[Radius-femoral dysplasia. A new form of hereditary metaphyseal dysplasia].
Höhle and Braun described a new form of hereditary metaphyseal dysplasia. It is characterized by changes in distal metaphyses of femoral bones which are formed as Erlenmeyer flasks, further by club-shaped dysplasias of the metaphyses of the other long bones, absence of skeletal hyperostosis and by characteristic varus-deformations of radial bones. An extensive family history research showed that the oldest carriers of these anomalies came from a small town in northern Bohemia. Completely identical case reports were published describing the carriers of metaphyseal dysplasia characters whose origin was also traced to the same region. The authors aim at drawing attention to this new disease, finding more carriers of metaphyseal dysplasia characters and at giving an impulse to an extensive research into this extremely systemic rare bone disease.
Braun
H S
HS
Benes
P
P
Höhle
B
B
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D005260:Female; D005269:Femur; D006801:Humans; D010375:Pedigree; D011884:Radius
Radio-femorální dysplazie. Nová forma hereditárních metafyzárních dysplazií.