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

Translated title of the contribution: Bloom syndrome: Timely diagnosis before growth hormone therapy is being considered

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Translated title of the contribution	Bloom syndrome: Timely diagnosis before growth hormone therapy is being considered
Original language	Dutch
Pages (from-to)	142-148
Number of pages	7
Journal	Tijdschrift voor Kindergeneeskunde
Volume	81
Issue number	6
DOIs	https://doi.org/10.1007/s12456-013-0177-9
Publication status	Published - Mar 2013
Externally published	Yes

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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 = "Dutch",

volume = "81",

pages = "142--148",

journal = "Tijdschrift voor Kindergeneeskunde",

issn = "0376-7442",

publisher = "Bohn Stafleu van Loghum",

number = "6",

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TY - JOUR

T1 - Het bloom-syndroom

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 - http://www.scopus.com/inward/record.url?scp=84891761144&partnerID=8YFLogxK

U2 - 10.1007/s12456-013-0177-9

DO - 10.1007/s12456-013-0177-9

M3 - Article

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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