluation, clinical results judged by the method described by Guille et al. was satisfactory in all patients. CONCLUSION: The authors believe that curettage and bone grafting with or without internal fixation is a clinically adequate treatment for monostotic fibrous dysplasia of the proximal part of the femur without deformity. Longer periods of follow-up evaluation is warranted because the treatments are not completely effective in eradicating the lesion despite the satisfactory preliminary clinical result.

Effects of bFGF on the Regeneration of Non-vascularized and Vascularized Nerve Graft in Rats / 대한정형외과학회잡지

PURPOSE: This paper compares the effect of basic fibroblast growth factor (bFGF) on the regeneration process in non-vascularized nerve grafts and vascularized nerve grafts in the case of poor recipient bed condition. MATERIALS AND METHODS: One hundred and six Wistar rats were divided into 4 groups; CNG (Conventional nerve graft, n=25), CNG-F (Conventional nerve graft treated with bFGF, n=27), VNG (Vascularized nerve graft, n=25), and VNG-F (Vascularized nerve graft treated with bFGF, n=29). Each type of nerve graft was 6 mm in length, and inserted into a silicone tube, to prevent revascularization from the recipient bed. The bFGF solution (10 L, 400 ng/mL) was injected into the silicone tube in the CNG-F and VNG-F groups, and collagen solution (10 L, 2.4 mg/mL) was injected in the CNG and VNG groups. RESULTS: The latency period delay decreased and the amplitude of motor action potential, the number of myelinated axons, and the number of large myelinated axons (over 5 m in diameter) increased significantly in the CNG-F group versus the CNG group 4 weeks after the operation. The amplitude of the motor action potential, the mean diameter, the number of myelinated axons, and the number of large myelinated axons increased significantly in the VNG-F group versus the CNG-F and the VNG groups 2 and 4 weeks after the operation. CONCLUSION: These results suggest that vascularized nerve graft treated with bFGF is one of the best ways of repairing the segmental peripheral nerve defect.

Limb Lengthening

No abstract available.

Prognostic Factors in Slipped Capital Femoral Epiphysis / 대한정형외과학회잡지

Slipped capital femoral epiphysis is a rare disease in Korea, but the incidence has being increased according to the changes of body contour and life style. Now we have more concern about slipped capital femoral epiphysis, especially the factors which contribute to the final result of treatment. Many factors such as severity of slip, stability of slipped epiphysis, whether closed reduction was done or not, whether severe complication like avascular necrosis or chondrolysis has occurred or not have effect on the result. We analyzed 20 cases of slipped capital femoral epiphysis, which occurred in 16 adolescence in view of which factors contributed to the final satisfactory result. In our study, the difference in the duration of symptoms, instability of slipped epiphysis, patients age, association with obesity or acute trauma and the number of pins had much effect on the final results and whether the reduction was done or not, the kinds of pins and association with endocrinopathy made a little difference. But further studies are necessary because the number of cases is not sufficient and the length of follow up period is not long.

A Case of Ipsilateral Neglected DDH Combined with Contralateral LCPD: A Case Report / 대한정형외과학회잡지

Although many reports have been published about Legg-Calve-Perthes disease, developmental dysplasia of hip, it is difficult to gain a satisfactory results in treatment. We experienced 9 year-old girl with ipsilateral neglected DDH combined with contralateral LCPD, and treated with Klisic operation for DDH and femoral valgus osteotomy for hinged abduction of LCPD. We gained satisfactory results and report this rare case.

Chiari Pelvic Osteotomy in Children and Adolescent / 대한정형외과학회잡지

Twenty five patients (twenty seven hips) who had Chiari osteotomy at Kang Nam St. Marys Hospital between 1980 and 1995 were reviewed to evaluate the factors in the operative technique that contribute to successful outcome and assess the clinical results in various conditions. The length of follow-up ranged from one to fourteen years and the age of at operation ranged from four to twentythree years. Eighteen patients had developmental dysplasia of the hip: four, septic hip: three had another disorders, Prior to the Chiari osteotomy, fourteen hips had an femoral osteotomy and four, trochanteric arthroplasty. We used to the standard osteotomy as described by Chiari with certain modification. A pneumatic saw and osteotome are used instead of Gigli saw. This technique is simple procedure to make the correct level and angle. Bone graft was not performed in all cases even the osteotomy was displaced more than 50 percent of the iliac width. The overall results were 12 excellent, eight good, five fair, and two poor. In eleven patients, the osteotomy had to be displaced more than 50 percent to provide good coverage of the femoral head. Their results were good or excellent. A good result will be obtained if enough attention is paid to displacing the osteotomy. The osteotomy using the pneumatic saw provides accurate level and direction of osteotomy and it is an simple procedure also.

