TY  - JOUR
A1  - Pankau, R.
A1  - Gosch, A.
A1  - Meinecke, P.
A1  - Sarimski, K.
A1  - Schneppenheim, R.
A1  - Weissenborn, Jürgen
A1  - Wessel, A.
A1  - Partsch, C. J.
T1  - Diagnosis and treatment in Williams-Beuren syndrome (WOS) : Guidelines of the Scientific Advisory Board of the German Williams-Beuren Syndrome Association
N2  - 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
Y1  - 2005
SN  - 0026-9298
ER  -