Skeletal features of primary hyperoxaluria type 1, revisited.

Purpose: The purpose of this study was to describe the skeletal manifestations of primary hyperoxaluria type 1 (PH1), the most common of the primary hyperoxalurias.

Methods: We clinically and radiographically reviewed 12 consecutive patients diagnosed with PH1, aged between 2 and 17 years. All patients had evidence of some type of renal involvement, 4 of whom were at end-stage renal disease (ESRD) and were under dialysis.