Chondrodysplasia punctata. Report of two cases

Abstract

Chondrodysplasia punctata is a rare familial disorder characterized by punctate calcifications in the epiphyseal regions. The radiological picture is typical, but early diagnosis is important as the characteristic calcifications disappear within the first year of life. Three subtypes with different clinical, radiological, and hereditary characteristics have been separated. Detailed diagnosis is crucial for effective genetic counselling. However, the autosomal dominant Conradi-Hünermann type is very heterogeneous and a lethal nonrhizomelic subtype has been suggested as well. Two cases of chondrodysplasia punctata are presented to demonstrate the wide range of radiological appearances. One of the cases represents the Conradi-Hünermann type and the other may represent the lethal nonrhizomelic subtype of Conradi-Hünermann.