Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn
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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
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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