Potter Syndrome

Updated: Jun 06, 2024
  • Author: Sushil Gupta, MD; Chief Editor: Craig B Langman, MD  more...
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Overview

Practice Essentials

Potter syndrome refers to the typical physical appearance and associated pulmonary hypoplasia of a neonate as a direct result of oligohydramnios and compression while in utero. See the image below. The renal function and respiratory status of neonates born with Potter syndrome must be assessed. Once the long-term prognosis of survival is determined, resuscitation and management plans should be addressed.

Sonogram obtained before second-trimester amnioinfSonogram obtained before second-trimester amnioinfusion. This fetus has bilaterally absent kidneys consistent with a diagnosis of Potter syndrome. The cystic structures in the renal fossae are most likely the adrenal glands.

Signs and symptoms

Findings at physical examination may include the following:

  • Potter facies (flattened nose, recessed chin, prominent epicanthal folds, and low-set abnormal ears)
  • Pulmonary hypoplasia
  • Features of Eagle-Barrett (prune belly) syndrome (deficient abdominal wall, undescended testes, dilated ureters, and a renal pelvis)
  • Skeletal malformations (hemivertebrae, sacral agenesis, and limb anomalies)
  • Ophthalmologic malformations (cataract, angiomatous malformation in the optic disc area, prolapse of the lens, and expulsive hemorrhage)
  • Cardiovascular malformations (ventricular septal defect, endocardial cushion defect, tetralogy of Fallot, and patent ductus arteriosus)

See Presentation for more detail.

Diagnosis

Laboratory studies

The following tests are recommended in patients with suspected Potter syndrome:

  • Measurement of serum electrolyte levels
  • Measurement of serum creatinine levels
  • Complete blood cell (CBC) count with differential
  • Urinalysis

If sepsis is suspected, obtain cultures of the urine, blood, and cerebrospinal fluid. Chromosomal analysis is obtained if the physical examination

 
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