Het bloom-syndroom: Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogen

M. H.D. Schoenaker; B. Otten; M. J.J. Finken; E. Michiels; M. M. Van Noesel; J. Loeffen; A. Warris; C. Noordam; C. M. Weemaes

doi:10.1007/s12456-013-0177-9

Het bloom-syndroom: Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogen

M. H.D. Schoenaker, B. Otten, M. J.J. Finken, E. Michiels, M. M. Van Noesel, J. Loeffen, A. Warris, C. Noordam, C. M. Weemaes

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

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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
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	https://doi.org/10.1007/s12456-013-0177-9
Status	Gepubliceerd - mrt. 2013
Extern gepubliceerd	Ja

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title = "Het bloom-syndroom: Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogen",

abstract = "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.",

author = "Schoenaker, \{M. H.D.\} and B. Otten and Finken, \{M. J.J.\} and E. Michiels and \{Van Noesel\}, \{M. M.\} and J. Loeffen and A. Warris and C. Noordam and Weemaes, \{C. M.\}",

year = "2013",

month = mar,

doi = "10.1007/s12456-013-0177-9",

language = "Nederlands",

volume = "81",

pages = "142--148",

journal = "Tijdschrift voor Kindergeneeskunde",

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T2 - Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogen

AU - Schoenaker, M. H.D.

AU - Otten, B.

AU - Finken, M. J.J.

AU - Michiels, E.

AU - Van Noesel, M. M.

AU - Loeffen, J.

AU - Warris, A.

AU - Noordam, C.

AU - Weemaes, C. M.

PY - 2013/3

Y1 - 2013/3

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/84891761144

U2 - 10.1007/s12456-013-0177-9

DO - 10.1007/s12456-013-0177-9

M3 - Artikel

AN - SCOPUS:84891761144

SN - 0376-7442

VL - 81

SP - 142

EP - 148

JO - Tijdschrift voor Kindergeneeskunde

JF - Tijdschrift voor Kindergeneeskunde

IS - 6

ER -

Het bloom-syndroom: Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogen

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