Fixation techniques in lower extremity correction osteotomies and fractures in mild-to-severe osteogenesis imperfecta patients: evaluation of the results and complications.

INTRODUCTION: Osteogenesis imperfecta is a genetic disorder leading to multiple fractures and deformities. Intramedullary rods have been used in the surgical treatment of osteogenesis imperfecta for decades. Complication rates reported by current techniques have been high. This study aimed to examine the results of intramedullary fixation combined with plate and screw technique in patients with osteogenesis imperfecta compared to isolated intramedullary fixation. METHODS: Between 2006 and 2020, forty patients who had surgical treatment for deformities or fractures of the femur, tibia or both with at least two years of follow-up after surgery were included in the study. Patients were divided into groups according to fixation methods. Group 1 was intramedullary fixation only (Titanium Elastic Nail [TEN], Rush Pin, and Fassier-Duval Rod), and Group 2 was intramedullary fixation combined with plate and screws. Medical records and follow-up radiographs were reviewed to evaluate healing and callus formation, types of complications and infection rates. RESULTS: The total number of operated lower extremities of these forty patients was 61 (45 femur and 16 tibia). The mean age of the patients was 9.3 ± 4.6 years. Mean follow-up duration of the patients was 4.4 ± 1.7 years. Thirty-seven (61%) were in Group 1, and 24 (39%) were in Group 2. There was no statistically significant difference in callus formation time between Group 1 and Group 2 (p = 0.67). Complications occurred in 21 of 61 surgeries. While 17 of these complications were in Group 1, 4 were in Group 2 (p = 0.01). CONCLUSION: Intramedullary fixation combined with the plate and screw technique in children with osteogenesis imperfecta is successful considering the complications and revision requirements.

Assessment of early Achilles tenotomy in the newborn idiopathic pes equinovarus.

We aimed to evaluate the clinical and radiological results of early Achilles tenotomy which was performed before Ponseti method in PEV deformities. 37 feet of 26 patients with Dimeglio type 3 and 4 deformities were included in the study. Unlike the classical Ponseti method, patients underwent a mini-open Achilles tenotomy before the first cast. 6-month follow-up of the foot deformities were assessed using Dimeglio classification clinically and lateral talocalcaneal and tibiocalcaneal angles radiologically. There were 20 male and 6 female patients with the median age of 14 days (4-37 days) and 11 bilateral and 15 unilateral deformities. The average follow-up period was 7 months (6-12 months). The mean Dimeglio scores before the Achilles tenotomy and Dimeglio score at the 6 th month follow-up were 14 (11-16) and 4 (4-6) for the right feet, 13 (10-16) and 4 (4-6) for the left feet respectively. The mean number of casting was 3.8 ± 0.4 for right feet and 3.7 ± 0.4 for left feet. The mean talocalcaneal angle was 24 ± 8.2 degrees for the right feet and 27 ± 8.2 degrees for the left feet. The mean tibiocalcaneal angle was 69 ± 12 for the right feet and 72 ± 14 degrees for the left feet. Early Achilles tenotomy can decrease the total number of cast for deformity correction in Ponseti method and provide good clinical and radiological outcomes at 6 th month follow-up in severe PEV deformities according to Dimeglio classification.

Characteristics of femoroacetabular impingement morphology and relation with skeletal maturity among asymptomatic adolescents.

