Kyphomelic dysplasia: clinical and radiologic long-term follow-up of one case and review of the literature

Radiology. 1999 Sep;212(3):847-52. doi: 10.1148/radiology.212.3.r99au04847.

Abstract

The authors describe the 17-year follow-up of the (to their knowledge) only adult and only female patient affected with kyphomelic dysplasia so far described in the literature, with assessment of the phenotypic, orthopedic, and radiologic progression of this syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Achondroplasia / diagnostic imaging
  • Achondroplasia / genetics
  • Adolescent
  • Adult
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Bone and Bones / diagnostic imaging
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics*
  • Ectromelia / diagnostic imaging
  • Ectromelia / genetics*
  • Female
  • Follow-Up Studies
  • Humans
  • Radiography