Autosomal dominant brachyolmia: transient metaphyseal striations

Abstract

We report transient proximal and distal femoral metaphyseal striations that have not previously been described in autosomal dominant brachyolmia. The pelvis/hip radiograph of a 13-year-old boy demonstrated bilaterally symmetrical proximal femoral metaphyseal vertical striations. Additional vertical striations were also observed at the distal femur and proximal tibia metaphysis. Radiography of the thoracolumbar spine demonstrated platyspondyly with irregular endplates and overfaced pedicles. TRPV4 mutations were confirmed in this patient. Similar proximal femoral metaphyseal vertical striations were noted in the patient's sibling. Those streaks disappeared on the follow-up radiographs, and we considered it a unique radiologic finding transiently observed in autosomal dominant brachyolmia.

http://link.springer.com/10.1007/s00256-017-2684-8