A possible genetic disorder characterized
by oligohydramnios secondary to renal diseases such as bilateral renal agenesis.
Other possible renal defects include obstructive uropathy, autosomal recessive polycystic
kidney disease, medullary dysplastic kidney, and renal hypoplasia. Clinical features
include Potter facies (i.e., flattened nose, recessed chin), pulmonary hypoplasia,
skeletal anomalies, and congenital heart defects.
Oligohydramnios Sequence; Potter Sequence. Potter's disease;
Renal agenesis occurs in 1:3000 live births and is responsible
for 20% of Potter cases. Males have an increased incidence.
Unclear. Different reports suggests an
autosomal recessive, autosomal dominant or X-linked recessive. Male:female
ratio of 2.5:1.
The possible mechanism of renal agenesis or
hypoplasia may be failure of the ureteric bud formation, failure of the bud
to reach the metanephric blastema, or failure of the bud and the metanephric
blastema to influence each other. The ensuing decreased or absent
intrauterine urine production results in oligoor anhydramnios. This
results in compression of the fetus and the typical anomalies found. Other
causes of oligohydramnios (obstructive uropathy, polycystic kidneys, chronic
leakage of amniotic fluid) produce a similar spectrum of anomalies.
Based on ultrasonographic evidence of renal agenesis in
addition to the typical clinical picture. Prenatal diagnosis of renal
agenesis or hypoplasia is possible after 18 weeks of gestation.
Potter facies: mild hypertelorism, prominent
inner canthus, flattened nose, mild micrognathia, large low-set ears. Lungs: severe
pulmonary hypoplasia similar to that of congenital diaphragmatic hernia. Skeletal:
malformation of spine, bowing of legs, club feet, large hands.
Cardiovascular: Ventricular septal defects, tetralogy of fallot, patent ductus
arteriosus, endocardial cushion defect.
Prognosis is very poor.
Death usually shortly after birth as a consequence of pulmonary hypoplasia.
Unlikely to present for surgery in
view of poor prognosis. Assess pulmonary status. Evaluate renal function:
absent in case of renal agenesis or hypoplasia, variable in other causes of
Severe pulmonary hypoplasia requiring
special techniques of mechanical ventilation. Endotracheal intubation may be
difficult because of micrognathia. Renal agenesis may affect management.
The association of cardiovascular malformations will influence the anesthetic
According to renal function.
Jones K: Oligohydramnios sequence, in Jones KL (ed): Smith's Recognizable Patterns of Human
Malformation. 5th ed. WB Saunders, Philadelphia, 1997, p 632.
Zerres K, Völpel M, Weiss H: Cystic kidneys: Genetics, pathologic
anatomy, clinical picture, and prenatal diagnosis. Hum Genet