I am trying to find some information on Potter's Syndrome. How often does it occur? Is it a genetic abnormality? What are its charecteristics? Are there any cases where a fetus diagnosed with it has survived past birth? How could a misdiagnosis of this syndrome be made? Any information you could give me would be helpful. Thank you, Paula
As noted in the earlier response by my colleague, Potter's syndrome is a condition reflecting fetal compression because of an extreme lack of amniotic fluid. Because of insufficient fluid in the amniotic sac, whether due to failure of renal (kidney) development or leakage of fluid, the lungs fail to develop and death results from pulmonary insufficiency. Alterations of the appearance of the face and limb defects also characteristically occur.
Potter's syndrome is uncommon. Nowadays, given the use of prenatal ultrasound, problems of renal development can be detected before delivery. Although renal agenesis is untreatable, other problems compatible with survival which involve only a single kidney can be anticipated and managed in a timely way to limit harm to the newborn.
When an infant is delivered with Potter's syndrome, ultrasound evaluation of parents and siblings is important. One study showed nearly a tenth of first-degree relatives had asymptomatic renal malformations.
A less extreme deficiency of amniotic fluid could lead to some fetal compression and thus alteration of appearance without being lethal. It is important to consider other deformation and malformation syndromes in such an instance. The assistance of a dysmorphologist is invaluable here.
I hope this response is useful. It is provided for educational purposes only.
KEYWORDS: Potter's syndrome, renal agenesis
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