RENAL TUBULAR DYSGENESIS WITH CALVARIAL HYPOPLASIA - REPORT OF 2 ADDITIONAL CASES AND REVIEW

We report two cases of renal tubular dysgenesis (RTD) with calvarial h ypoplasia and review the originally reported cases of RTD that came fr om our institution and published reports regarding the association of RTD and skull abnormalities. Although previously reported in associati on with RTD, calvarial hypoplasia is probably under-recognised. The ca ses reported here support the idea that the skull abnormalities observ ed in the inherited form of renal tubular dysgenesis are a common comp onent of the disorder, as they are in the acquired form of RTD associa ted with maternal use of ACE inhibitors. Renewed attention to this cli nical manifestation of RTD may be important in suggesting the diagnosi s before death, providing more complete information to parents and phy sicians facing important management decisions and ensuring appropriate pathological examination postmortem.