Williams syndrome in a child with a multiple organ pathology

The article describes the clinical case of Williams syndrome with the combined pathology of many systems and organs: mental retardation, congenital heart disease (supravalvular aortic stenosis), arterial hypertension, hypercalcemia, hypercalciuria complicated by nephrocalcinosis, gastrointestinal tract injury, facial and eye anomalies, hernia of anterior abdominal wall, kyphoscoliosis. Microsatellite analysis of the loci of the critical region of chromosome 7 revealed a deletion of the investigated loci (D7S1870, D7S613, D7S2476, D7SEln), which led to the diagnosis of Williams syndrome