Prenatal ultrasonography and genetic analysis of fetal cleidocranial dysplasia: A case report

Figure 1 Two-dimensional and three-dimensional ultrasound of fetal cleidocranial dysplasia. A: Three-dimensional (3D) ultrasonography showed enlargement of the anterior fontanelle (thick arrow); B: 3D ultrasound showed temporal suture widening (thin arrow); C: 2D ultrasound showed the absence of nasal bone (short arrowhead); D: 2D ultrasound showed that the clavicle was short and straight without a typical “S” shape (long arrowhead).

Figure 2 Sequencing results show that the fetus carried pathogenic mutations in the RUNX2 gene (c. 674G>A) (black arrow).

Figure 3 Pedigree of the affected family. Circles and squares represent females and males, respectively. Affected individuals are shown in black. Diamond represents current pregnancy. Slash represents death.