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@article{554908, author = {Litzman, Jiří and Bučková, Hana and Ventruba, Jiří and Holčíková, Alena and Mikyška, Pavel and Lokaj, Jindřich}, article_number = {7}, keywords = {Cutis laxa; Dandy-Walker syndrome; hypogammaglobulinemia; leukopenia; subclavian artery - abnormalities}, language = {eng}, issn = {0803-5253}, journal = {Acta Paediatrica}, note = {Cutis laxa, Dandy-Walker syndrome, hypogammaglobulinemia, leukopenia, subclavian artery - abnormalities}, title = {A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl}, volume = {92}, year = {2003} }
TY - JOUR ID - 554908 AU - Litzman, Jiří - Bučková, Hana - Ventruba, Jiří - Holčíková, Alena - Mikyška, Pavel - Lokaj, Jindřich PY - 2003 TI - A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl JF - Acta Paediatrica VL - 92 IS - 7 SP - 861-864 EP - 861-864 SN - 08035253 N1 - Cutis laxa, Dandy-Walker syndrome, hypogammaglobulinemia, leukopenia, subclavian artery - abnormalities KW - Cutis laxa KW - Dandy-Walker syndrome KW - hypogammaglobulinemia KW - leukopenia KW - subclavian artery - abnormalities N2 - 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. ER -
LITZMAN, Jiří, Hana BUČKOVÁ, Jiří VENTRUBA, Alena HOLČÍKOVÁ, Pavel MIKYŠKA and Jindřich LOKAJ. A concurrent occurrence of cutis laxa, Dandy-Walker syndrome and immunodeficiency in a girl. \textit{Acta Paediatrica}. 2003, vol.~92, No~7, p.~861-864. ISSN~0803-5253.
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