[Chondroplasia punctata (author's transl)].
The rare condition of chondroplasia punctata is illustrated by two patients. The very different manifestation and course of the disease in these two patients confirms Spranger et al's (1971) view that it is an heterogeneous disease which can be divided into two types. The rhizomelic type is characterised by well marked punctate cartilage calcification, shortening of the extremities, deformities of the metaphyses and epiphyses, frequent cataracts and a fatal outcome. In the Conradi-Hünermann-type the changes are less marked and the patients may survive. In order to classify the disease correctly, radiological examination in early childhood is desirable.
D002114:Calcinosis / Q000000981:diagnostic imaging; D002358:Cartilage, Articular / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002806:Chondrodysplasia Punctata / Q000145:classification / Q000000981:diagnostic imaging* / Q000401:mortality / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D011859:Radiography
Die Chondroplasia punctata.