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Potter syndrome
Definition
Potter syndrome and Potter phenotype refers to a group of findings associated with a lack of amniotic fluid and kidney failure in an unborn infant.
Alternative Names
Potter phenotype
Causes, incidence, and risk factors
In Potter syndrome, the primary problem is kidney failure. The kidneys fail to develop properly as the baby is growing in the womb. The kidneys normally produce the amniotic fluid (as urine).
Potter phenotype refers to a typical facial appearance that occurs in a newborn when there is no amniotic fluid. The lack of amniotic fluid is called oligohydramnios. Without amniotic fluid, the infant is not cushioned from the walls of the uterus. The pressure of the uterine wall leads to an unusual facial appearance, including widely separated eyes .
Potter phenotype may also lead to abnormal limbs, or limbs that are held in abnormal positions or contractures.
Oligohydramnios also stops development of the lungs, so the lungs do not work properly at birth.
Symptoms
- Widely separated eyes with epicanthal folds, broad nasal bridge, low set ears, and receding chin
- Absence of urine output
- Difficulty breathing
Signs and tests
A pregnancy ultrasound may show lack of amniotic fluid, absence of fetal kidneys, or severely abnormal kidneys in the unborn baby.
The following tests may be used to help diagnose the condition in a newborn:
Treatment
Resuscitation at delivery may be attempted pending the diagnosis. Treatment will be provided for any urinary outlet obstruction.
Support Groups
Expectations (prognosis)
This is a very serious condition, usually deadly. The short term outcome depends on the severity of lung involvement. Long term outcome depends on the severity of kidney involvement.
Complications
Calling your health care provider
Prevention
There is no known prevention.
References
Elder JS. Congenital anomalies and dysgenesis of the kidneys. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 537.
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