Official Journal of the European Society of Gynecology
eISSN 2710-2580
Lethal metatropic dwarfism: a case report
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European Gynecology & Obstetrics
European Society of Gynecology
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Keywords

Dwarfism, metatropic, prenatal diagnosis, short femur

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How to Cite

Galopin, C., Denoo, X., Jamblin, P., Delbecque, K., Bulk, S., Chantraine, F., & Nisolle, M. (2021). Lethal metatropic dwarfism: a case report. European Gynecology & Obstetrics, 3(1). https://doi.org/10.53260/EGO.213016

Abstract

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.

https://doi.org/10.53260/EGO.213016
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Copyright (c) 2021 Catherine Galopin, Xavier Denoo, Paul Jamblin, Katty Delbecque, Saskia Bulk, Fréderic Chantraine, Michelle Nisolle