[Spondyloepimetaphyseal dysplasia. Case report]

Skeletal dysplasia represents a wide range of congenital diseases diagnosed mostly on the basis of a clinical and x-ray picture, exceptionally on the basis of the finding of biochemical changes of metabolism (e.g. mucopolysaccharidosis). The author presents a clinical and x-ray picture of a skeletal disease in two gypsy children (brother and sister) which differed from any other regularly described congenital bone dysplasia. The mentioned finding most of all resembled a rarely described disease (or rather only theoretically presupposed) in which there occur combined symptoms of spondylo-, epi-, spondylometa- and physeal dysplasia (= spondylo-epimetaphyseal dysplasia). Apart from the clinical picture the author presents also the philosophy of therapeutical tactics. Optimal treatment depends on the experience of the physician, the clinical picture of the patient and his/her ability as well as the ability of the people round him/her to cope with the postoperative rehabilitation. The treatment must aim at ensuring for the patient the greatest possible independence and self-sufficiency, self-service and adequate work--this all of course according to his/her mental abilities, which unfortunately are due to the skeletal dysplasia usually reduced.