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These brothers, the offspring of a consanguineous mating, were found to have short-limbed dwarfism, metaphyseal dysostosis, conductive hearing loss and mild mental retardation. This syndrome, which appears to be inherited as an autosomal recessive trait, is distinct from the previously described forms of metaphyseal dysostosis.
A ten year old boy with parents of Rumanian and Turkish origin suffered from metaphyseal chondrodysplasia (McKusick type) with typical radiological changes of the metaphyseal endplates. Microscopic examination of his hair revealed only slight diminution of its thickness, and signs of increased brittleness. Because of Hirschsprung's disease resection of colon was performed. No immunologic changes were found.
We report clinical, anthropometric and radiological findings in 4 siblings with a new type of skeletal dysplasia. 4 normally intelligent girls exhibit dwarfism between -3.4 and -4.6 standard deviations with accentuated shortening of the lower limbs, moderate deformity of the vertebral bodies, mildly striated metaphyses, saddle nose, frontal bossing, and relatively large head. The family pedigree suggests autosomal recessive inheritance. We propose the designation of SPONASTRIME dysplasia, derived from spondylar and nasal alterations with striation of the metaphyses.
In a study of 300 Alaskan Malamutes, dwarfism was shown to be an autosomal recessive inherited disease with complete penetrance that resulted in disturbed endochondral bone formation. Osseous growth disturbance was manifest at the metaphyses of tubular bones. Clinical and radiographic changes were very similar to those of rickets, although appositional bone formation rates were normal. Serum calcium, phosphorus, and alkaline phosphatase were within normal limits. Urinary excretion of calcium, phosphate, and amino acids were normal. Excess matrix was formed in the zone of cartilage cell proliferation, and the matrix persisted in the growth plate. Normal stresses resulted in microfractures in the metaphyses with subsequent interference of vascular penetration into the zone of degenerated cartilage cells.
Metaphyseal fractures having different degrees of stability were produced in rats, rabbits, and dogs. The progress of healing various radiologic patterns, observed by correlated roentgenographic and histologic observations, show that the appearance on radiographs of one or two broad, ill-defined bands of increased density indicates a normal healing process. Cortical healing lags behind cancellous bone healing. No external callus develops. The appearance of two dense, well-defined bars bordering a radiolucent gap indicates delayed union or nonunion and usually can be attributed to instability at fracture site. The appearance of an external callus and the elaboration of a fibrocartilaginous bridging by callus portrays delayed union, secondary to gross instability and/or displacement. Similar patterns appear when there is an avascular fragment, in which case osteogenic activity is limited to one fracture line. Radiologic criteria based on histologic observations permit assessment of metaphyseal fracture healing.
A study of skeletal development in X-linked hypophosphatemic (Hyp) mice revealed that radiographic characteristics of the disease appear as early as seven days after birth and that an unexpected transitory metaphyseal radio-opacity occurs in the long bones of the Hyp mice. Hyperostotic osteomalacia appears at the first week, peaks at the third week, and starts to fade by the fourth week. Undecalcified bone sections of three-week-old mice revealed an increased amount of trabecular bone in the metaphysis of the Hyp mice accounting for the increased radio-opacity. Blood chemistry data in three-week-old mice showed a low plasma phosphate, a slight hypocalcemia and elevated alkaline phosphatase. Three-week-old Hyp mice had a reduced percentage of magnesium in their bone ash compared to normal. The blood chemistry data resembled those of adult Hyp mice and did not explain the increased metaphyseal bone mass. The mechanism underlying this genetic abnormality of bone is unclear.
A 15-day-old female child is presented with multiple joint dislocations who died during the neonatal period. She had additional features of metaphyseal dysplasia, deficient calcification of vault of the skull, growth retardation, a natal tooth, lymphoedema and facial dysmorphism. This may constitute a new syndrome of multiple joint dislocations with metaphyseal dysplasia.
The effect of self-reinforced polyglycolide (SR-PGA) absorbable membranes on metaphyseal bone was studied in eighty-seven rats. SR-PGA membranes, 0.15 mm thick, were implanted on the femoral metaphyseal bone: on the periosteum, and directly on bone after periosteal stripping. In a control group, only periosteal stripping was performed. The rats were killed after 1, 3, 6, 12 and 24 weeks. Fibrous tissue formation around the implant, periosteal thickening and new bone formation occurred more extensively when SR-PGA membranes were implanted directly on bone after periosteal stripping. Fibrous tissue invaded the membranes. At twenty-four weeks, few fibre remnants were found embedded in a rim of fibrous tissue. No locally adverse reactions were recorded. Polyglycolide (PGA) appeared to have a positive inductive effect on new bone formation.
