Cantatore F P, Carrozzo M, Martino F
Minerva Med. 1983 Mar 10;74(9-10):473-8.
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.
一名16岁患者,表现为弥漫性扁平椎体、胸廓短小以及股骨头明显发育不良。该患者未出现内脏、精神、血浆或内分泌方面的改变。作者强调了该病例的不寻常之处,与所描述的脊椎骨骺发育不良的常见模式相比,该患者身材正常;事实上,在典型病例中,总体身材仍然矮小。据作者称,该病例身材正常可能与患者呈现的脊髓过长有关。由于未观察到内分泌异常且从未进行过激素治疗,这种脊髓过长难以解释。最后详细讨论了该疾病的病程和预后。