Hypobetalipoproteinaemia--a variant of the Bassen-Kornzweig syndrome.

Abstract

A patient with hypobetalipoproteinemia and clinical features closely resembling the Bassen-Kornzweig syndrome (abetalipoproteinemia) is described. A link between hypobetalipoproteinemia and abetalipoproteinemia is suggested. The Bassen-Kornzweig syndrome may have a wide spectrum of serum betalipoprotein ranging from absent to normal. There are probably several different genetic entities with similar end results.