India.

Case report

The following images show a case of unilateral hemimelia of the left upper extremity. The patient was a 27-year-old G1P0 with non-contributive family or personal history. She came for her ultrasound scan at the 33 weeks of gestation. These are the findings on the ultrasound examination:

Unilateral hemimelia with absent thumb

 Left sided diaphragmatic hernia, heart was pushed to the right and stomach was in the left hemithorax

 Enlarged amount of the amniotic fluid

Patient opted for the pregnancy termination based on the ultrasound findings. Karyotype and other genetic testing was not performed.

Images 1,2: Image 1 shows enlarged amount of the amniotic fluid. Image 2 shows a defect of the upper extremity, hemimelia.

Images 3,4: Left-sided diaphragmatic hernia, heart is pushed towards right and stomach is herniated in the left hemithorax. 

Images 5-8: 3D images showing the left upper extremity with it"s defect, absence of the distal part.

Images 9, 10: Images of the fetus show the hemimelia of the left upper extremity and absence of the thumb.

Discussion

This case could be caused by some chromosomal abnormality or gene mutation. There are many chromosomal conditions associated with congenital diaphragmatic hernia and additional major malformation (Isochromosome 12p or tetrasomy 12p, Monosomy 15q26, Monosomy 8p23.1, Monosomy 1q41-1q42s). Fryns syndrome and Cornelia de Lange Syndrome should be included among the differential diagnosis.