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2007-01-30-15 Answer to the case of the week 197 © Contarin

Answer to the case of the week #197

July 12 - July 26, 2007

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


Department of Obstetrics and Gynocology-Hospital Dr. Miguel Perez Carreño. Caracas. Venezuela;


Department of Pathologic Anatomy- Hospital Dr. Miguel Perez Carreño. Caracas. Venezuela.


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).


Images 15. 29th week of pregnancy -  transverse plane through fetal pelvis - wide iliac wings.


Images 16, 17. Postnatal radiograms - bicycle handle like clavicles (left); and micromelia with dominant rhizomelia (right).


Images 18, 19. Postnatal radiograms - left upper arm with micromelia (left); and short metacarpals and phalanges of baby"s hand (right).


Images 20, 21. Postnatal radiograms - pelvis with square shape iliac wings.


Images 22. Postnatal appearance of the baby.




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