Correlation between Subluxation of Calcaneocuboid Joint and Residual Forefoot Adduction in Congenital Clubfoot / 대한정형외과학회잡지

Residual adduction of the forefoot is recognized as common sequelae of treated clubfoot. The causes of residual forefoot adduction may be metatarsus varus, talonavicular subluxation and subluxation of the calcaneocuboid joint. But, less attention has been given to subluxation of the calcaneocuboid joint. The purpose of this study was to assess the correlation between subluxation of calcaneocuboid joint and residual forefoot adduction, and to suggest the guideline of treatment for subluxation of the calcaneocuboid joint. A retrospective analysis was done by the medical records and radiographs of 48 clubfeet (thirty-four patients) that had been treated with an operation (thirty-three feet) or conservative methods (fifteen feet) at the Kang-Nam St. Mary's Hospital, between 1990 and 1995. The severity of adduction of the forefoot was determined by the angle of talo-first metatarsal. Subluxation of the calcaneocuboid joint was measured by using a grading system. And then, the forefoot adduction was categorized to mild, moderate, and severe degree according to the talo-first metatarsal angle. The average length of follow-up was eighteen months. Of the 48 feet, seventeen had no subluxation of the calcaneocuboid joint (35.4%), twenty-seven Grade I subluxation (56.3%), and four Grade 3 subluxation (8.3%) on initial radiograph. On the final radiograph, twenty-five feet had a residual adduction of the forefoot. In reviewing the distribution of the residual forefoot adduction according to the initial grade of the calcaneocuboid joint subluxation, Grade 0 subluxation had 6 forefoot adduction (35.3%), Grade I subluxation had 15 forefoot adduction (55.6%), and Grade 3 subluxation had 4 forefoot adduction (100%). Grade II calcaneocuboid joint subluxation had two severe residual forefoot adduction deformities (2 out of 4 cases) and Grade I calcaneocuboid joint subluxation had one severe residual forefoot adduction deformity (1 out of 15 cases). But, there was no severe forefoot adduction deformity in Grade 0 calcaneocuboid joint subluxation. The average angle of talo-first metatarsal was decreased in Grade 0 and Grade I subluxation, whereas it was increased in Grade II subluxation. Conclusively, we believe that there is significant correlation between the severity of subluxation of calcaneocuboid joint and residual forefoot adduction, and that the patients who have a Grade II subluxation of calcaneocuboid joint need operative correction of the subluxation of the calcaneocuboid joint.

Change of Longitudinal Axis of Radius and Ulna in Cubitus Varus Deformity / 대한정형외과학회잡지

Cubitus varus, which includes deformities of varus, hyperextension and internal rotation, is the most common complication of supracondylar fracture of the humerus in children. For correction of cubitus varus deformity, many operative methods have been reported but postoperative results are not always satifactory. For the purpose of detection of the reason of postoperative residual deformity, we reviewed AP roentgenography of 22 patients of cubitus varus deformity in the view point that change of longitudinal axis of forearm contribute the residual deformity. The results are summerized as follows: 1. Degree of cubitus varus deformity was more severe in the patients whose interval between the injured time and visiting hospital for cubitus varus was longer. 2. Average proximal radial shaft angle was 10.99degrees +/-3.48degrees in normal limb and 15.72degrees+/-4.03degrees in affected limb and average ulnar shaft angle was 7.86degrees+/-3.60degrees, 10.54degrees +/-4.02degrees (P0.05). 3. More severe cubitus varus deformity revealed more change of proximal radial shaft angle of attected limb compare to normal limb. Based on these results, we concluded that correction of the cubitus varus deformity should not be delayed in order to minimize the secondary change of longitudinal axis of foream bones and to obtain satisfacotry cosmetic outcome.

Femoral Varus Osteotomy for Legg - Calve - Perthes Disease in Children Who Are Less Than 5 Years Old / 대한정형외과학회잡지

Because clinical course of the Legg-Calve'-Perthes disease (LCPD) is varied and unpredictable, it is important that pediatric orthopedists have to know prognostic factors of LCPD in order to choose proper method of treatment. The most universally accepted prognostic factor is the patient's age at the onset of the disease, and most patient's who are less than 5 years old have been treated non-operatively. However, we believe that the extent of involvement of the femoral head is more important in this age group and that operative treatment can get good results in cases of servere head involvement. The purpose of this study is to evaluate the efficacy of femoral varus osteotomy in patients before the age of 5 years with severe involvement. We reviewed 18 patients (23 hips) who were less than 5 years old with Catterall group III (5 patients, 7 hips) or IV (13 patients, 16 hips) involvement from June 1984 to June 1994. Femoral varus osteotomies were performed in all cases. We followed up more than 2 years (range, from 24 to 130 months) and analysed clinical and radiological results. The results were as follows: 1. The mean duration from onset of the disease to the stage of repair was 16 months (range, from 8 to 27 months). 2. 2 hips (28.6%) in group III and 12 hips (75%) in group IV showed radiographic head at-risk signs. 3. Clinically all hips in group III showed good result. However, among the 16 hips in group IV, 13 hips were rated good and 3 hips were fair. Overall, 20 hips (86.9%) showed good result. 4. Radiologically all hips in group III showed good result, whereas in group IV, 10 hips were rated good and 6 hips were fair. Overall, 17 hips (78.9%) showed good result. We concluded that femoral varus osteotomy in patients less than 5 years old with severe involvement might shorten the course of disease and might be effective method.