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.