The aim of this study was to analyze presence of the morphological characteristics and prevalence of FAI in asymptomatic adolescents and assess the relation of skeletal maturation with development of FAI morphology. Abdominopelvic computed tomography (CT) of 265 adolescents (9-19 years old) who were admitted to the emergency department between 2011 and 2016 were evaluated retrospectively. Radial reformatted CT images from the femoral neck were created using the multiplanar reconstruction (MPR) method. The femoral neck was divided into 12 segments and alpha angle (AA), femoral head-neck ratio (FHNR) and center-edge angle (CEA) were measured from each segment. Additionally, images were evaluated for the physiological status (open or closed) of the triradiate- cartilage and proximal femoral epiphyses. 204 hips from 102 patients (32 females, 70 males) were retrospectively reviewed. There were 27 (26.5%) patients with cam-type morphology and 18 (17.6%) patients with pincer-type morphologies. No statistically significant difference was detected between the prevalences of cam and pincer morphologies between the two genders. Cam deformity was most frequently seen in anterosuperior segment. All of the patients (100%) with pincer-type morphology and 88% of the patients with cam-type morphology had closed triradiate cartilage, 89% of the patients with cam morphology and 83% with pincer morphology had open proximal femoral physis. Our results showed that prevalence of cam and pincer-type morphology in asymptomatic adolescents is similar to asymptomatic adults. Our findings also indicate that cam- and pincer-type FAI morphologies likely develop during late adolescence after closure of triradiate cartilage and before closure of proximal femoral physis. Level of Evidence - 3.

Lower-extremity rotational profile and toe-walking in preschool children with autism spectrum disorder.

The aim of this study was to establish the torsional and toe-walking profiles of children with autism spectrum disorder (ASD), and to analyze the correlations between torsion, toe-walking, autism severity score, and age. In total, 79 consecutive children with autism were examined to determine their hip rotations, thigh-foot angle, degree of toe-walking, and autism severity. Femoral and tibial torsion values, of the preschool patients, were compared statistically with age-matched controls. The hip rotation profile of the patients was similar to the normal group. Nearly a half of the patients with ASD present excessive external tibial torsion. The difference in the tibial torsion between patients and normal children was statistically significant. A weak correlation was found only between tibial torsion and the autism severity score, but no correlation was found between the other parameters. External tibial torsion is the cardinal and persistent orthopedic manifestation among patients with ASD. Toe-walking is the second most common such manifestation and is an independent orthopedic feature in these patients. External tibial torsion may potentially contribute toward the described gait abnormalities in patients with ASD.

Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey.

Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disorder (LSD) characterized by a chronic, progressive course with multiorgan involvement. In our study, clinical, biochemical, molecular findings, and response to enzyme replacement therapy (ERT) for at least 6 months were evaluated in 20 patients with MPS VI. Treatment effects on clinical findings such as liver and spleen sizes, cardiac and respiratory parameters, visual and auditory changes, joints' range of motions, endurance tests and changes in urinary glycosaminoglycan excretions, before and after ERT were analyzed. ERT caused increased physical endurance and decreased urinary dermatan sulfate/chondroitin sulfate ratios. Changes in growth parameters, cardiac, respiratory, visual, auditory findings, and joint mobility were not significant. All patients and parents reported out an increased quality of life, which were not correlated with clinical results. The most prevalent mutation was p.L321P, accounting for 58.8% of the mutant alleles and two novel mutations (p.G79E and p.E390 K) were found. ERT was a safe but expensive treatment for MPS VI, with mild benefits in severely affected patients. Early treatment with ERT is mandatory before many organs and systems are involved.

Functional results in periacetabular osteotomy: is it possible to obtain a normal gait after the surgery?

INTRODUCTION: Gait analysis is one of the poorly understood dimensions of the functional results obtained after periacetabular osteotomy (PAO) due to dysplasia of the hip. MATERIALS AND METHODS: Spatiotemporal parameters as well as coronal and sagittal plane kinematics and moments were compared among three demographically similar groups of subjects: (i) 23 patients with excellent results according to the Harris Hip Score (HHS) (mean 6.6 years of follow-up); (ii) 12 patients with good and fair results according to the HHS (mean 9.3 years of follow-up); and (iii) 35 asymptomatic controls. RESULTS: 50% of the analysed sagittal plane kinematic parameters were significantly better (p<0.05) in the control group not only for the hip joint but also for the ipsilateral knee and ipsilateral ankle. A vast majority of the other evaluated gait parameters resulted similar among the groups (p>0.05). CONCLUSIONS: In our experience, most of the gait parameters after PAO are close to those observed in control subjects; however, the obtained pattern cannot be classified as a completely normal gait. The excellence in terms of functional results seems not to be determined by the achievement of this theoretical goal.

