Case report

This is a 16-year-old woman (G1P0), referred to our antenatal unit at 24th week for skeletal anomalies. Her medical history was unremarkable. Our ultrasound investigation revealed:

• Intrauterine growth retardation with normal amniotic fluid volume

• Abnormal fetal profile with micrognathia

• Abnormal position of hands with possible syndactyly of the third and fourth fingers of the left hand

• Clubbed feet

• Generalized fetal akinesia with fixed position of several joints

The serological tests were negative (TORCH and Chikungunya infections) an the karyotype was also normal (46, XX). The anomalies were consistent with the distal arthrogryposis multiplex congenita. The parents opted for termination of the pregnancy. Postmortem radiography showed the hyper-flexed multiple contractures of the joints of the upper and lower extremities. The elbows were in fixed flexion. The parents refused autopsy.

Images 1 and 2: Image 1 - 3D sonography at 24th week of pregnancy showing abnormal fetal profile with micrognathia; Image 2 - 2D gray scale scan showing fetal hand with suspected syndactyly of the third and fourth finger.

Images 3 and 4: Image 3 - 2D gray scale scan showing fetal hand with suspected syndactyly of the third and fourth finger; Image 4 - 3D sonography showing the same hand as image 3 with suspected syndactyly of the third and fourth finger.

Images 5 and 6: Image 5 - 2D gray scale image showing abnormally flexed fetal hand; Image 6 - 2D gray scale image showing abnormal position of the left and right fetal hand.

Images 7 and 8: 2D gray scale images showing flexed left knee and clubbed foot.

Images 9 and 10: 2D gray scale images showing clubbed feet.

Images 11 and 12: Postmortem images of the hands kept in flexed position.

Images 13 and 14: Postmortem images of the clubbed feet.

Images 15 and 16: Postmortem radiograms.