CLINICAL, ULTRASTRUCTURAL AND BIOCHEMICAL-STUDIES IN 2 SIBS WITH EHLERS-DANLOS-SYNDROME TYPE-VI-B-LIKE FEATURES

OGUR G., BAYKAN N., DEPAEPE A., STEINMANN B., QUATACKER J., KUSEYRI F., ...More

CLINICAL GENETICS, vol.46, no.6, pp.417-422, 1994 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 46 Issue: 6
  • Publication Date: 1994
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.417-422
  • Istanbul University Affiliated: No

Abstract

Two Turkish sibs with clinical features of Ehlers-Danlos syndrome type VI-B are presented. The hydroxylysine contents of dermis and gel electrophoresis of type I and type III collagen produced by fibroblasts were normal. Ultrastructural studies of skin collagen and elastic fibers showed discrete abnormalities. Other syndromes with similar clinical, biochemical and ultrastructural features are discussed.