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PubMed · 8142235

Potter sequence and consanguinity--a case report.

B R Fischler·U B Berg
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Abstract

The first child of first-cousin parents had Potter sequence, including rudimentary, dysplastic kidneys and pulmonary hypoplasia. The girl died after 5 h. During the next pregnancy, early fetal ultrasound was normal. In the 33rd week, however, ultrasound revealed oligohydramniosis and reduced renal size. After 40 weeks of gestation a healthy girl of normal weight without any stigmata was born. Her pulmonary function and X-ray were normal. Renal ultrasound demonstrated small kidneys with high echogenicity. There was a transient renal insufficiency with a peak serum creatinine of 160 mumol/l. At 5 months of age the infant still has an increased serum creatinine concentration of 57 mumol/l and an inulin clearance of 29 ml/min per 1.73 m2. In this case there is a possibility of an autosomal recessive inheritance.

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Abnormalities, MultipleConsanguinityCreatinineFatal OutcomeFemaleHumansInfant, NewbornKidneyLungOligohydramniosPregnancyUltrasonography, PrenatalCase ReportsJournal Article

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B R Fischler, U B Berg. 1994. Potter sequence and consanguinity--a case report.. https://doi.org/10.1007/bf00868274

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