INTRODUCTION: The authors reviewed 57 upper metaphyseal lengthenings of the tibia. They especially studied complications in order to evaluate this method. MATERIAL AND METHODS: Fifty seven tibial lengthenings in 47 children and adolescents were reviewed. All lengthenings were performed according to the callotasis technique, using Judet's lengthener in the first 15 cases, the, OF-Garches Orthofix in 42 cases. All the callotasis principles were applied: delayed elongation, 1 mm per day distraction, one month neutralization after elongation period, then dynamization before removing the apparatus. Particularities were: a) metaphyseal osteotomy of the upper tibia, b) screw fixation and osteotomy of the fibula, c) classical dynamization according to De Bastiani and Aldegheri in 29 cases, dynamization by a silastic collar (OF-Dyna-Ring) in 28 cases. METHODS: Severity of complications was classified according to Caton: none, benign, serious (needed reoperation or reanesthesia) and severe (sequel). Complications and rate of lengthenings without complication or with benign complications were studied relative to etiology, age, amount of lengthening and the stage of program in which they occurred. A table summarizes data of all the lengthenings. RESULTS: Lengthening was 52.3 mm in average. Healing time (number of days to lengthen and to fuse the bone divided by the number of lengthened centimeter) was 40 in average (range: 20-105): it was 45.6 days per cm when using classical dynamization and only 34.3 with silastic collar dynamization (p = 0.002). Total of complications was 59 out of 57 lengthenings. 21 complications were benign, 37 serious and 1 severe (partial motor palsy of the foot). Thirty two (56 per cent) lengthenings were performed without unforeseen procedure or anesthesia. There were 4 intra-operative complications: 1 vascular lesion, 1 incomplete osteotomy and 2 malpositioned half screws. Complications of elongation period were the most numerous, 4 transient palsies, 6 knee contractures (2 led to a supracondylar fracture), 6 equinism (4 needed an Achilles tendon lengthening), 12 valgus deviations in which 9 were realigned using OF-Garches fixator without reoperation, 1 serious depression occurred in a bilateral lengthening. Consolidation was achieved without complication in 52 cases. Complications were: 1 refracture (fourth lengthening of the same tibia), 1 delayed union, 1 non-union, 2 late deviations. DISCUSSION: Rate of nervous and joint complications is close to that of other series. However, a high osteotomy decreases the consequences on the foot without increasing knee contracture in flexion. The ability to realign during the elongation period appears to be a prevention of valgus deformity compared to Wagner's technique. The authors's distractor is better tolerated than Ilizarov's. Problems with consolidation are rare, less than 9 per cent of the cases. CONCLUSION: A modular distractor improves the results of tibial lengthening; realignment is possible before, during or after the elongation. OF-Orthofix is easy to apply and well-tolerated by the patient, especially in bilateral lengthenings. Performing a high osteotomy, the callus is thick and the consolidation is quickly achieved and safe. A well-thought dynamization using Orthofix Dyna-Ring decreases the treatment time which is 35 days per centimeter in average.
The growth plate is thought to be capable of limiting tumor spread. To assess the presence and extent of epiphyseal involvement in bone tumors, the plain radiographs and the MR images of 41 patients with metaphyseal sarcoma and radiographically apparent growth plate were studied. The results were compared with surgical, microscopic and histologic findings. Histology demonstrated that in 3 patients the tumor did not reach the growth plate, in 25 the epiphysis was involved while in 13 cases the tumor reached the physis but did not spread to the epiphysis. In the latter group of patients, histology demonstrated a microinfiltration of the physis in 5 cases. Radiography and MR sensitivities were 77.2% and 100%, respectively, while specificity was 94% for both methods. Histology showed that the epiphysis was involved in 25/41 cases (61%) and the growth plate in 30/41 (73%). Our results show that the growth plate does not usually act as a barrier against tumor spread and that MRI is the diagnostic tool of choice in the assessment of epiphyseal spread in metaphyseal tumors even though it cannot detect growth plate microinfiltrations.
