On a peculiar type of achondroplasia (osteochondrodysplasia congenita)

ABSTRACT

A newborn female with all the manifestations of osteochondrodystrophy and with post mortem findings is presented. The case is characterized by extremely short and bowed shafts of all long bones, like those observed on Moqruio-Brailsfords diseases. Symptoms and radiologic and histologic changes are described. This case seems to be the first of this kind with observation of already well developed bony and cartilaginous changes in the newborn. There is, however, no history of familial incidence in our case. (Summary and Conclusions)