Renal tubular dysgenesis with calvarial hypoplasia:

We report two cases of renal tubular dysgenesis (RTD) with calvarial hypoplasia and review the originally reported cases ofRTD 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 ofrenal 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 inportant management decisions and ensuring appropriate pathological examination postmortem. (JMed Genet 1997;34:846-848)