While the definitive presentation of the disease is a patient having bowed lower limbs and sex reversal in 46,XY males,[REF] there are other clinical criteria that can be used, absent these characteristics, to make the diagnosis.
In utero sonographic diagnosis is possible when characteristic features such as bilateral bowed femurs and tibia, clubbed feet, prominent curvature of the neck, a bell-shaped chest, pelvic dilation, and/or an undersized jaw are apparent [REF] Radiographic techniques are generally used only postnatally and also rely on prototypical physical characteristics.