Chondrodystrophia Calcificans Congenita

Abstract

A case of chondrodystrophia calcificans congenita in a newborn infant, born of a hypothyroid mother who had episodes of tetany during pregnancy, is reported. On the basis of a review of significant findings in 88 cases reported in the world literature the following conclusions are drawn. Chondrodystrophia calcificans congenita is a disorder that is well established at the time of birth. The diagnosis is based primarily on roentgenologic findings; it may be missed either if insufficient indication for radiologic investigation is present or if radiologic investigation is delayed beyond 4 years of age, when the epiphyses begin to fuse. A possible relationship between this disorder and dysplasia epiphysialis multiplex is indicated by the similarity in the radiologic features of each and the inability to differentiate between the two, once epiphysial fusion has commenced. One wonders whether the reported cases of dysplasia epiphysialis multiplex may represent partial fusion in chondrodystrophia calcificans congenita. Further pathologic investigation is necessary to elucidate this point. Maternal hypothyroidism may have a teratogenic role in this disorder, as in other congenital anomalies. In those patients surviving infancy and childhood, the prognosis for useful function is good if anomalies of other systems are not present. The skeletal deformities can be managed by orthopedic surgery, and the cataracts can be extirpated.