Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like features

Clin Genet. 1994 Dec;46(6):417-22. doi: 10.1111/j.1399-0004.1994.tb04409.x.

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.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Collagen / ultrastructure
  • Diagnosis, Differential
  • Ehlers-Danlos Syndrome / diagnosis
  • Ehlers-Danlos Syndrome / metabolism
  • Ehlers-Danlos Syndrome / pathology*
  • Elastin / ultrastructure
  • Eye Abnormalities / diagnosis
  • Female
  • Fibroblasts / ultrastructure
  • Humans
  • Hydroxylysine / metabolism
  • Infant
  • Joint Instability / diagnosis
  • Male
  • Pedigree
  • Sclera / abnormalities
  • Scoliosis / diagnosis
  • Skin / chemistry
  • Skin / metabolism
  • Skin / pathology

Substances

  • Hydroxylysine
  • Collagen
  • Elastin