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.,
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