The femoral-facial syndrome is a very rare syndrome of uncertain inher
itance comprising hypoplastic femora, microretrognathia, and a peculia
r facies. We report an additional observation detected by ultrasound a
t 25 weeks and diagnosed at birth. In addition to the malformations us
ually described in this syndrome, there were heterotopias of the brain
, partial agenesis of the corpus callosum, bilobed lungs, intestinal m
alrotation, and vertebral segmentation defects.