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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I
2007-12-21-03 Thanatophoric dysplasia, type I © Volkov
Thanatophoric dysplasia, type I


Andrey Volkov, MD, PhD.

Department of Obstetric and Gynecology No1 Rostov Medical University, Rostov on Don, Russia.



Case report


The following images show a case of the thanatophoric dysplasia, type I detected at 20 weeks of pregnancy of a 32-year-old woman (G9P3) with noncontributive history. She wasn"t exposed to any teratogenic substances. The parents opted for the termination of the pregnancy and the diagnosis was confirmed.

Images 1, 2: 20 weeks of pregnancy; Image 1 shows short femurs of the fetus, curved into a "telephone receiver" shape. The image 2 shows the left upper extremity with short curved humerus (1), short bones of the forearm (2, 3) and the hand (4).


Images 3, 4: 20 weeks of pregnancy; Image 3 shows a lower extremity of the fetus with short humerus, short curved tibia and fibula and curved foot. Image 4 shows the fetal skull with depressed nasal bridge.


Images 5, 6: 20 weeks of pregnancy; Images 5 shows sagittal scan of the fetal trunk with narrow thorax. The image 6 shows a four-chamber view of the heart with ventricular septal defect.




Images 7, 8: Pathological specimens showing the appearance of the baby. 

Image 9: Pathological specimens showing the appearance of the baby. 

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