Ultrasound Interactive Case Study: Cloverleaf Skull?

Case presentation by: Ghislaine Campagne, March, 1998
Email: ghislaine@ctv.es

The diagnosis is thanatophoric dysplasia, type II. We thought it was a kleeblattschadel skull, with temporal prominences. Other features were:

• Champagne cork appearance of the thorax, with severe thoracic and pulmonar hypoplasia (< P5) with a normal heart circumference.
• The abdomen appears of a normal size, and the intraabdominal structures seem normal.
• The spine appears normal, we haven't been able to find or rule out platispondilysis.
• We found a micromelic shortening of all extremities, the measurements being approximately half the expected size (<P5). The humerus is curved, tibia and fibula are divergent, but the femur is straight. There are no fractures nor bone hypomineralization.
• The genetic amniocenthesis was normal 46 XY.
• The mother decided to have an abortion at 21 weeks.