Opsismodysplasia: a case report

Australas Radiol. 1997 Feb;41(1):35-7. doi: 10.1111/j.1440-1673.1997.tb00465.x.


A 6-month-old boy with opsismodysplasia is reported. The purpose of this paper is to draw attention to severe ureteric reflux and incidence of pseudo-obstruction, findings not previously reported in opsismodysplasia. They are most likely the result of an intrinsic neuromuscular defect which also affects the skeletal muscles. Another new feature, not reported in opsismodysplasia, was dilatation of ventricles probably secondary to brain atrophy.

Publication types

  • Case Reports

MeSH terms

  • Atrophy
  • Cerebral Ventricles / pathology
  • Diagnosis, Differential
  • Genes, Recessive
  • Humans
  • Infant
  • Intestinal Pseudo-Obstruction / complications
  • Male
  • Osteochondrodysplasias* / complications
  • Osteochondrodysplasias* / diagnostic imaging
  • Osteochondrodysplasias* / epidemiology
  • Osteochondrodysplasias* / genetics
  • Radiography
  • Vesico-Ureteral Reflux / complications