This is a case of a primigravida with a first degree consanguineous marriage. She came for her ultrasound scan at 22 weeks of gestation.
The ultrasound examination revealed the following findings:
Our diagnosis based on the above ultrasound findings was Short rib-polydactyly syndrome. Patient decided for the pregnancy termination. The X-ray images showed markedly shortened ribs and mesomelic shortening of all long bones. The clinical findings showed facial dysmorphia, postaxial polydactyly, limb shortening and genu recurvatum with absent patella. The facial dysmorphic features and absent patella do not belong among the typical features of the short rib-polydactly syndrome. Unfortunatelly, the chromosomal study was not done but we think that chromosomal anomaly could be also cause this condition.
Images 1,2: 22 weeks, image 1 shows a transverse view of the thorax, note markedly shortened ribs. Image 2 shows fingers with polydactyly.
Images 3,4: Image 3 shows abdominal circumference corresponding with 17 weeks of gestation, note short ribs. Image 4 shows a forearm with shortened ulna and radius.
Images 5,6: Short ribs.
Images 7,8: Image 7 shows a sagittal view of the shortened and thickenned ribs. Image 8 shows a foot with sandal gap and polydactyly.
Images 9: Image 9 shows a foot with shortened tibia and fibula and hand with polydactyly.
Images 10,11: 3D-images showing shortened upper extremities, narrow thorax, prominent forehead.
Images 12,13: Images showing short ribs, shortened and curved humeri and forearms, genu recurvatum.
Images 14-17: Images of the fetus with postaxial polydactyly, genu recurvatum, narrow, short thorax. Face shows abnormal features, prominent forehead, broad, depressed nasal bridge and protruding tongue.