[Early diagnosis of constitutional developmental bone diseases].
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It is the purpose of this study to describe the orthopaedic features of Nasu disease or membranous lipodystrophy based on the observation of a rare clinical case of the pathology and on a review of the international literature. The case described is probably the first to have been observed in Italy, and may be added to the 80 cases currently known to exist the world over. The disease affects young adults and involves pathologic fractures, as well as psychological and neurological disorders. It is currently of unknown etiology and its course is progressive until the death of the subject. The radiological aspect shows metaepiphyseal polycystic lesions of the long bones, with a tendency to expand, and involvement of the cortex. Causal treatment of the disease is currently not possible. The authors emphasize that differential diagnosis involving other diseases having a similar anatomopathological picture may be obtained, and they propose several suggestions for orthopaedic treatment based on their own experience.
Limb angulation in foals may be due to defects in epiphyseal growth plates. The present state of knowledge concerning rate of growth in foals and differences in growth of different epiphyseal plates is reviewed and the importance of accurate knowledge of these parameters in treatment of angulation by unilateral retardation of an epiphyseal growth plate is stressed. Retardation of epiphyseal plate growth by compression wiring is described and its advantages in comparison with staplings are suggested. Compression wiring was used in 3 cases in which age, bone width and the degree of angulation were known so that the probable rate of bone growth could be assessed and the necessary unilateral bone increment could be calculated. It is suggested that further measurements of these parameters prior to growth plate retardation would give a more accurate comparison of the benefits of stapling and compression wiring.
The most commonly encountered nutritional bone disease is nutritional secondary hyperparathyroidism. This is primarily of importance in the dog but is occasionally seen in kittens, particularly of the Siamese breed, and is often associated with the feeding of owner compiled, meat-rich diets. Classic rickets is now a rare clinical entity. Hypertrophic osteodystrophy is regularly seen in the larger breeds of dog and the aetiology remains obscure. Hypervitaminosis A associated with liver-rich diets is often encountered in the cat. Hypovitaminosis A has been described but its true clinical significance is unknown.
Chondro-osseous tissue from four patients with the Kniest dysplasia was studied histochemically using a new plastic embedding technique. Extensive vacuolar changes were observed p--1 throughout the endochondral growth plate and adjacent resting cartilage. These changes occurred within the cartilage matrix and also in the lacunae of degenerating chrondrocytes. The septa of the lesions contained chondroitin sulfate, but little keratan sulfate or collagen. Resting cartilage not adjacent to the growth plate stained irregularly and showed few of the vacuolar lesions, and chondrocytes were enlarged and contained cytoplasic inclusions, but no vacuolar material. Thus, there appears to be a sequence of events initiated by cellular accumulation of a substance and progressing to cellular and matrix degeneration.
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The material consisted of 2,950 broilers of the variety Hybro Compact of two lines. An equal number of birds of both lines were given either a high energy feed (H) or a low energy feed (L), containing all nutrients known to be required by broilers. During the first 3 weeks, H and L starter feeds were given and thereafter H and L finishing feeds. At 21, 35, and 45 days of age, the birds were weighed in groups, and feed conversion calculated. At 21 days of age, the frequency of crooked toes and swollen hocks was registered. Birds were taken from each group for necropsy at regular intervals. Both clinically normal birds and those with locomotor disturbances were selected for necropsy, including radiographic examination. With the exception of 240 birds, which were kept for a long-term study, the birds on the H feed were slaughtered at 42 days of age and the ones on the L feed at 49 days of age. The long-term birds were slaughtered at regular intervals, weighed, and necropsied. The last birds were slaughtered at 134 days of age. A large number of skeletal lesions were found. They were: Twisted legs, slipped tendons, crooked toes, bowing of the proximal tibia, dyschondroplasia at different sites, fracture of the fibula, deformity of the spine, deviated sternum (with breast blisters), arthritis, and osteomyelitis. Leg weakness was found to be almost synonymous with skeletal deformities. Other causes were rare. The normal development and morphology of the skeleton and the morphology of tibial dyschondroplasia were the same as those previously described in the turkey. Dyschondroplasia was found not only in the proximal tibia but also in the distal tibia, proximal tarsometatarsus, proximal and distal femur, and to some extent also in the costochondral junction. Tibial dyschondroplasia was more common in the birds on the H feed than in the birds on the L feed. Hence, tibial dyschondroplasia was correlated with rapid growth. The other skeletal lesions did not differ in incidence in the birds on the H and L feeds. It was postulated that greater difference in growth rate is necessary for a demonstration of a possible correlation between skeletal deformities and growth rate.
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A case of the Hajdu-Cheney syndrome in a 15 year old boy is described. The manifestations were: 1. isiopathic progressive acro-osteotions; 2. mutiple cranio-skeletal abnormalities; and 3. polycystic kidneys complicated by a rapidly progressive glomerulonephritis.
The phalangeal cone shaped epiphysis of the hands (PhCSEH) observed in the extended Saldino-Mainzer syndrome (SMS), including nephronophthisis, are typed in accordance with standard tables. Of the more than 40 known types, type 28 and/or 28A were found in all eight cases available for analysis, frequently also associated with types 38, 38A, 37 and others. Similar PhCSEH are also observed in asphyxiating thoracic dysplasia (ATD), as well as in some cases of peripheral dysostosis combined with dwarfism. The striking similarity of the PhCSEH formula in our eight cases and of some cases of ATD, all suffering from chronic renal disease, suggests a common pathogenetic pathway of these conditions. The collective name of "conorenal syndromes" is suggested.
Four cases of idiopathic acroosteolysis are reported. The first is a common phalangeal type, the second, the Hozay variety. The third case was diagnosed after a mumps infection, and marked regress of the changes was noted in the following years. The fourth case shows skin changes, periostitis, mild osteosclerosis, and skull changes as well as acroosteolysis.