Figure legend
Figure 1. Suggested work-up for cases with prenatally diagnosed fetal
short long bones.
CMA, chromosomal microarray analysis
#cases with femur length below the
5th percentile should also be included due to possible
error in measurement and the potential decrease in percentile during the
pregnancy.
*FGFR3 mutations - testing for achondroplasia and
hypochondroplasia:
- c.1138G>A (p.Gly380Arg)
- c.1138G>C (p.Gly380Arg)
- c.1620C>A (p.Asn540Lys)
- c.1620C>G (Asn540Lys)
Table 1: Summary of the aberrant chromosomal microarray analysis
findings.