Abstract

We report two cases of renal tubular dysgenesis (RTD) with calvarial hypoplasia and review the originally reported cases of RTD that came from our institution and published reports regarding the association of RTD and skull abnormalities. Although previously reported in association with RTD, calvarial hypoplasia is probably under-recognised. The cases reported here support the idea that the skull abnormalities observed in the inherited form of renal tubular dysgenesis are a common component of the disorder, as they are in the acquired form of RTD associated with maternal use of ACE inhibitors. Renewed attention to this clinical manifestation of RTD may be important in suggesting the diagnosis before death, providing more complete information to parents and physicians facing important management decisions and ensuring appropriate pathological examination postmortem.