Fibrochondrogenesis: clinical and radiological features

Clin Dysmorphol. 1997 Apr;6(2):157-63.

Abstract

We report an Omani child with fibrochondrogenesis. This neonatally lethal bone dysplasia is characterized by a distinctive facial appearance and specific radiological changes. Only seven cases have been reported previously. The clinical and radiological features together with the differential diagnosis is discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / pathology
  • Bone and Bones / abnormalities
  • Consanguinity
  • Face / abnormalities
  • Female
  • Humans
  • Infant, Newborn
  • Osteochondrodysplasias / diagnostic imaging*
  • Osteochondrodysplasias / pathology*
  • Radiography
  • Skull / abnormalities