About: A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	We report on a 17-year-old girl with inherited cutis laxa, immunodeficiency and Dandy-Walker syndrome. Immunodeficiency manifested itself by decreased and fluctuating levels of IgG, IgA and IgM and intermittent leukopenia causing increased susceptibility to respiratory tract infections. Dandy-Walker syndrome (agenesis of the cerebellar vermis with a large posterior fossa cyst communicating with an enlarged 4th ventricle) was demonstrated by a CT scan, but with the exception of macrocrania no typical signs or symptoms were observed at the age of 17. A loose hyperextensible skin with pendulous skin folds as a manifestation of cutis laxa was observed from birth. Anomalies of the right pulmonary artery, abnormal branching of the left arteria subclavia (arteria lusoria) from the left aortic arch and bicuspidal aortic valve were also present. To the knowledge of the authors this combination of relatively rare diseases has not been reported yet. We report on a 17-year-old girl with inherited cutis laxa, immunodeficiency and Dandy-Walker syndrome. Immunodeficiency manifested itself by decreased and fluctuating levels of IgG, IgA and IgM and intermittent leukopenia causing increased susceptibility to respiratory tract infections. Dandy-Walker syndrome (agenesis of the cerebellar vermis with a large posterior fossa cyst communicating with an enlarged 4th ventricle) was demonstrated by a CT scan, but with the exception of macrocrania no typical signs or symptoms were observed at the age of 17. A loose hyperextensible skin with pendulous skin folds as a manifestation of cutis laxa was observed from birth. Anomalies of the right pulmonary artery, abnormal branching of the left arteria subclavia (arteria lusoria) from the left aortic arch and bicuspidal aortic valve were also present. To the knowledge of the authors this combination of relatively rare diseases has not been reported yet. (en) Kazuistika díbky s e současným výskytem imunodeficitu, cutis laxa a Dandy-Walkerova syndromu (cs)
Title	A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl (en) Současný výskyt imunodeficitu, cutis laxa a Dandy-Walkerova syndromu (cs)
skos:prefLabel	A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl (en) Současný výskyt imunodeficitu, cutis laxa a Dandy-Walkerova syndromu (cs)
skos:notation	RIV/00216224:14110/03:00024055!RIV09-MZ0-14110___
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(NI7138)
http://linked.open...iv/cisloPeriodika	7
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Lokaj, Jindřich Litzman, Jiří Holčíková, Alena Ventruba, Jiří
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Lékařská fakulta
http://linked.open...dnocenehoVysledku	596839
http://linked.open...ai/riv/idVysledku	RIV/00216224:14110/03:00024055
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Cutis laxa; Dandy-Walker syndrome; hypogammaglobulinemia; leukopenia; subclavian artery - abnormalities (en)
http://linked.open.../riv/klicoveSlovo	Cutis laxa Dandy-Walker syndrome subclavian artery - abnormalities leukopenia hypogammaglobulinemia
http://linked.open...odStatuVydavatele	SE - Švédské království
http://linked.open...ontrolniKodProRIV	[122316A1E6F1]
http://linked.open...i/riv/nazevZdroje	Acta Paediatrica
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...vavai/riv/projekt	Fc receptors on immune cells and clinical manifestation in patients with primary immunodeficiency
http://linked.open...UplatneniVysledku	2003
http://linked.open...v/svazekPeriodika	92
http://linked.open...iv/tvurceVysledku	Litzman, Jiří Lokaj, Jindřich Bučková, Hana Holčíková, Alena Ventruba, Jiří Mikyška, Pavel
http://linked.open...ain/vavai/riv/wos	000184185200021
issn	0803-5253
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	14110

Faceted Search & Find service v1.16.118 as of Jun 21 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 48 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software