Case report

This is a case of 22-year-old woman, G2P1. She was referred to our ultrasound unit at 17 weeks of gestation for the anomalies of fetal extremities. Her personal and family history were unremarkable.

Ultrasound examination revealed the following findings:

• Abnormal fetal profile and face
• Remarkable shortening of the long bones
• Bone fractures
• Small thorax

We performed an amniocentesis. Karyotype was 46 XX. The sonographic features were suggestive of lethal type II osteogenesis imperfecta. The diagnosis was confirmed by DNA analysis. The parents were informed and decided for the pregnancy termination at 18 weeks of pregnancy. The postnatal X-ray confirmed our diagnosis.

Images 1,2: Image 1 shows abnormal fetal profile and image 2 is a 3D image of the fetal face.

Image 3: Transverse view of the fetal thorax, note short ribs.

Images 4-7: Upper extremities, note remarkable shortened and bowed long bones.

Images 8,9: Left and right hand.

Images 10,11: Remarkable shortened lower extremities, long bones are shortened and bowed with a fracture of the femur bone.

Images 12,13: Shortened and bowed lower extremities with fractures, female gender.

Image 14: Postnatal X-ray shows shortened, bowed bones with fractures, rib fractures.