Polycystic kidney disease and hepatic system anomalies are major features of Potter disease. Pulmonary hypoplasia with neonatal respiratory distress, however, is often the most immediate cause of death in most infants. Antenatal oligohydramnios and low birth weight are commonly present. As many as 33% of fetuses die in utero, often the result of bilateral renal agenesis. Infants that survive can have chronic lung disease and renal dysfunction. Congenital heart malformations are common, including septal defects, tetralogy of Fallot and patent ductus arteriosis. Vertebrae may have a ‘butterfly’ shape but other skeletal findings include hemivertebrae and sacral agenesis. The neck has been described as short and the skull is brachycephalic.
The facial appearance, known as Potter facies, is said to be characteristic and may be helpful in distinguishing this type of polycystic kidney disease. In addition to the ocular findings, the nares are often anteverted, and the external ears are large and often posteriorly rotated.