Abstract
1. The patient, who at the age of ten and a half years was described by Jánsen as the first recorded case of metaphysial dysostosis, has been re-examined at the age of forty-four and the clinical, pathological and radiological findings at various ages have been compared. Measurements have been compared with those obtaining in normal individuals.
2. The striking feature is the development of normal bony structure associated with marked deformity and dwarfing. Joint surfaces have remained intact.
3. There is some deafness, which is partly caused by sclerosis of the petrous temporal bone.
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