VOLUME 3 - NUMBER 1 - 2021

Lethal metatropic dwarfism: a case report

  • Catherine Galopin, Xavier Denoo, Paul Jamblin, Katty Delbecque, Saskia Bulk, Fréderic Chantraine, Michelle Nisolle
  • Case reports, 37-39
  • Full text PDF
  • With the improved resolution of ultrasound machines, fetal limb studies can be conducted early in pregnancy. The finding of a “short femur” (<3rd centile) on ultrasound prompts obstetricians to initiate antenatal investigations to allow better counseling about the prognosis of the newborn. The following workup is indicated: advanced ultrasound to identify various characteristics of the fetus, amniocentesis for karyotyping and genetic analysis for bone diseases, and serial imaging of the skeleton at birth.

  • KEY WORDS: Dwarfism, metatropic, short femur, prenatal diagnosis.