Ultrasonographic features in a case of heterozygous achondroplasia at 25 weeks' gestation

Prenat Diagn. 1993 May;13(5):395-401. doi: 10.1002/pd.1970130512.

Abstract

Prenatal diagnosis of heterozygous achondroplasia at 25 weeks is described. First-level fetal ultrasonography demonstrated short long bones of the lower limbs. Second-level examination showed a large head; shortened femur, fibula, and tibia; a 'trident'-shaped hand; and an abnormal facial profile.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Therapeutic
  • Achondroplasia / diagnostic imaging*
  • Achondroplasia / genetics*
  • Adult
  • Amniocentesis
  • Biometry
  • Female
  • Femur / abnormalities
  • Femur / diagnostic imaging
  • Hand Deformities, Congenital / diagnostic imaging
  • Head / abnormalities
  • Head / diagnostic imaging
  • Humans
  • Pregnancy
  • Spine / abnormalities
  • Spine / diagnostic imaging
  • Ultrasonography, Prenatal*