Spondyloepiphyseal dysplasia tarda in Turner syndrome

Acta Paediatr Scand. 1989 Nov;78(6):971-4. doi: 10.1111/j.1651-2227.1989.tb11189.x.


A girl with short stature is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This is the first report of the occurrence of X-linked spondyloepiphyseal dysplasia tarda in a child with Turner syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Female
  • Genetic Linkage
  • Humans
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Pelvis / diagnostic imaging
  • Radiography
  • Spine / diagnostic imaging
  • Turner Syndrome / diagnosis
  • Turner Syndrome / genetics*
  • X Chromosome