Achondroplasia - fetal diagnosis

Discussion:

This was a fetus of a mother with achondroplasia, who was known to be FGFR3 heterozygote for achondroplasia following amniocentesis - a mutation seen in about 70% of cases1, with 100% penetrance.  

Note that growth was symmetric and normal at the 20 week scan, with asymmetrically short long bones developing in later pregnancy, predominantly affecting the proximal long ones (femur and humerus) as expected with rhizomelic dwarfism.

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