Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study

GÜRSOY S., HAZAN F., ZİHNİ C., ACAR S., YILMAZER M. M., MEŞE T., ...More

JOURNAL OF PEDIATRIC RESEARCH, vol.8, no.3, pp.297-302, 2021 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 8 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.4274/jpr.galenos.2021.10179
  • Journal Name: JOURNAL OF PEDIATRIC RESEARCH
  • Journal Indexes: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Page Numbers: pp.297-302
  • Keywords: Williams-Beuren syndrome, 7q11.23 deletion, supravalvular aortic stenosis, pulmonary stenosis, intellectual disability, YOUNG-CHILDREN, SUDDEN-DEATH, ABNORMALITIES
  • Dokuz Eylül University Affiliated: Yes

Abstract

Aim: Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region. In this study, we aimed to evaluate the dysmorphic and clinical manifestations of patients with Williams-Beuren syndrome.