FETAL ACHONDROPLASIA-ULTRASONOGRAPHIC FEATURES (CASE REPORT)

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.