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Metaphyseal dysplasia, Braun-Tinschert type
Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.
ORPHA:85188
It has been described in four German families originating from the same town in Bohemia and in a 7-year-old Japanese girl.
Erlenmeyer flask deformity is also a prominent feature of the autosomal recessive Pyle type of metaphyseal dysplasia (see this term). The two conditions can be distinguished by the mode of inheritance and by the presence of the marked varus deformity of the distal part of the radii in Braun-Tinschert metaphyseal dysplasia.
Transmission of metaphyseal dysplasia, Braun-Tinschert type is autosomal dominant.
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