G. Boog et al., Contribution of tridimensional sonography and magnetic resonance imaging to prenatal diagnosis of apert syndrome at mid-trimester, FETAL DIAGN, 14(1), 1999, pp. 20-23
A diagnosis of Apert syndrome, suspected at 24 weeks' gestation after conve
ntional sonography showing turribrachycephaly and syndactyly of hands and f
eet, was confirmed at 26 weeks' gestation by tridimensional sonography and
magnetic resonance imaging. This is only the second prenatal diagnosis repo
rted at mid-trimester, excluding cases published from affected mothers or i
n connection with a context of recurrence. Additional findings have been co
llected from tridimensional sonography (mid-facial hypoplasia, downslanting
palpebral fissures) and from magnetic resonance imaging (verticalization o
f the clivus and flattened angle of the cranial base).