The presence of cancellous bone determines the choice of location for osteotomies in the metatarsals. The head and base have good cancellous bone, whereas the shaft has cortical bone and a medullary canal which make it a poor choice of osteotomy site. Many practitioners are now using a transverse metaphyseal osteotomy; however, the authors choose the pivotal metaphyseal osteotomy as the procedure of choice using a 10- or 12-mm Pivotal Osteotomy Blade attached to an oscillating power source.
PURPOSE OF THE STUDY: This study aimed to evaluate a method for the treatment of upper tibial metaphyseal fractures using an external epiphysodiaphyseal fixation with the double-frame Hoffmann device. MATERIALS AND METHODS: The study included 48 patients (37 men and 11 women) aged 16 to 82 years. The tibial fracture was simple in 15 cases, included a metaphyseal comminution, partial in 3 cases and total in 30. In 13 patients, there was also a simple articular fracture. The fracture was opened in 24 cases (type I in 10, type II in 7 and type III in 7 cases). METHODS: The gap and displacement evaluation between the fragments after reduction was made on postsurgical roentgenograms; its was considered as complete when all fragments were in contact with each other, without frontal or anteroposterior translation above 5 mm. Healing was defined as a complete bone continuity providing a painless load bearing. The patients were clinically and radiologically reexamined with a mean follow-up of 15.45 months (5 to 62 months). RESULTS: After healing, there were 2 cases of angular deformities in patients whose autonomy was otherwise already reduced. Twenty-three patients had a minor pin tract infection. There was 3 cases of secondary osteitis after a type-III open fractures and 3 other deep septic complications without functional consequences. Forty-one fractures healed without bone graft in a mean time of 18 +/- 7.6 weeks. Healing did not seem to statistically depend on the opening nor on the type of fracture, but rather on the association with a peroneal fracture and the loss of cohesion between the fragments. The duration of professional invalidity evaluated in 20 cases, varied between 4 to 21 months (means: 11.3 months), and none of the patients had to modify his activity because of the tibial fracture. At follow-up, no patient complained of invalidating pain. Thirty-two patients recovered a satisfactory knee joint mobility and among the 16 others, in only 3 no particular reason was found to explain the deficit. DISCUSSION: While good anatomic and functional results lead us to keep the principle of external fixation, it seems however necessary to modify the modalities of the treatment in order to improve healing conditions, especially by improving the cohesion of the fragments through secondary minimal internal fixation. The use of dynamic axial fixation devices could therefore bring a theoretical advantage, but it must be proven that they produce in this site a primary stabilization which is a good as that obtained with Hoffmann's device.
PURPOSE OF THE STUDY: The major problem in external fixation of upper metaphyseal tibial fractures with a double-frame Hoffmann device is poor healing. With a dynamic fixation, it would be possible, with no change in technique, to compress the fracture site in a second phase, and therefore to facilitate the healing process. However, a new fixation device should not compromise the primary stability of the fixation. The aim of this experimental study on cadavers was to compare, in conditions very close to a clinical situation, the initial stabilization capability of five types of external fixation. MATERIAL: Five types of external fixators were tested on cadavers specimens: 1. a standard double-frame Hoffmann device; 2. a double-frame Hoffmann's device sagittaly reinforced with two additional anterior-posterior half-pins; 3. a type-1 axial dynamic fixation device using 6-mm conical pins; 4.a type-2 dynamic axial fixation device with 5-mm cylindrical pins; and 5. a mixed device including an lizarov-type epiphyseal fixation and a monoplane diaphyseal fixation. METHODS: The metaphyseal fracture was simulated by a transversal resection of a 20-mm segment. Specimens received by increments a load of up to 310 N, with which it was possible to determine stiffness components in valgus/varus, flexion/extension, rotation around the vertical axis and axial vertical displacement. The bone mineral content of the specimens was measured by Di Energy X-ray Absorptiometry. RESULTS: The stabilization characteristics of type-1 axial dynamic fixation were identical to those of the standard Hofmann's device in flexion/extension and in rotation as well as axially, but a greater mobility in valgus/varus was observed. The sagittal reinforcement of Hoffmann's device increased its rigidity in flexion/extension. The mixed lizarov fixation was stiffer than the standard Hoffmann's device in rotation; it was equivalent in valgus/varus and flexion/extension and less stiff in axial vertical displacement. In this study it was showed that the individual variability of bone mineral content is a negligible parameter. DISCUSSION: The experimental behaviour of the mixed Ilizarov device gives to assume that it may facilitate the healing process without endangering the primary stability of the fixation. However, this theoretical advantage should be validated in a randomized prospective clinical study.
