Clinical expression of familial Williams-Beuren syndrome in a Turkish family

J Pediatr Endocrinol Metab. 2014 Jan;27(1-2):153-8. doi: 10.1515/jpem-2013-0167.

Abstract

Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability with a typical neurobehavioral profile, cardiovascular anomalies, and occasional infantile hypercalcemia. Majority of cases occur sporadically, and only a few cases of familial WBS have been reported. Although pre- and post-natal growth retardation is a common clinical feature of the syndrome, growth hormone deficiency is detected only in a few patients. To our knowledge, there has only been one report about familial Williams-Beuren syndrome in the Turkish population. Here, we report on the three molecular cytogenetically confirmed familial Williams-Beuren syndromes detected in a family with familial short stature. The father, daughter, and son analyzed with clinical and laboratory findings, and reasons of the short stature in Williams-Beuren syndrome are discussed through the literature.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Humans
  • Male
  • Turkey
  • Williams Syndrome / diagnosis*
  • Williams Syndrome / pathology