Samenvatting
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.
Vertaalde titel van de bijdrage | Bloom syndrome: Timely diagnosis before growth hormone therapy is being considered |
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Originele taal-2 | Nederlands |
Pagina's (van-tot) | 142-148 |
Aantal pagina's | 7 |
Tijdschrift | Tijdschrift voor Kindergeneeskunde |
Volume | 81 |
Nummer van het tijdschrift | 6 |
DOI's | |
Status | Gepubliceerd - mrt. 2013 |
Extern gepubliceerd | Ja |