One-year follow-up study of serial orthotic treatment in two cases with arthrogrypotic syndromes who have bilateral knee flexion contractures.

BACKGROUND: The aim of this pilot study was to investigate the effectiveness of serial splinting in two children with bilateral knee flexion contractures due to arthrogrypotic syndrome. CASE DESCRIPTION AND METHODS: We evaluated the infants' passive knee extension limitation and motor development levels. Serial orthotic treatment was applied to decrease bilateral knee flexion contractures in the knees of the subjects. The follow-up period was up to 1 year. FINDINGS AND OUTCOMES: At the end of serial orthotic treatment, improvement in bilateral passive extension limitation (for the first case, the increase in passive range of extension was approximately 75°, for the second case it was 45°) was achieved in both cases. CONCLUSION: We believe that serial orthotic intervention is effective in patients with arthrogrypotic syndrome at the preoperative period or in patients who cannot be operated on. Further studies are needed for evaluation of effectiveness of this method. CLINICAL RELEVANCE: Our pilot study aimed to investigate the effectiveness of serial orthotic treatment in knee contractures due to arthrogrypotic syndrome in two infants which showed an improvement in range of extension.

Giant cell tumour of humerus: an unexpected lesion in a skeletally immature patient with Hodgkin's disease.

Giant cell tumour (GCT) of bone is a benign aggressive tumour of the bone. It typically presents in persons aged 20 - 40 years. It is rare in adolescents and children. In most cases, GCT of bone occurs in the metaphyseal and epiphyseal regions of long bones. However, in children with open physes, GCT of bone may be centered in the metaphysis and may abut the physis. GCT is most commonly found in the distal femur, proximal tibia, and distal radius. It is not reported after treatment of a cancer in childhood. To the best of authors' knowledge, the coexistence of giant cell tumour of the bone and Hodgkin disease has not been reported in the literature. We report an atypical case of giant cell tumour of humerus in a skeletally immature child treated for Hodgkin's disease (HD), which had initially presented as a bone cyst radiologically.

Evaluation of acetabular development after Dega acetabuloplasty in developmental dysplasia of the hip.

The Dega acetabuloplasty is considered to be safe and effective in the treatment of hip pathologies, but the number of clinical follow-up series in the literature is not sufficient. The aim of our study was to identify the alterations in acetabular development in 35 patients (43 hips) with developmental dysplasia of the hip who were treated with Dega acetabuloplasty. This study is a retrospective review of 7 years of one surgeon's experience with Dega acetabuloplasty performed between May 2002 and January 2010. A total of 35 patients (43 hips) were evaluated, with an average of 58 months (range 25-108 months) of follow-up. Dega acetabuloplasties that were performed for neuromuscular or other conditions and patients who had a follow-up period of less than 2 years were excluded. Open reduction was performed and femoral shortening or varus osteotomy was added whenever the surgeon considered it necessary. The preoperative mean acetabular index (AI) was 35° (range 27-53°), and the mean age of operation was 35 months (range 18-65 months). The mean AI in the early postoperative period was 20° (range 10-34°). At the last follow-up, all patients were pain-free and had unlimited physical activity with no limp, with an improvement in AI to 13° (range 5-23°). An improvement of 7° was observed in AI within the follow-up period. The maximum improvement was 17° and occurred within an 83-month period. In 42 of 43 (98%) of the hips, the AI improved; in one of 43 (2%) of the hips, it remained unchanged and in none of hips did the AI worsen over time. This study is one of the largest series in the English-language orthopedic literature to report that Dega osteotomy is effective in improving the AI and femoral coverage, and that the index further improves over the course of the follow-up period.

Chronic recurrent multifocal osteomyelitis as the first presentation of acute lymphoblastic leukemia in a 2-year-old boy.

SUMMARY: We present herein a 2-year-old boy who suffered from chronic recurrent multifocal osteomyelitis for 6 months and was later diagnosed as acute lymphoblastic leukemia. In view of the rarity of bilateral symmetric and multifocal lesions in osteomyelitis in children, we suggest that leukemia should be investigated with bone marrow aspiration in such patients, even if complete blood count parameters are normal, and there is no hepatosplenomegaly.

