Cairo University, Fetal Medicine Unit, Egypt.

Case report

26-year-old G1 was scanned at our unit at 20 weeks of gestation. It was a consanguineous couple, the patient and her husband were first cousins. The amniocentesis results showed normal karyotype. The ultrasound examination revealed the following findings:

• Macrocephaly, ventriculomegaly
• Cloverleaf skull
• Frontal bossing, low nasal bridge, flat facies
• Rhizomelic shortening of the long bones, less then 3rd percentile
• Narrow thorax, short ribs
• Protuberant abdomen

We performed MRI examination which confirmed our ultrasound findings. The fetal head showed cloverleaf skull and large anterior fontanel. Our diagnosis based on this findings was thanatophoric dyplasia, type II.
The patient agreed on pregnancy termination at 24 weeks of gestation.
The postnatal findings, CT and X-ray images were in agreement with our diagnosis. Parents did not agree with an autopsy.

Images 1,2: Profile of the fetus, note the frontal bossing and low nasal bridge.