Transvaginal sonography of the brain was entirely normal. Based on these findings, interruption of pregnancy was offered and accepted by the couple. The X-ray of the fetus depicted increased bone density and rib fractures. Histologic examination confirmed the diagnosis. There were no other malformations on the autopsy, except for the skeletal changes.
Arrows point to osteoclasts.
Toluidine blue x 600. Toluidine blue x 1000. The chance of diagnosing such a case during routine ultrasonographic screening is extremely low. Early diagnosis is crucial, but only in severe cases would prenatal diagnosis be possible. El Khazen et al. 1 described two cases.