Two cases of spondylo-epiphyseal dysplasia. Comparison between congenita and tarda.
نویسندگان
چکیده
منابع مشابه
6.4 Spondylo-epiphyseal dysplasia – a physiotherapy approach
Materials and methods A retrospective review was completed on 6 cases of SED. All physiotherapy assessments of joint range of movement, muscle strength, balance and gait were included. The physiotherapy programme included stretches to restricted joints and a progressive resisted strengthening programme (high repetitions and low resistance weights) completed into the full range of movement of mo...
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In two litters from the same parents, three out of four males had an abnormally short leg and body length. Affected dogs showed signs of pain when moving, which could be eliminated by analgesia. On radiography, these animals had widened, radiolucent, irregularly bordered intervertebral disc spaces. When examined at seven months of age, the epiphyses appeared widened and irregular in shape and o...
متن کاملWhole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo-epiphyseal dysplasia congenita.
Skeletal dysplasia is a group of disorders with more than 450 entities, many of which cannot be differentiated, especially during infancy, but could lead to different clinical courses and prognoses. In this study, we have described a case of a Thai infant with short stature, flat face, pectus carinatum, indirect inguinal hernia, platyspondyly, and generalized delayed endochondral ossification. ...
متن کاملSpondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance.
Fifteen patients with an inherited skeletal dysplasia which is considerably more crippling than the usual form of spondylo-epiphysial dysplasia tarda are presented. The disorder has a striking clinical, though not radiological, resemblance to rheumatoid arthritis but with the addition of platyspondyly. It has not previously been described, although it is possible that the case referred to by Ma...
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ژورنال
عنوان ژورنال: Orthopedics & Traumatology
سال: 1990
ISSN: 1349-4333,0037-1033
DOI: 10.5035/nishiseisai.39.695