case_images: PMC5997782_01
case_images: Ultrasonographic images of the fetus.
case_images: fendo-09-00292-g001.jpg
case_images: PMC5997782_01_fendo-09-00292-g001.jpg
case_images: F1
case_images: First-trimester ultrasonographic screening for chromosomal anomalies revealed a large NT of 6.4-7 mm, with thin septae limited to the back of the fetus; the nasal bone was present, and normal blood flow was observed through the ductus venosus and tricuspid valve (Figure 1).
case_images: The family pedigree [according to Ref. ].
case_images: fendo-09-00292-g002.jpg
case_images: PMC5997782_01_fendo-09-00292-g002.jpg
case_images: F2
case_images: Genetic testing of the parents and the previous offspring revealed that they were both heterozygous (carriers) for the abovementioned mutation, although their first child was not affected (Figure 2).