Sponastrime dysplasia: diagnostic criteria based on five new and six previously published cases

Pediatr Radiol. 1997 May;27(5):409-14. doi: 10.1007/s002470050157.


Sponastrime dysplasia is a dwarfing autosomal recessive bone dysplasia, the diagnosis of which is based on a combination of clinical and radiological features. The radiological features are more specific than the clinical ones. We have developed diagnostic radiological criteria based on information from our five cases and from six previously published ones.

Publication types

  • Case Reports

MeSH terms

  • Bone Diseases, Developmental / diagnostic imaging*
  • Bone Diseases, Developmental / genetics
  • Child
  • Child, Preschool
  • Dwarfism / diagnostic imaging
  • Dwarfism / genetics
  • Facies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Lumbar Vertebrae / diagnostic imaging
  • Radiography