Potter syndrome

Abstract

Potter syndrome is characterized by a typical face, anomalies of the trunk and the lower extremities and bilateral pulmonary hypoplasia. The Potter face includes prominent epicanthal folds, a beak-like nose with flattened tip, a small chin, floppy, low-set malformed ears and a wrinkled skin which gives the baby a prematurely senile appearance. Potter syndrome is due to fetal compression and can therefore occur whenever the amniotic fluid is scanty or absent. It is associated not only with bilateral renal agenesis, as first described, but also with, for instance, bilateral renal cystic dysplasia, total urethral obstruction and chronic leakage of amniotic fluid. When Potter syndrome is diagnosed, the question of inheritance arises. Familial cases of bilateral renal agenesis have been reported. Cystic renal dysplasia generally is not hereditary. Genetic and histological investigation can be necessary to exclude the autosomal recessive as well as the autosomal dominant type of polycystic kidney disease. Finally, differential diagnosis is made with arthrogryposis multiplex congenita and the syndrome of pulmonary hypoplasia, multiple ankylosis and camptodactyly described by Pena and Shokeir. A recessive mode of transmission has been suggested in these syndromes.