Potter syndrome

Potter syndrome

Potter syndrome, also known as Potter sequence, is a rare congenital disorder characterized by a distinct set of physical abnormalities. It is primarily caused by a lack of amniotic fluid (oligohydramnios) due to renal agenesis or other severe kidney abnormalities. The condition was first described by Dr. Edith Potter in 1946.

Etiology

Potter syndrome is typically caused by bilateral renal agenesis, where both kidneys fail to develop. This leads to a significant reduction in amniotic fluid, which is crucial for fetal development. Other causes can include severe kidney malformations, obstructive uropathy, and chronic leakage of amniotic fluid.

Pathophysiology

The lack of amniotic fluid results in compression of the fetus, leading to a series of characteristic physical deformities. These include:

• Pulmonary hypoplasia: Underdeveloped lungs due to insufficient amniotic fluid.
• Potter facies: A distinct facial appearance with wide-set eyes, a flattened nose, and low-set ears.
• Limb deformities: Clubbed feet and other limb abnormalities.
• Oligohydramnios: Reduced amniotic fluid volume.

Clinical Features

Infants with Potter syndrome often present with:

• Respiratory distress due to pulmonary hypoplasia.
• Distinctive facial features.
• Limb deformities.
• Absence or severe malformation of the kidneys.

Diagnosis

Diagnosis of Potter syndrome can be made prenatally through ultrasound imaging, which may reveal the absence of kidneys, oligohydramnios, and associated physical deformities. Postnatal diagnosis is based on clinical examination and imaging studies such as ultrasonography and MRI.

Prognosis

The prognosis for infants with Potter syndrome is generally poor, primarily due to the severe pulmonary hypoplasia and renal failure. Most affected infants are stillborn or die shortly after birth. In rare cases, if the condition is less severe, supportive treatments may be attempted.

Management

There is no cure for Potter syndrome. Management focuses on supportive care, including respiratory support and addressing any other complications. Prenatal interventions, such as amnioinfusion, have been attempted in some cases to improve outcomes, but these are not widely successful.

Related Pages

• Renal agenesis
• Oligohydramnios
• Pulmonary hypoplasia
• Congenital disorder

External Links

Potter syndrome Resources
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