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

Abstrakt

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.

Klíčová slova

• Familial microcephaly
• normal intelligence
• immunodeficiency
• lymphoreticular malignancies