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 2013-05-29-10 Thanatophoric dysplasia, type II © Vaskova


Thanatophoric dysplasia, type II

Andrea Vaskova, MD.

Presov, Slovak republic

Case report

31-year-old woman (G4P3) with non-contributive history, from non-consanguineous couple, presented to our facility at 17 weeks of pregnancy. She did not undergo first trimester ultrasonographic  NT screening, but her biochemical triple test was normal.

Our ultrasound examination revealed micromelia and short narrow thorax of the fetus. The patient had refused amniocentesis. Her following ultrasonographic scans were performed between 22 and 31 weeks of pregnancy. They revealed macrocrania with abnormal cloverleaf shaped skull, frontal bossing, low nasal bridge, low-set ears, narrow bell-shaped thorax with relative cardiomegaly, prominent abdomen, platyspondyly, trident hands, hypoplastic iliac bones, and polyhydramnios. Our presumed diagnosis was thanatophoric dysplasia type II

The patient opted for the continuation of the pregnancy. The newborn was delivered via cesarean section at 35 weeks due to massive polyhydramnios and threat of uterine rupture because of previous cesarean section.

The findings and diagnosis were confirmed postnatally. The newborn died four hours after delivery.

Images 1, 2: 17 weeks of pregnancy: the images show short femur and tibia of the fetus (Image 1) and short narrow fetal thorax (Image 2). 


Images 3, 4: 22 weeks of pregnancy: the image 3 shows transverse scan of the fetal head with enlarged biometry (BPD consistent with 25 weeks) - macrocrania. The image 4 shows coronal scan of the lumbar spine with platyspondyly.


Images 5, 6: 24 weeks of pregnancy: The image 5 shows transverse scan of the fetal abdomen with normal abdominal circumference (consistent with 24 weeks). The image 6 shows transverse scan of the fetal thorax at the level of the four-chamber view of the heart with relative cardiomegaly due to thoracic hypoplasia.


Images 7, 8: 24 weeks of pregnancy: The image 5 shows sagittal scan of the fetal thorax and abdomen - short narrow thorax with prominent abdomen can be seen. The image 8 shows trident-hand configuration of fetal hand.


Images 9, 10: 28 weeks of pregnancy: coronal (image 9) and oblique transverse (image 10) scans of fetal head showing its cloverleaf shape.


Image 11: 31 weeks of pregnancy: the image shows fetal profile with frontal bossing and depressed nasal bridge.

Images 12, 13, 14: 31 weeks of pregnancy: 3D images showing the fetal head with low-set ears (Image 12) and trident hands of the fetus (Images 13, 14).


Images 15, 16: Postnatal X-ray images showing macrocrania, narrow short thorax, short femurs and humeri and platyspondylia.


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