Bloom syndrome (BS) is a rare DNA-repair disorder. The disease can be recognized at an early age by the most characteristic symptoms: pre- and postnatal growth retardation and a butterflyshaped facial erythema in the face. We discuss the symptoms leading to the diagnosis in seven patients with BS. Patients with BS have a high risk to develop a malignancy. Treatment with growth hormone in Bloom patients could possibly increase the risk on developing a malignancy. To consider growth hormone therapy in Bloom patients, the diagnosis BS should be made in time.

dx.doi.org/10.1007/s12456-013-0177-9, hdl.handle.net/1765/59034
Tijdschrift voor Kindergeneeskunde
Department of Neurology

Schoenaker, M.H.D, Otten, B.J, Finken, M.J, Michiels, E, van Noesel, M.M, Loeffen, J, … Weemaes, C.M.R. (2013). Bloom syndrome: Timely diagnosis before growth hormone therapy is being considered. Tijdschrift voor Kindergeneeskunde, 81(6), 142–148. doi:10.1007/s12456-013-0177-9