Potter Syndrome Clinical Presentation

Updated: Jan 21, 2015
  • Author: Sushil Gupta, MD; Chief Editor: Craig B Langman, MD  more...
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Presentation

History

Features of the history in Potter syndrome may include the following:

  • Antepartum period (Findings of either of the historical factors below requires close follow-up of the neonate during the prenatal and neonatal periods).

    • History of oligohydramnios

    • History of prenatal ultrasonography that reveals renal agenesis or evidence of hydronephrosis (obstructive uropathy) or other renal disorders

  • Neonatal period

    • Absence or paucity of urine output during the neonate's initial 48 hours life

    • Respiratory distress

    • Lack of proper force in the urinary stream in neonates with posterior urethral valves

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Physical

Findings at physical examination may include the following:

  • Potter facies: Affected infants have a flattened nose, recessed chin, prominent epicanthal folds, and low-set abnormal ears.

  • Pulmonary hypoplasia: The degree of pulmonary hypoplasia depends on the degree and duration of oligohydramnios, as well as the stage of lung development at which oligohydramnios occurs.

  • Features of Eagle-Barrett (prune belly) syndrome: This is an occasional cause of the Potter syndrome. Neonates have a deficient abdominal wall, undescended testes, dilated ureters, and a renal pelvis [40, 41] .

  • Skeletal malformations: Hemivertebrae, sacral agenesis, and limb anomalies may be present [2] .

  • Ophthalmologic malformations: Cataract, angiomatous malformation in the optic disc area, prolapse of the lens, and expulsive hemorrhage may be present [42] .

  • Cardiovascular malformations: Ventricular septal defect, endocardial cushion defect, tetralogy of Fallot, and patent ductus arteriosus may be present [38] .

  • A study of thirty cases of arthrogryposis associated with longstanding oligohydramnios were identified among 2,500 cases of arthrogryposis and were reviewed for clinical features and natural history. Potter facies and remarkable skin changes were present in all cases. [43]

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Causes

Causes of Potter syndrome may include the following:

  • Bilateral renal agenesis

  • Cystic kidney diseases

    • Autosomal recessive polycystic kidney disease

    • Autosomal dominant polycystic kidney disease

    • Multicystic renal dysplasia

  • Obstructive uropathy

  • Early rupture of membranes

A retrospective analysis of children with Potter syndrome found that 21% had bilateral renal agenesis, 47% had cystic dysplasia, 25% had obstructive uropathy, and 5% had other defects. Posterior urethral valves were the most common cause of bladder outlet obstruction (60%). [44]

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