A term female infant with early onset respiratory distress and pneumothorax died on day 20 with renal failure. Autopsy revealed dysplastic kidneys with occasional cortical cysts. The pancreas showed focal dysplasia with cysts and dilated ducts lying in primitive mesenchyme. A mild chronic inflammatory infiltrate was present in the dysplastic areas of kidneys and pancreas. The abnormalities in the affected organs were similar to those in two siblings described by Ivemark et al. in 1959 and designated "familial dysplasia of kidneys, liver and pancreas". Relationships to subsequently reported cases, including some with major congenital malformations, and the validity of this dysplastic triad as a disease entity are examined.