We report six cases of Noonan syndrome which presented prenatally with sono
graphic abnormalities. These included increased nuchal fluid, short femora,
pleural effusions, hydrops, cardiac and renal abnormalities. A review of a
ll cases of Noonan syndrome seen at two regional genetics centres confirms
the association with these sonographic abnormalities. These cases demonstra
te the diversity of prenatal presentation of Noonan syndrome and highlight
the need to consider this diagnosis, particularly when faced with a fetus w
ith a normal karyotype and varying degrees of oedema or hydrops, with a sho
rt femur length. Copyright (C) 1999 John Wiley & Sons, Ltd.