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[Changes in the epiphysis and epiphyseal plate in systemic and genetically-induced diseases].

Systemic disorders of the skeleton have either a primary or endogenous, mostly heritable cause like osteochondrodysplasias or they are secondarily or exogenously caused by pathologic influence of the metabolic or endocrine system. The functional unit of growth plate and epiphysis is frequently the target organ of these pathologic influences. The pathogenetic effect on the skeleton is manifested as a disturbance of growth and as an epiphyseal deformity and structural change. Here one must take in consideration the fact that these pathological influences affect not only the epi-and apophyses of tubular bones but also those of the skull, the pelvis and the spine. Because of that and because of the unequal quantitative effect of growth at different growth plates and the chronological different developmental state of the epiphyses, very variable disorders are the result. Disturbances of growth lead to proportional or disproportional short or tall stature. Epiphyseal deformations may have the consequence of contractures and early osteoarthritis. Joint replacement at the hips and knees is inescapable and requires, because of the diminutive skeletal proportions, a special custom -made prosthetic device. Slight epiphyseal deformities, like cone shaped epiphyses, result not so much in functional disturbance but may rather be used as a diagnostic clue. By means of the most typical and important systemic skeletal disorders the pathogenetic principles are discussed.

Adolescent↗

[Size and localization of exposed bone surfaces in advanced degenerative changes of the femur head].

Area and localization of bone exposure are examined in 37 femoral heads being removed for total arthroplasties. Both are inhomogeneous and show no relation to the duration of clinical complaints nor the changing of stress following limitation of motion or contracture. There have been numerous descriptions of the stress on femoral heads and the location of degenerative cartilage disease in zones of more or less stress, however all theories can be verified or disproved by the types of localization of bone exposure described. The theory that loss of cartilage is not as much due to stress but to chemical alterations cannot be confirmed. A new theory including all observations or a schema of localization of progressive degenerative disease cannot be presented for the present.

Aged↗

Diastrophic dwarfism.

Diastrophic dwarfism is an unusual variety of short-limb dwarfism characterized by the pathognomic triad of ear calcifications, hitch-hiker thumbs, and severe clubfoot. Other clinical features include joint contractures and subluxations, symphalagism of the fingers, kyphoscoliosis, hip dysplasia, and occasional cleft palate. Radiographic findings include flaring of the metaphyses of tubular bones and flattened epiphyses which appear late. The major orthopedic problem in diastrophic dwarfism is correction of the recalcitrant clubfoot deformity; cervical spine subluxation or kyphoscoliosis may also require intervention. This disorder is inherited as an autosomal recessive condition.

Bone and Bones↗

The axial mesodermal dysplasia spectrum.

Features of both the Goldenhar and the caudal regression syndromes were found in the patient described. A search of the literature revealed two other patients having both conditions. However, a number of other individuals have been reported with Goldenhar or related syndromes who have malformations in the caudal region or, conversely, who have the caudal regression syndrome and possess cranial anomalies. Possible explanations for the commonality of malformations seen in these syndromes are presented and discussed. It is suggested that the term, "axial mesodermal dysplasia spectrum" be used in patients manifesting this overlap to emphasize the importance of searching for the other malformations seen in this spectrum of anomalies.

Abnormalities, Multiple↗

Surgical treatment of congenital convex pes valgus.

Congenital convex pes valgus is a rare, complex and heterogeneous anomaly of the foot, which is difficult to treat. From 1985 to 1994, we treated 14 patients (20 feet) with this deformity. There were six boys and eight girls. Six patients had bilateral involvement. Their ages at the time of surgery ranged from 4 to 32 months (mean, 13 mo). In eight patients (10 feet), the etiology was arthrogryposis multiplex congenita. The eitiology was unknown in six patients (10 feet). Associated problems included hip dislocation in seven patients, flexion or extension contractures of the knee in six patients, and clubfoot deformity in three patients. One patient had undergone previous surgery for release of a knee contracture. To achieve a plantigrade and balanced foot, all patients had one-stage surgical open reduction and circumferential release for the correction of deformities. At a minimum of 2 years following surgery, 11 patients (16 feet) had satisfactory results determined by a 10-point evaluation system based on both clinical and radiographic features. Satisfactory results and ambulatory prognosis were related to the etiology and severity of each patient's condition. Two patients (two feet) had scars with poor cosmetic appearance and two patients (three feet) had inadequate correction. We concluded that with adequate soft tissue release and complete talocalcaneonavicular joint reduction in one-stage surgery, proper postoperative maintenance, and physical therapy, satisfactory results in the treatment of congenital convex pes valgus can be achieved.

Arthrogryposis↗

[Treatment experience with chronic spinal pain in involutional osteoporosis].

The back pain syndrome which accompanies involutional osteoporosis presents a marked heterogeneity. Acute pain may be due to vertebral fractures, whereas chronic pain may eventually accompany established osteoporosis in which clinical and instrumental evidence are present. Back pain is the consequence of the mechanical (internal or external pressure) or chemical stimulation of pain receptors present in bone tissue, along the vessels, in cartilage, joints, disk, ligaments, and also in soft tissue and muscle (with secondary antalgic contracture). The compression of spinal nerves may contribute to the pain as well. An evident alteration of mood is usually present and represents an important element in the syndrome. This phenomenon interferes with the evolution of pain, in particular as regards its intensity. Besides scales for the evaluation of pain and inability, it is possible to check objective data by means of particular algometers (not easy to employ) or by electromyographic measurements of antalgic secondary contracture of spinal muscle. Gait examination (basography) of patients with painful hip prosthesis may provide objective evaluation regarding specific antalgic activity on bone of drugs. Usually the effective drugs for osteoporosis possess antalgic properties as well, with different mechanisms of action. Three drugs with evident activity are taken into consideration: calcitonin, ipriflavon, aminobutane-bisphosphonate (alendronate). Though each of them possesses some particular activity, the main mechanism of action is dependent on their effect on the local microenvironment, particularly at the level of bone tissue (calcium, cytokine and prostaglandin local concentration), on the modulation of osteoclast activity. In particular alendronate (intermittently administered intravenously) exerts the most evident antalgic activity. Subjective chronic back pain relief is accompanied by (secondary) reduction of antalgic contracture at vertebral muscle level. The activity of the substance against the painful hip prosthesis (documented by basographic gait recording) leads us to conclude that the substance really exerts a direct antalgic action at the level of bone tissue.

Analgesics↗