Case report

The following images show an example of Roberts syndrome. The images represent a combination of two cases of the Roberts syndrome diagnosed in our department.

Images 1, 2: The images show flat fetal profile with micrognathia and retrognathia.

Images 3, 4: The image 3 shows normal fetal head circumference with normal intracranial architecture and femur shortening. The image 4 shows fetal phocomelia.

Images 5, 6: The images show fetal phocomelia.

Images 7, 8: The image 7 shows transverse scan at the level of the fetal eye with slight hypertelorism. The image 8 shows fetal foot with "sandal gap".

Images 9, 10: The image 9 shows a four-chamber view of the fetal heart with atrioventricular septal defect. The image 10 represents 3D scan o the fetal face, showing micrognathia and retrognathia. Note that no cleft lip was present.

Images 11, 12: The image 11 represents 3D scan o the fetal face, showing micrognathia and retrognathia. The image 12 shows 3D scan of the upper fetal extremity with phocomelia.

Images 13, 14, 15, and 16: Postmortem images of the neonates affected by Roberts syndrome.