A second patient with Tsukahara syndrome: type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis.

In 1989, Tsukahara and colleagues described a single female with a provisionally unique pattern of malformation consisting of low intelligence, short stature, brachydactyly type A1, and characteristic facial features. We report on a second patient confirming Tsukahara syndrome as an established entity.

Sagittal plane analysis of the open and closed methods in children with displaced supracondylar fractures of the humerus (a radiological study).

OBJECTIVES: The aim of this study was to compare the radiological outcome of open and close reduction and osteosynthesis methods in the treatment of type II and III supracondylar humerus fractures in childhood with respect to the immediate post-operative reduction quality in sagittal plane. METHOD: One hundred and forty four-pediatric patients with type IIb and III supracondylar humerus fractures treated at two centers between 1995 and 2005 were evaluated radiologically within a retrospective study. Seventy-six patients (54 boys, 22 girls, mean age 7.6, range 2-12) were treated by closed reduction and cross percutaneous pinning while 68 (49 boys, 19 girls, mean age 7.3, range 2-13) were treated by open reduction. The reduction quality of the open and closed groups was compared on immediate post-operative lateral radiographs by measuring of lateral humerocapitellar angle, anterior humeral line and anterior coronoid line criteria. The reduction quality was classified excellent, good, fair and poor according to the achievement of three, two, one or none of the criteria, respectively. Reductions classified as excellent and good were introduced as acceptable results. RESULTS: At least one criterion was achieved in all the patients of both the groups. The mean humerocapitellar angle was 30.1 degrees in closed reduction group while the mean of it was 29.8 degrees in open reduced group. Radiograph of 48 (63.1%) patients with closed reduction were found to display the anterior humeral line intersecting the middle one-third of capitellum while this criteria was 45 (66%) in open reduction group. The anterior coronoid line was disturbed in three patients in each of both the groups. The reduction quality was evaluated to be excellent in 32 patients, good in 31, fair in 13 at the closed reduction group while these evaluations were 31, 20 and 17 in open reduction group, respectively. Successful reduction was achieved in 74.9% of the patients in closed reduction group and 75% of the patients in open reduction group. CONCLUSION: It is concluded that there was no significant difference between closed and open reductions of pediatric displaced supracondylar fractures with regard to the radiological criteria of reduction quality in sagittal plane.

Safety and efficacy of posterior instrumentation for patients with congenital scoliosis and spinal dysraphism.

OBJECTIVE: Instrumentation and correction of severe congenital scoliosis, particularly in patients with spinal dysraphism, has been reported to cause a high potential rate of neurological compromise after instrumentation. The aim of this study was to evaluate the safety and efficacy of posterior instrumentation and correction of congenital scoliosis with accompanying spinal dysraphism. LEVEL OF EVIDENCE: Level IV therapeutic studies. METHODS: Retrospective x-ray measurements to analyze the efficacy and the evaluation of hospital charts to document the intraoperative and postoperative complications were performed for a consecutive patient series. Scoliosis Research Society-22 questionnaire was used to analyze the health-related quality of life. RESULTS: Twenty-two patients (18 girls and 4 boys) formed the basis of the study. The average age was 12 years (range, 7-18 years) and the average follow-up period was 3.2 years (range, 2-10 years). The types of spinal dysraphism were diastematomyelia in 20 patients and syringomyelia with tethered cord in 2 patients. Twelve patients had previous surgery and 3 patients had simultaneous surgeries for spinal dysraphism. Posterior instrumentation with/without anterior release and fusion was performed in all patients. Major curve was corrected from an average of 71 degrees to 40 degrees (correction rate, 43.6%). The compensatory curve was corrected from an average of 47 degrees to 25 degrees (correction rate, 46.8%). The average loss of correction at final follow-up was 2.2 degrees for major curve and 3.5 degrees for the compensatory curve. The average scores for the 5 domains of Scoliosis Research Society-22 questionnaire were 3.5 for function, 3.9 for pain, 3.5 for self-image, 3.6 for mental health, 3.9 for satisfaction, and 3.6 for total. Neurological monitoring was conducted by using the wake-up test in all patients. The overall complication rate was 31%, including neurological compromise in 2 patients (9%). CONCLUSIONS: Spinal instrumentation was effective for the control of deformity with a relatively higher rate of complications. However, with respect to high complication rate, the ideal solution for managing the congenital cases is still to prevent the progression of the curve with early intervention by using the optimal surgical approach for that particular patient.

