Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

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Abstract
The boy is the second child of non-consanguineous parents. His older sister is healthy. From the sixth month of pregnancy microcephaly and growth retardation were noted. Amniocentesis was performed followed by a cytogenetic study which showed a normal male karyotype. He was born in 1997 at 39 weeks of gestation. Birth weight was 1915 g, length 42 cm, and head circumference 28.5 cm (all below the 3rd centile). The neonatal period was complicated by mild hypoglycaemia. During the first year of life he suffered from feeding difficulties and vomiting for which no specific cause was found. Developmental milestones were markedly delayed in language skills because of a severe hearing deficit. Motor skills were reached within the normal range. Head circumference remained below the 3rd centile.