India.

Case report

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:

• Dysmorphic facial features
  
• Postaxial polydactyly of all extremities
• Short ribs
• Bilateral genu recurvatum, absent patella
• Mesomelic shortening of all extremities
• Sandal gap
• Mildly increased amount of the amniotic fluid
  

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 5,6: Short ribs.