Tricho-rhino-phalangeal syndrome type II. The Langer-Giedion syndrome.
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Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below -2.0 SD in 70% of the patients; the adult heights ranged from -11.4 SD to -5.2 SD. The sitting height percentage was increased in all but 4 patients. Six patients had normal hair. Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and scoliosis in 21% of the patients. Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%. Childhood anaemia had occurred in 79% of the patients. It was usually mild, but severe in 14 patients. Hirschsprung disease had been observed in 8, anal stenosis in 1 and oesophageal atresia in 1 patient. The intrafamilial variation of the syndrome was considerable as studied in 16 sibships.
Sterno-costo-hyperostosis is an inflammatory rheumatic disease which is associated to pustulosis palmaris et plantaris. The origin of this disorder is unknown. We described the appearance as a "reactive" fibromatosis in connection with a hyperostosis of a clavicle, which could be demonstrated in a biopsy-probe and by NMR-technique.
A patient with ankylosing hyperostosis (Forestier's disease) initially diagnosed elsewhere as a case of ankylosing spondylitis with bamboo spine, is presented. The characteristic roentgenographic findings of Forestier's disease in the axial skeleton of this patient are described, including computerized tomography of the lower lumbar spine and sacroiliac joints. Major clinical and radiological distinguishing features of Forestier's disease and ankylosing spondylitis are discussed.
A case of chronic, progressive avulsion of the anterior superior iliac spine leading to the formation of a long, attenuated spur of bone in an 18-year-old black male break dancer is described. The mechanism of formation appeared to be repetitive avulsion from break dancing.
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Extracorporal shock wave application (ESWA) has been used in the treatment of stones located in kidneys, bile, pancreas and the glandula parotis. In the last 2 years several studies have shown the benefit of the ESWA on the treatment of soft tissue disorders. The aim of this study was to explore the effect of high energy extracorporal shock waves in patients with painful calcaneus spurs. 83 patients who underwent medicophysical treatment without benefit were treated with 3000 impulses of 0.30 mj/mm2. Follow-ups after 12 weeks and 12 months showed that 51 of 83 patients became pain-free and 20 patients improved from the treatment. The results are showing the benefit of the high energy extracorporal shock wave application in the treatment of chronic plantar fasciitis.
Extracorporeal shock waves have revolutionized urological stone treatment. Nowadays shock waves are widely used in orthopedics, too. This article reviews the applications of extracorporeal shock waves on bone and adjacent soft tissue. The osteoneogenetic effect of extracorporeal shock waves has been proven and can be used to treat pseudarthrosis with a success rate of around 75%. Shock waves have a positive effect in tennis and golfer's elbow, calcaneal spur, and the complex called "periarthritis humero-scapularis." The mechanism for this is not yet known, and results from large prospective and randomized studies are still lacking. However, the treatment has been performed many thousands of times. In patients in whom conservative treatment has failed surgery used to be the only choice, but its success rate barely exceeds that of shock wave therapy and surgery can still be done if shock wave therapy fails. Extracorporeal shock waves will have an impact on orthopedics comparable to its effect in urology. Scientific evaluations, professional certifications, quality assurance and reimbursement issues present great challenges.
The purpose of our studies was to investigate experimentally the dose-dependent effects of extracorporeal shock waves on tendon and bone and to unveil therapeutic possibilities in tendinopathies and pseudarthroses. In animal experiments, both positive and negative influences were exerted by shock waves, depending on the initial situation and on the power of the applied shock waves. In prospective clinical trials positive effects were found in the treatment of persistent tennis elbow, plantar fasciitis, calcifying tendinitis, and pseudarthrosis. Our data show that extracorporeal shock waves may provide analgesic, resorptive and osteo-inductive reactions with nearly no side effects. However, the high cost of apparatus and staff prevents a routine application. Extracorporeal shock waves thus remain a last alternative before the indication is made for an operative procedure.
We present our technique and preliminary results with endoscopic calcaneoplasty in ten patients resistant for conservative therapy for more than 6 months. All patients showed a Haglund spur on radiography; none had a cavovarus deformity. Follow-up ranged from 2 to 12 months (mean 5.2). All patients showed clinical improvement and would undergo for the procedure again. Three showed a good and seven an excellent result in Ogilvie-Harris score. Postoperative radiographic follow-up showed sufficient bone removal in all cases. Surgery lasted on average 46 min (range 28-84). There were no intra- or postoperative complications. Endoscopic calcaneoplasty is an effective minimally invasive treatment option for patients with retrocalcaneal bursitis.
