PMID: 8966094Mar 1, 1996Paper

Microcephaly with chromosomal instability and immunodeficiency--Nijmegen syndrome

Pediatria polska
Krystyna H Chrzanowska

Abstract

The Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, which belongs to the family of genetically determined instability syndromes and to the growing category of ataxia telangiectasia (AT)--related disorders. The main manifestations include pronounced microcephaly with mental retardation in most patients, "bird-like" facies, growth retardation, immunodeficiency, chromosome instability with multiple chromosome 7 and 14 rearrangements, hypersensitivity to ionizing radiation and normal AFP level. In light of high predisposition to malignancy, an accurate diagnosis is very important for the patient.

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