Case report

A 27-year-old woman (G1P0), with non-contributive family history and negative anamnesis of exposure to teratogens, was referred to our antenatal unit at 25 weeks of pregnancy because of detection of fetal anomalies. Our sonographic examination discovered following anomalies:

1. Flat, narrow, bell-shaped chest, with short, horizontal ribs which edges didn"t reach more than halfway around the thorax (images 1, 2);
2. Small thoraco-abdominal ratio <0.8 (0,55) and hypoplastic lungs (image 2) with absence of fetal respiratory movements;
3. Rhizomelia and brachydactyly (image 3);
4. Hydronephrosis (images 5, 6).

After termination of the pregnancy an X-ray found horizontal ribs and small square-shaped iliac wings (images 9). Placenta marginata and velamentous insertion of the umbilical cord were also present (image 10).

Our final diagnosis was Jeune syndrome.

Images 1, 2: The images show narrow, bell-shaped fetal thorax with short horizontal ribs.

Images 3, 4: Fetal biometry found rhizomelia and brachydactyly.

Images 5, 6: The images show fetal hydronephrosis.

Images 7, 8: Pathological images of the fetus after interruption of the pregnancy. Note narrow thorax.

Images 9, 10: Image 9 shows X-ray image of the fetus with small thoracic cage, short ribs, and hypoplastic iliac wings. The image 10 shows velamentous inserion of the umbilical cord and marginate placenta.