Lethal metatropic dwarfism: a case report


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.


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Citation: Galopin C.,Denoo X.,Jamblin P.,Delbecque K.,Bulk S.,Nisolle M., Lethal metatropic dwarfism: a case report, EGO European Gynecology and Obstetrics (2021); 2021/01:037⁠–039 doi: 10.53260/EGO.213016

Published: January 1, 2021

ISSUE 2021/01