title: Metaphyseal dysplasia: a new autosomal dominant type in a large German kindred.
abstract: We describe a new autosomal dominant type of metaphyseal dysplasia (MD) in five generations of a German kindred. The main characteristics are metaphyseal widening and undermodeling of the tubular bones with Erlenmeyer flask-like 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 craniometaphyseal dysplasia (CMD) was excluded by linkage analysis.
authors.affiliation: Bad-Bevensen, Germany.
authors.forename: H S
authors.initials: HS
authors.lastname: Braun
authors.forename: P
authors.initials: P
authors.lastname: Nürnberg
authors.forename: S
authors.initials: S
authors.lastname: Tinschert
mesh_terms: D002648:Child; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging*; D005260:Female; D005269:Femur / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005799:Genes, Dominant; D008040:Genetic Linkage; D005858:Germany; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D011884:Radius / Q000002:abnormalities* / Q000000981:diagnostic imaging