FETAL ACHONDROPLASIA-ULTRASONOGRAPHIC FEATURES (CASE REPORT)

Journal
Македонски Медицински Преглед = Macedonian Medical Review
Date Issued
2021
Author(s)
Metodija Trajchevski
Angela Trajkovska-Popov
Abstract
Introduction. Achondroplasia is the most common
non-lethal skeletal dysplasia and the main cause for
dwarfism in humans.
Case presentation. A 27-year-old pregnant woman
came into our hospital in the third trimester of pregnancy with a medical report of short fetal limbs (<5
percentile). Our US exam revealed rhizomelic shortening of the limbs, with frontal bossing, depressed nasal
bridge and a trident hand. These findings were highlysuggestive for achondroplasia which was confirmed by
DNA testing for FGFR3 mutation after a well-adapting male baby was born.
Conclusion. Achondroplasia displays US features that
raise a suspicion for the disease prenatally.
Subjects

achondroplasia

shortening of the lim...

frontal bossing

trident hand

FGFR3 mutation

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