[A case of chondrodysplasia. Dolichomelic spondylo-epiphyseal chondrodysplasia].
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.
D000293:Adolescent; D000886:Anthropometry; D002574:Cervical Vertebrae / Q000000981:diagnostic imaging; D006801:Humans; D007866:Leg / Q000002:abnormalities; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D008683:Metatarsophalangeal Joint / Q000002:abnormalities; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging / Q000235:genetics*; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging
Su di un caso di condrodisplasia. Condrodisplasia spondiloepifisaria dolicomelica.