Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl

Pediatr Radiol. 1995;25(4):303-5. doi: 10.1007/BF02011108.

Abstract

A case of spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL) in an Italian girl is reported. This condition is mainly observed in the Afrikaans population of South Africa with an ancestral founder believed to be localized in West Germany. This case might support a link with the European origin of SEMDJL.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Epiphyses
  • Female
  • Humans
  • Joint Instability / complications*
  • Kyphosis / complications*
  • Kyphosis / diagnostic imaging
  • Radiography
  • Scoliosis / complications*
  • Scoliosis / diagnostic imaging
  • Spinal Diseases / complications
  • Spinal Diseases / congenital*
  • Spinal Diseases / diagnostic imaging