Spondylometaphyseal dysplasia with characteristic facial appearance

Clin Dysmorphol. 1996 Oct;5(4):329-34.


Despite expanding knowledge and technological advances there are patients whose diagnosis remains unknown, either due to failure to recognize previously reported cases, or because the patient represents an undescribed condition. The woman described in this paper has distinctive clinical signs and it is hoped this will lead to the rediscovery or recognition of similar cases.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Facies*
  • Female
  • Humans
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / pathology*
  • Pregnancy
  • Radiography