Inborn developmental skeletal defects are rather rare. They form a heterogeneous group of diseases as regards clinical manifestations and pathogenesis. Investigations of skeletal dysplasias revealed new findings thanks to the development of molecular biology. Better prenatal diagnosis increases the probability of their early detection. Causal treatment is however not possible so far and the majority of patients must rely on symptomatic treatment, as apparent from the case-record of a patient with spondyloepiphyseal dysplasia.

        Key words: skeletal dysplasia, prenatal diagnosis, spondyloepiphyseal dysplasia