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    Potter syndrome

    Potter phenotype

    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.

    Causes

    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

    Exams 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:

    • X-ray of the abdomen
    • X-ray of the lungs

    Treatment

    Resuscitation at delivery may be attempted pending the diagnosis. Treatment will be provided for any urinary outlet obstruction.

    Outlook (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.

    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. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 531.

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    • Amniotic fluid

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    • Broad nasal bridge

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      • Amniotic fluid

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      • Broad nasal bridge

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      A Closer Look

        Self Care

          Tests for Potter syndrome

            Review Date: 8/2/2011

            Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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            St. Luke's Hospital - 232 South Woods Mill Road - Chesterfield, MO 63017 Main Number: 314-434-1500 Emergency Dept: 314-205-6990 Patient Billing: 888-924-9200
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