Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder

Abstract

We describe nine patients with an apparently new genetic disorder characterized by: 1 (microcephaly with normal intelligence; 2) “bird”‐like facial appearance; 3( cellular and humoral immune defects; and 4) increased risk for lymphoreticular malignancies. The postmortem findings of five patients are described. Chromosome instability appears not to be a component of the disorder. The occurrence in three pairs of sibs and isonomy in another family suggests autosomal recessive inheritance.