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.

Postnatal growth retardation

Slow or limited growth after birth.


Total: 1

                       


(per page)
PMID (PMCID)
17224058
(1781429)
 FEMALE Infant, Newborn
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure.
Gruhn B, Seidel J, Zintl F, Varon R, Tonnies H, Neitzel H, Bechtold A, Hoehn H, Schindler D.
Orphanet J Rare Dis. 2007;2:5.
We describe a patient with pre- and postnatal growth retardation and dysmorphic facial features in whom the diagnoses of Seckel-, Dubowitz-, and Nijmegen breakage syndrome were variably considered.