CLINICAL CLASSIFICATION OF RADIAL RAY DEFECTS AND RESEARCH INTO ETIOPATHOGENESIS


Avci S. , Toksoy G. , Bagirova G. , Altunoglu U. , Karaman B. , Basaran S. , ...More

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, vol.81, no.4, pp.127-138, 2018 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 81 Issue: 4
  • Publication Date: 2018
  • Doi Number: 10.26650/iuitfd.427250
  • Title of Journal : JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Page Numbers: pp.127-138

Abstract

Objective: Radial ray defects (RRDs) are the most common congenital abnormality of the upper extremities, with a prevalence of 1:30,000. 70% of RRDs are syndromic or accompanied by additional malformations, whereas 30% are in isolated form. Definitive diagnosis is critical for follow-up and provides an opportunity for prenatal diagnosis. The aim of this study was to provide a guide for the differential diagnosis of patients with RRD via contributing to their molecular diagnosis by constructing a next-generation sequencing (NGS) gene-panel test.