The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult.
We describe a mother and infant girl with the Jansen type of metaphyseal chondrodysplasia. The transmission of the syndrome from mother to daughter in this family establishes this as a dominant condition. Characteristic radiographic manifestations of the disorder were obvious at birth. The mother and infant illustrate the two extremes of age where the radiographic manifestations are less characteristic than in middle childhood, since the marked metaphyseal calcifications are absent.
D000328:Adult; D000367:Age Factors; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography