Authors: S. Macháček Authors‘ workplace: Revmatologický ústav Praha, ředitel doc. MUDr. K. Pavelka, CSc. Published in: Čes. Revmatol., , 1999, No. 1, p. 38-42. Category:
Inborn developmental skeletal defects are rather rare. They form a heterogeneous group of diseasesas regards clinical manifestations and pathogenesis. Investigations of skeletal dysplasias revealednew findings thanks to the development of molecular biology. Better prenatal diagnosis increasesthe probability of their early detection. Causal treatment is however not possible so far and themajority of patients must rely on symptomatic treatment, as apparent from the case-record ofa patient with spondyloepiphyseal dysplasia.
Key words: skeletal dysplasia, prenatal diagnosis, spondyloepiphyseal dysplasia
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