Treatment results of pediatric osteosarcoma: twenty-year experience.

The objectives of the study were to compare the results of surgical procedures, amputation and limb-sparing surgery, and to assess the influence of preoperative chemotherapeutic regimens on the survival of pediatric patients with osteosarcoma. We retrospectively analyzed 69 patients treated at our institution between January 1985 and April 2004. The primary treatment modalities were limb-sparing surgery or amputation with or without preoperative chemotherapy. The need for postoperative chemotherapy was determined by the histological response, the tumor margins, and the burdens created by the metastatic disease. The age range was 5.3 to 18.6 years (median, 13.3 years); with a male-female ratio of 0.9. The most common lesion site was the femur, found in 39 patients. Fourteen of the patients had metastases involving the lungs or other bones at the time of diagnosis. Preoperative chemotherapy was done in 45 patients. Most of the patients were treated with cisplatin + adriamycin (27/69, 39.1%). Forty-two patients were surgically treated by amputation and 19 with limb-sparing surgery. Four patients had surgical resection of masses located at sites other than the extremities, and in 4 patients, surgery was not possible. The overall survival rate for the whole group was 32.6%. The overall survival rates were 27.2% and 66.9% for the patients treated with amputation and limb-sparing surgery, respectively. Osteosarcoma has a poor prognosis. Based on our 20-year experience, limb-sparing surgery as surgical management and the cisplatin + adriamycin preoperative chemotherapy regimen seem to be a promising modality for the patients with osteosarcoma.

Convex growth arrest in the treatment of congenital spinal deformities, revisited.

The authors studied 32 patients to delineate the reliability of well-defined but frequently extended indications to define the ideal patient who will benefit from convex growth arrest. Mean age at the time of convex growth arrest was 29 (range 6-72) months, and average follow-up was 40 (24-120) months. Mean Cobb angle was 55 degrees (31-105 degrees) before surgery and 50 degrees (13-107 degrees) at final follow-up. Thirteen patients (41%) had a true epiphysiodesis effect, while 15 (47%) had fusion and 4 (12%) had progression. The age at surgery, magnitude, length and location of the curve, presence of intraspinal anomaly, and presence of sagittal plane or rib deformity were investigated in terms of the outcome, but none of these parameters was found to have an effect on the outcome. In conclusion, convex growth arrest is a safe and effective method in the management of the young patients with congenital spinal deformities. It can be performed for the balanced and cosmetically acceptable deformities of patients younger than 5 years of age regardless of the type, length, magnitude, and location of the curve, the existence of associated rib fusion, or the presence of sagittal plane abnormality.

Reliability and necessity of dynamic computerized tomography in diagnosis of atlantoaxial rotatory subluxation.

Dynamic computerized tomography (DCT) has been accepted to be the standard diagnostic method of atlantoaxial rotatory subluxation (AARS) although its reliability and reproducibility has not been shown yet. The purpose of this study was to evaluate the intraobserver reproducibility and interobserver reliability of DCT. Standard DCT scans of 18 patients with acute torticollis and 12 normal subjects were examined two times in between a time interval of 1 month by three specialists and a last-year resident to define any existing AARS. The interobserver reliability kappa coefficient was -0.015 (poor) for the first examination and 0.327(fair) for the second one. The intraobserver reproducibility kappa coefficients were 0.135 (slight), -0.204 (poor), 1.00 (almost perfect), and 0.474 (moderate) respectively. It was found that DCT has a poor reliability and reproducibility in diagnosing AARS in patients with acute torticollis. Therefore, its routine use is not cost effective in patients with acute torticollis where the deformity usually resolves by a simple cervical mobilization.