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

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Parlak M., Nur B., Mıhçı E., Durmaz E., Karauzum S. B., Akcurin S., ...Daha Fazla

Journal of Pediatric Endocrinology and Metabolism, cilt.27, sa.1-2, ss.153-158, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 27 Sayı: 1-2
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1515/jpem-2013-0167
  • Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.153-158
  • Anahtar Kelimeler: cardiac defect, familial Williams-Beuren syndrome, short stature, subclinical hypothyroidism, AUTOSOMAL-DOMINANT INHERITANCE, GROWTH-HORMONE DEFICIENCY, CHILDREN, DIAGNOSIS
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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.