Pyle's disease is rare skeletal dysplasia in which a defect in metaphyseal remodeling leads to grossly widened metaphyses of long bones. Genu valgum, one of the few clinical findings in this disease, may warrant surgical intervention. Postoperative healing is documented only in Pyle's original patient. A case is presented in which bilateral osteotomies were performed through the proximal tibia for progressive genu valgum. The osteotomies healed within 12 weeks when treatment was performed with standard techniques. This information will allow osteotomies to be performed with confidence.
Nail, plate and external fixator are since decades the most frequently and stabilizers for the surgical treatment of dia- and metaphyseal fractures. These elements are still present today. However, there were important changes in recent years. Together with better knowledge and understanding of fracture healing, fracture biology, implant metallurgy and mechanics and a more and more specified application of these techniques, this resulted in improved possibilities for the treatment of injured patients. Beside an overview about the current discussion of unreamed and reamed nail insertion new trends, techniques and nails are presented for the different long bones (retrograde nails, spiral blade, flex-nail humerus and a distal aiming device (DAD) for interlocking screws). In addition, new approach techniques for nailing (stab incision) and minimally invasive percutaneous plate osteosynthesis (MIPO) for metaphyseal fractures of the proximal and distal femur and proximal tibia are described including the necessary techniques for control of axes and rotation.
We present a case of metaphyseal osteomyelitis in a child where bone scintigraphy demonstrated photopenia of the distal femoral epiphysis in the absence of infection of the epiphysis or the joint space. A subsequent bone scan demonstrated evolution of the vascular compromise of the epiphysis due to the metaphyseal osteomyelitis complicated by subperiosteal abscess. We discuss the mechanisms and implications of photopenia in the setting of acute bone and joint infection.
Schmid-type metaphyseal chondrodysplasia (SMCD) is primarily caused by mutations in the COL10A1 gene. This study reports a novel frameshift mutation, c.1940dup (p.Asn647Lysfs*2), identified in a Chinese SMCD pedigree. The mutation did not alter messenger RNA levels but significantly reduced COL10A1 protein expression. The mutant protein lacks the C-terminal 33 amino acids, resulting in a truncated polypeptide of 648 residues with a lower molecular weight than the wild-type protein. Degradation kinetics analysis showed no evidence of accelerated turnover. Notably, even under complete inhibition of degradation pathways, mutant protein expression remained substantially lower than that of wild-type, suggesting a potential defect in translational efficiency. Furthermore, the mutation severely disrupted the assembly of the characteristic collagen X trimer and led to markedly reduced extracellular secretion, as measured by accumulated protein levels in conditioned medium. These findings demonstrate that the c.1940dup mutation contributes to SMCD pathogenesis through coordinated mechanisms involving protein truncation, reduced expression, probable translational deficiency, and defective trimer formation and secretion, thereby revealing new potential therapeutic targets.
Medicine does not have its own unified body of scientific knowledge. Instead, physicians who are oriented to research make sporadic incursions into the basic sciences such as genetics, biochemistry, immunology, epidemiology, physiology, pharmacology and so on. These latter, taken together, comprise biomedicine which is said to have adopted the positivist epistemology or the Cartesian/Newtonian one that regards the scientist as an uninvolved observer of nature. In effect, medical science has come to rest on a theory of knowledge which links meaning to probability and considers prediction as the scientist's chief task. Like its predecessor, the probability theory of meaning rejects metaphysical speculation and remains connected to observations made, directly or indirectly, by means of the five senses. Despite some brilliant successes touching on relatively uncommon disorders, biomedicine cannot explain most day-to-day clinical activity. An understanding of what transpires between patient and doctor, of its diagnostic potential and therapeutic weight requires hermeneutic, or phenomenological, inquiry which brings about changes in both parties to it. Such a science, as ontological speculation has been called, cannot be deciphered by an epistemology couched in the imagery of physics and chemistry.