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Articles » Skeletal » Thanatophoric dysplasia » Thanatophoric dysplasia, Type I
2008-10-30-14 Thanatophoric dysplasia, type I © Asali
Thanatophoric dysplasia, type I 
Al-Hammadi Hospital, Riyadh, Saudi Arabia.
Case report

A 38-year-old woman (G2P1) presented to our antenatal unit at 23 and 25 weeks of pregnancy for a sonographic examination. Her husband had some relative who suffered from dwarfism. Their marriage was non-consanguineous. She conceived after an IVF procedure and except of progesterone she didn’t take any medications.
During our examination we discovered a fetus with severe micromelia (less than 3rd percentile) and bowed limbs. The head of the fetus was large (BPD was equal to 30 weeks) with frontal bossing and depressed nasal bridge, the abdomen was of normal size, but the thorax was markedly narrow. Polyhydramnios was present.
The findings led us to the diagnosis of thanathophoric dysplasia type I. The fetus was delivered at 34th week by the cesarean section and the diagnosis was confirmed.

Images 1, 2: 25 weeks; the image 1 shows a transverse scan of the enlarged fetal head corresponded to 30 weeks; the image 2 shows the fetal gender (male) and short legs of the fetus.


Images 3, 4, 5, 6: 30 weeks; the images show short long bones of the fetus.



Images 7, 8: 25 weeks; the image 7 shows sagittal scan of the fetal thorax and abdomen. The thorax is markedly narrow (arrows). The image 8 shows short fingers of the fetus.


Images 9, 10, 11: 25 weeks; the images sow 3D appearance of the fetus.


Images 12, 13: Postnatal appearance of the neonate.


Images 14, 15, 16, and 17: 30 weeks; the images show X-ray imags of the neonate (note narrow thorax, flattened vertebrae and short bowed long bones).



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