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Four members of a family - three of whom have facial features mildly resembling those of the trichorhinophalangeal syndrome, type I, and all of whom manifested appendicular bony prominences similar to trichorhinophalangeal syndrome, type II - were found to have the radiographic findings of metachondromatosis. The radiographic manifestations and evolution of metachondromatosis are depicted in this report.
OBJECTIVE: The aim of this study was to develop a radiographic view to detect anteromedial talotibial osteophytes that remain undetected on standard radiographs. DESIGN AND PATIENTS: In 10 cadaver specimens the maximal size was measured of anteromedial tibial osteophytes that remain undetected on a standard lateral radiograph projection, due to the presence of the anteromedial tibial rim. The average projection of the most prominent anterolateral tibial rim over the anteromedial rim was found to be 7.3 mm. A 7 mm barium-clay osteophyte was attached to this anteromedial rim of the distal tibia. Anteromedial osteophytes become most prominent on an oblique view, in which the radiographic beam is tilted into a 45 degrees craniocaudal direction with the leg in 30 degrees external rotation. This oblique view was compared with the findings of arthroscopic surgery in 25 consecutive patients with anterior ankle impingement syndrome. RESULTS: Medially located tibial and talar osteophytes remained undetected on a standard lateral projection and became visible on the oblique anteromedial impingement (AMI) radiograph. Anterolateral tibial and talar osteophytes were well detected on a standard lateral radiograph projection but were invisible on the AMI view. There was a high correlation between the location of the osteophyte and the location of symptoms and the findings at arthroscopy. CONCLUSION: A combination of lateral and oblique radiographs can be used to differentiate between anteromedial and anterolateral bony ankle impingement.
OBJECTIVE: The purpose of our study was twofold: to better understand the relationship between medial meniscal extrusion (MME) and degenerative joint disease (DJD), and to determine whether a relationship exists between MME and medial meniscal root (MMR) pathology, radial tear and joint effusion. DESIGN AND PATIENTS: Two hundred and five consecutive MR imaging examinations of the knee were prospectively evaluated, regardless of indication, for the presence and degree of MME, medial compartment marginal osteophytes, medial compartment articular cartilage loss, joint effusion, medial meniscal tear and MMR pathology. MME >or=3 mm was considered abnormal. All studies were performed using a 1.5 T GE Signa MR unit with a quadrature knee coil. The standard protocol included oblique sagittal, coronal and axial imaging. RESULTS: We found a strong association ( P<0.0001) between >or=3 mm MME and medial joint line osteophytosis (77%), medial compartment articular cartilage loss (69%), MMR pathology (64%) and radial tear (58%) when compared with knees without these findings. Fifty-one percent of cases with a moderate/large joint effusion had <3 mm MME. We found that 20% (31/155) of patients with minimal or no evidence of DJD had >or=3 mm MME. Of this group, 62% (19/31) had either MMR pathology and/or radial tear, 13% (4/31) had joint effusion as their only abnormality and 6% (2/31) had a normal examination (other than the presence of MME). The remaining 19% consisted of three cases of different types of meniscal tear and three cases of small joint effusions but no other detectable pathology. CONCLUSION: MME >or=3 mm is strongly associated with DJD, MMR pathology and radial tear. A significant number of cases with no or minimal evidence of DJD (20%) had >or=3 mm MME, suggesting that MME precedes, rather than follows, the development of DJD. We also found that joint effusion was not strongly associated with >or=3 mm MME.
Heterotopic ossification is the formation of bone in the soft tissues. Soft tissue bone deposition may range from the minimal and inconsequential to massive and clinically significant. In some clinical settings it is a predictable finding with an unpredictable course and in other settings it may be diagnostically confounding. Heterotopic ossification may be encountered in clinically disparate disease processes and circumstances. We review the genetic, neurogenic, post-traumatic, post-surgical and "reactive" causes of heterotopic ossification and discuss some current concepts of its pathogenesis.