Metaphyseal dysplasia: A new autosomal dominant type in a large German kindred

We describe a new autosomal dominant type of metaphyseal dysplasia (MD) in five generations of a German kindred. The main characteristics are metaphys eal widening and undermodeling of the tubular bones with Erlenmeyer flask-l ike appearance of the distal femora (typical of MD), with unusually severe varus deformity of the radii and flat exostoses of the long bones localized in the metaphyses, The skull is unaffected. Allelism with craniometaphysea l dysplasia (CMD) was excluded by linkage analysis. (C) 2001 Wiley-Liss, In c.