Prenatal diagnosis of Jeune syndrome

Am J Med Genet. 1985 Jul;21(3):433-8. doi: 10.1002/ajmg.1320210304.


We describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X-ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal diagnosis of the condition.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Asphyxia Neonatorum / complications*
  • Female
  • Genes, Recessive*
  • Humans
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / diagnosis*
  • Pregnancy
  • Prenatal Diagnosis*
  • Thanatophoric Dysplasia / diagnosis*
  • Thanatophoric Dysplasia / genetics
  • Thorax / abnormalities*
  • Ultrasonography*