The same finding at the cervical region.

The fetal face.

 
An abnormal 4-chamber view with a large VSD. The left outflow tract looked stenotic (not seen in this images). An echocardiography confirmed an aortic root stenosis and VSD. On a repeat examination 36 weeks a hypoplastic left ventricle was diagnosed. We also found a small pericardial effusion and also signs of subcutaneous edema.

 
Female gender and unilateral lower limb edema.

 
Foot and leg edema.

 
Single umbilical artery.

 

These findings suggested an aneuploidy, specifically 45, X0 syndrome (Turner"s syndrome). We performed a genetic amniocentesis at 24 weeks which confirmed the clinical suspicion :

These are the newborn"s pictures at 37 weeks

 
This is the classic appearance of a term Turner"s syndrome newborn. Note the face, the ears, laterally placed nipples, and the lower limb lymphedema.

Note the redundant soft tissue in the neck and the low set and rotated ears.

Another view which shows the neck"s redundant skin.

Here we can see the right foot lymphedema and the difference in size of both legs and feet.

 

That same day, a neonatal echocardiography confirmed the diagnosis of hypoplastic left ventricle, coarctation of the aorta and VSD. This baby died 4 days later from congestive heart failure.