Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance.

In 1967, Simopolous et aland Walbaum, Dehaene, and Duthoit reported independently in several sibs a syndrome consisting of polycystic kidneys, internal hydrocephalus, polydactyly, and other develop- mental abnormalities. Following our observation of this inherited syndrome in three sibs in one family a systematic search of necropsy records in two departments of pathology,* was made for similar cases. This led to the detection of 7 cases occurring in 3 other families with the same syndrome.