Autosomal recessive nonsyndromal microcephaly with normal intelligence.
Autosomal recessive microcephaly is usually associated with moderate to severe mental retardation. An apparently new autosomal recessive disorder comprising a characteristic facial appearance associated with microcephaly and normal intelligence, immunodeficiency, and increased risk for lymphoreticular malignancies has been described recently. We report on a large Arab kindred with frequent consanguineous marriages and eight cases in five sibships with microcephaly, peculiar facies, and normal intelligence. Of these cases, two died of an acute lymphoreticular malignancy or bronchopneumonia. Immunological and chromosomal studies carried out for the three affected living sibs were normal. The existence of an autosomal recessive nonsyndromal variant of microcephaly with normal intelligence is proposed and discussed.
D000293:Adolescent; D002648:Child; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007360:Intelligence; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree