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  • Title: [A case of chondrodysplasia. Dolichomelic spondylo-epiphyseal chondrodysplasia].
    Author: Cantatore FP, Carrozzo M, Martino F.
    Journal: Minerva Med; 1983 Mar 10; 74(9-10):473-8. PubMed ID: 6403894.
    Abstract:
    A case of late spondyloephiphyseal chondrodysplasia is described: a 16-yrs patient showing a diffused platyspondyly with a short thorax plus a remarkable dysplasia of femoral heads. The patient exhibited no internal organs, psychical, plasma, or endocrine alterations. The Authors stress the unusual aspect of the case, which exhibited normal stature in comparison with the usual pattern of spondyloepiphyseal chondrodysplasia described; in fact in the typical cases the general stature remains short. According to the Authors, the normal stature of this case might be related with the dolichomyelic aspect presented by the patient. This dolychomyelia is difficult to explain since endocrine abnormalities were not observed and hormone therapy have never been performed. Finally the course and prognosis of this disease is discussed in detail.
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