Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn. / Christiansen, Susanne; Roos, Laura Kirstine Sønderberg; Miranda, Maria J.

In: Ugeskrift for Laeger, Vol. 177, No. 40, 28.09.2015, p. V05150380.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Christiansen, S, Roos, LKS & Miranda, MJ 2015, 'Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn', Ugeskrift for Laeger, vol. 177, no. 40, pp. V05150380.

APA

Christiansen, S., Roos, L. K. S., & Miranda, M. J. (2015). Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn. Ugeskrift for Laeger, 177(40), V05150380.

Vancouver

Christiansen S, Roos LKS, Miranda MJ. Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn. Ugeskrift for Laeger. 2015 Sep 28;177(40):V05150380.

Author

Christiansen, Susanne ; Roos, Laura Kirstine Sønderberg ; Miranda, Maria J. / Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn. In: Ugeskrift for Laeger. 2015 ; Vol. 177, No. 40. pp. V05150380.

Bibtex

@article{4e6c9203d21945c083f76eb63dc95166,
title = "Pontocerebellar hypoplasi er en sj{\ae}lden {\aa}rsag til slapt sp{\ae}dbarn",
abstract = "The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many and often rare. In this case story a floppy girl was diagnosed with the rare, autosomal recessive disease pontocerebellar hypoplasia type I. The tests for the most common causes of floppy infant syndrome showed nothing abnormal, but an array comparative genomic hybridization test gave information of loss of heterozygosity. This helped to narrow the list of plausible diagnoses and eventually led to the diagnosis of pontocerebellar hypoplasia type I.",
author = "Susanne Christiansen and Roos, {Laura Kirstine S{\o}nderberg} and Miranda, {Maria J}",
year = "2015",
month = sep,
day = "28",
language = "Dansk",
volume = "177",
pages = "V05150380",
journal = "Ugeskrift for Laeger",
issn = "0041-5782",
publisher = "Almindelige Danske Laegeforening",
number = "40",

}

RIS

TY - JOUR

T1 - Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

AU - Christiansen, Susanne

AU - Roos, Laura Kirstine Sønderberg

AU - Miranda, Maria J

PY - 2015/9/28

Y1 - 2015/9/28

N2 - The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many and often rare. In this case story a floppy girl was diagnosed with the rare, autosomal recessive disease pontocerebellar hypoplasia type I. The tests for the most common causes of floppy infant syndrome showed nothing abnormal, but an array comparative genomic hybridization test gave information of loss of heterozygosity. This helped to narrow the list of plausible diagnoses and eventually led to the diagnosis of pontocerebellar hypoplasia type I.

AB - The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many and often rare. In this case story a floppy girl was diagnosed with the rare, autosomal recessive disease pontocerebellar hypoplasia type I. The tests for the most common causes of floppy infant syndrome showed nothing abnormal, but an array comparative genomic hybridization test gave information of loss of heterozygosity. This helped to narrow the list of plausible diagnoses and eventually led to the diagnosis of pontocerebellar hypoplasia type I.

M3 - Tidsskriftartikel

C2 - 26418712

VL - 177

SP - V05150380

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

IS - 40

ER -

ID: 162638067