Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

Susanne Christiansen; Laura Kirstine Sønderberg Roos; Maria J Miranda

Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

Susanne Christiansen, Laura Kirstine Sønderberg Roos, Maria J Miranda

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.

Bidragets oversatte titel	Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Laeger
Vol/bind	177
Udgave nummer	40
Sider (fra-til)	V05150380
ISSN	0041-5782
Status	Udgivet - 28 sep. 2015

Citationsformater

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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.",

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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

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SP - V05150380

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ER -

Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

Abstract

Fingeraftryk

Citationsformater