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    The 'skipped generation' phenomenon in a family with renal agenesis.

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    Renal agenesis may be unilateral or bilateral, isolated or associated with anomalies of the internal genitalia or other systems. Renal anomalies are often considered sporadic. Because of their variable expressivity, only a few cases of affected relatives have been reported. In 1934, Madisson first described affected sibs 1 ; since then more than 70 familial cases have been reported 2 – 15 . There are no consistent phenotypic differences between sporadic and familial renal agenesis. Even if pedigrees suggestive of autosomal-recessive 8 , multifactorial 9 , Xlinked and polygenic 10 inheritance have been reported, the majority appear consistent with an autosomal-dominant inheritance with incomplete penetrance (50–90%) and variable expressivit

    Additional investigation on the potentiation of phenytoin teratogenicity by fluconazole.

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    Fluconazole (FCZ) is a potent inhibitor of the cytochrome P450 (CYP)-mediated metabolism of the anti-epileptic agent phenytoin (PHT), a well-known human and animal teratogen. It has been postulated that phenytoin must be bioactivated via the CYP system to initiate teratogenesis. In contrast with this view, FCZ pretreatment has been previously shown to result in a potentiation of PHT teratogenesis. The current study was initiated to determine the impact of FCZ pretreatment on PHT exposure levels in maternal and embryonal compartments. HPLC analysis revealed that under a co-dosing FCZ-PHT regimen resulting in enhanced PHT teratogenesis, statistically significant higher PHT levels are detectable in maternal plasma and embryonic tissue in comparison to controls. These results further argue against a role for CYP system in teratogenic bioactivation of PHT
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