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  • Title: Clinical expression of familial Williams-Beuren syndrome in a Turkish family.
    Author: Parlak M, Nur BG, Mıhçı E, Durmaz E, Karaüzüm SB, Akcurin S, Bircan İ.
    Journal: J Pediatr Endocrinol Metab; 2014 Jan; 27(1-2):153-8. PubMed ID: 24057591.
    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.
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