Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: a new autosomal recessive disorder.
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.
D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006689:Hodgkin Disease / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D007360:Intelligence; D007945:Leukemia, Lymphoid / Q000235:genetics*; D008223:Lymphoma / Q000235:genetics*; D008228:Lymphoma, Non-Hodgkin / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011296:Prenatal Diagnosis; D012306:Risk; D013577:Syndrome