Rossijskij Vestnik Perinatologii i Pediatrii (Nov 2017)

Williams syndrome in a child with a multiple organ pathology

  • T. V. Mihajlova,
  • D. I. Sadykova,
  • T. V. Pudovik

DOI
https://doi.org/10.21508/1027-4065-2017-62-5-106-110
Journal volume & issue
Vol. 62, no. 5
pp. 106 – 110

Abstract

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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.

Keywords