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

Am J Med Genet. 1985 Apr;20(4):639-48. doi: 10.1002/ajmg.1320200410.


We describe nine patients with an apparently new genetic disorder characterized by: microcephaly with normal intelligence; "bird"-like facial appearance; cellular and humoral immune defects; and 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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Consanguinity
  • Facial Expression
  • Female
  • Genes, Recessive*
  • Genetic Counseling
  • Hodgkin Disease / genetics
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Infant
  • Intelligence*
  • Leukemia, Lymphoid / genetics*
  • Lymphoma / genetics*
  • Lymphoma, Non-Hodgkin / genetics
  • Male
  • Microcephaly / genetics*
  • Pedigree
  • Phenotype
  • Prenatal Diagnosis
  • Risk
  • Syndrome