Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case
This case report describes a patient who suffered from backache at the age of 12 years. The initial diagnosis was Scheuermann's disease but repeated examinations showed a progressive discitis, without signs of arthritis of the sacro-iliac joints. There was also a recurring effusion of the left knee. Three years later the clinical and radiological evaluation showed irreversible immobilisation of the dorsolumbar spine, whereas the sacro-iliac joints were mildly affected. Discitis seems to be a rare early symptom of ankylosing spondylitis.
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