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Diagnosis and treatment in Williams-Beuren syndrome (WOS) : Guidelines of the Scientific Advisory Board of the German Williams-Beuren Syndrome Association
- Williams-Beuren syndrome is a contiguous gene syndrome caused by a hemizygous microdeletion of DNA in 7q11.23 and its prevalence is estimated at 1 : 7500. The symptoms are variable. In addition to the typical craniofacial dysmorphia, cardiovascular malformations, renal malformations, motor and mental retardation, a characteristic personality profile, and disorders of growth and puberty are common. In contrast, hypercalcaemia and nephrocalcinosis, though frequently reported, are rarely encountered. Healthcare guidelines including diagnostic procedures and follow-up examinations as well as treatments are presented. These guidelines are based on the scientific literature and the personal experience that members of the Scientific Advisory Board of the German Williams-Beuren Syndrome Association have recorded in more than 400 patients
Verfasserangaben: | R. Pankau, A. Gosch, P. Meinecke, K. Sarimski, R. Schneppenheim, Jürgen Weissenborn, A. Wessel, C. J. Partsch |
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ISSN: | 0026-9298 |
Publikationstyp: | Wissenschaftlicher Artikel |
Sprache: | Englisch |
Jahr der Erstveröffentlichung: | 2005 |
Erscheinungsjahr: | 2005 |
Datum der Freischaltung: | 24.03.2017 |
Quelle: | Monatsschrift Kinderheilkunde. - ISSN 0026-9298. - 153 (2005), 3, S. 273 |
Organisationseinheiten: | Humanwissenschaftliche Fakultät / Strukturbereich Kognitionswissenschaften / Department Linguistik |
Peer Review: | Referiert |
Name der Einrichtung zum Zeitpunkt der Publikation: | Humanwissenschaftliche Fakultät / Institut für Linguistik / Allgemeine Sprachwissenschaft |