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Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Cellular immunodeficiency

An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity.

Total: 1

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PMID (PMCID)
8554361	MIXED_SAMPLE	Infant, Newborn
	Severe microcephaly with normal intellectual development: the Nijmegen breakage syndrome.
	Green AJ, Yates JR, Taylor AM, Biggs P, McGuire GM, McConville CM, Billing CJ, Barnes ND. Arch Dis Child. 1995;73(5):431-4.
	A brother and sister are described with severe microcephaly of prenatal onset, normal intellectual and motor development, chromosomal breakage and cellular immunodeficiency, which is characteristic of the autosomal recessive condition, Nijmegen breakage syndrome.