Results 141 to 150 of about 1,547 (171)
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Articular Degeneration as a Sequela of Osteochondrodysplasias
Clinics in Rheumatic Diseases, 1985R Stanescu, Pierre Maroteaux
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Osteochondrodysplasia in Fryns Syndrome
Archives of Pediatrics & Adolescent Medicine, 1991Various skeletal abnormalities have been identified in roentgenograms of persons with Fryns syndrome, but to our knowledge, no histopathologic description of bone or cartilage has been published. We describe disordered endochondral and intramembranous bone formation in a premature female infant with Fryns syndrome.
M M, Kershisnik +4 more
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Blomstrand lethal osteochondrodysplasia
American Journal of Medical Genetics, 1996We present the clinical, roentgenographic, and histologic abnormalities in a stillborn infant with Blomstrand osteochondrodysplasia. Parental consanguinity and multiplex occurrence in the patients' sibship confirm the hypothesis of autosomal recessive inheritance of this monogenic lethal entity.
Leroy, Jules G. +4 more
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Osteochondrodysplasia in Scottish Fold cats
Australian Veterinary Journal, 1999ObjectiveTo better characterise the bone and joint problems which can develop in Scottish Fold cats.DesignRetrospective study of cases seen in five veterinary clinics and radiographic survey of cats in a cattery.ResultsSix Scottish Fold cats (four castrated males, two spayed females) aged between 5 months and 6 years were presented for signs of ...
R, Malik +6 more
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Osteochondrodysplasias in South Africa
American Journal of Medical Genetics, 1996Jürgen Spranger's visit to the University of Cape Town in 1974 provided impetus for the establishment of a bone dysplasia registry. By 1996 more than 2,500 affected persons had been documented and radiographs and DNA had been obtained in many instances.
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Pathogenic mechanisms in osteochondrodysplasias.
The Journal of Bone & Joint Surgery, 1984We performed histochemical, immunohistochemical, electron-microscopic, and microchemical studies on cartilage growth plates from sixty-eight patients with nineteen different forms of human osteochondrodysplasia. Cartilage biopsies were obtained during orthopaedic procedures. Postmortem specimens were obtained within a short time after death.
V, Stanescu, R, Stanescu, P, Maroteaux
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Cervical Abnormalities in Osteochondrodysplasia
1988Eighty-five children were treated for spinal deformities occurring in conjunction with osteochondrodysplasia; 11 patients revealed metabolic disorders (mucopolysaccharidosis) and were excluded from this series. Of the remaining 74 children with multiple types of osteochondrodystrophy, 13 had achondroplasia and 2 pseudo-achondroplasia (Table).
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Radiological aspects of the vertebral components of osteochondrodysplasias
The British Journal of Radiology, 1977Analysis of the individual components of the vertebrae permits the radiologist to identify and understand the fundamental physio-pathologic growth mechanisms affecting shape, size and architecture which operated during development. The achievement of this goal is facilitated by systematically paying attention to changes of the vertebral end-plates ...
S, Schorr, C, Legum
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Congenital hypertrichosis, cardiomegaly and mild osteochondrodysplasia
American Journal of Medical Genetics, 1996We report on a boy with congenital hypertrichosis, cardiomegaly and a mild osteochondrodysplasia, a rare syndrome of which there is only one previous report [Cantú et al., Hum Genet 60:36-41, 1982]. In all, five patients now are known to have this syndrome (2 females, 3 males).
N C, Nevin, H C, Mulholland, P S, Thomas
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