Attributes | Values |
---|
rdf:type
| |
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
| |
http://linked.open...avai/riv/aktivity
| |
http://linked.open...iv/cisloPeriodika
| |
http://linked.open...vai/riv/dodaniDat
| |
http://linked.open...aciTvurceVysledku
| |
http://linked.open.../riv/druhVysledku
| |
http://linked.open...iv/duvernostUdaju
| |
http://linked.open...titaPredkladatele
| |
http://linked.open...dnocenehoVysledku
| |
http://linked.open...ai/riv/idVysledku
| - RIV/00216224:14110/03:00024055
|
http://linked.open...riv/jazykVysledku
| |
http://linked.open.../riv/klicovaSlova
| - Cutis laxa; Dandy-Walker syndrome; hypogammaglobulinemia; leukopenia; subclavian artery - abnormalities (en)
|
http://linked.open.../riv/klicoveSlovo
| |
http://linked.open...odStatuVydavatele
| |
http://linked.open...ontrolniKodProRIV
| |
http://linked.open...i/riv/nazevZdroje
| |
http://linked.open...in/vavai/riv/obor
| |
http://linked.open...ichTvurcuVysledku
| |
http://linked.open...cetTvurcuVysledku
| |
http://linked.open...vavai/riv/projekt
| |
http://linked.open...UplatneniVysledku
| |
http://linked.open...v/svazekPeriodika
| |
http://linked.open...iv/tvurceVysledku
| - Litzman, Jiří
- Lokaj, Jindřich
- Bučková, Hana
- Holčíková, Alena
- Ventruba, Jiří
- Mikyška, Pavel
|
http://linked.open...ain/vavai/riv/wos
| |
issn
| |
number of pages
| |
http://localhost/t...ganizacniJednotka
| |