Case of the Week # 197

Francesco Contarin, MD; Jony Suárez, MD; Johana Rangel, MD; Jennifer Visconti, MD; Bernard Rodriguez, MD

Answer

This is a 22-year-old woman (G4, P2) with unremarkable familiar history, referred to our hospital at 29 weeks of gestation due to a fetal ascites. There were no signs of maternal-fetal blood incompatibility. The ultrasound investigation revealed rhizomelia, postaxial polydactyly, small thorax, short ribs, ascites, increased abdominal biometric parameters, polyhydramnios. We supposed two diagnoses: Short rib-polydactyly syndrome versus Jeune syndrome (asphyxiating thoracic dystrophy).

The patient was counseled and decided to terminate the pregnancy. At 30 week of pregnancy, a cesarean section was performed. A female baby was born with the Apgar scores 4 and died after 4 minutes. Post natal X-ray was performed and we find square shape iliac wings and bicycle handle-like clavicles. The karyotype was normal (46 XX) and final diagnosis was: short rib-polydactyly syndrome.

Images 1, 2. 29th week of pregnancy - shortened femur (left); and ulna (right).

Images 3, 4. 29th week of pregnancy - shortened tibia (left); and polydactyly of the hand (right).

Images 5, 6. 29th week of pregnancy - narrow thorax.

Images 7, 8. 29th week of pregnancy: abnormal ductus venosus waveform with A wave below the line (left); and fetal ascites (right).

Images 9, 10. 29th week of pregnancy - fetal ascites (left); and transverse plane through narrow thorax (right).

Images 11, 12. 29th week of pregnancy - coronal plane through normal fetal lips and nose (left); and coronal plane through the fetal skull - normal (right).

Images 13, 14. 29th week of pregnancy - sagittal cranial plane - normal (left); and axial plane through the posterior fossa of the skull - normal cerebellum with transcerebellar diameter concordant with gestational age (right).