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. Author manuscript; available in PMC: 2014 Nov 1.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2013 Oct 4;0(4):306–317. doi: 10.1002/ajmg.c.31376

Figure 2.

Figure 2

Comparison of human craniofacial syndromes caused by mutations in the EDNRA (ACS, GNAI3 and PLCB4) and non-EDNRA (TCOF1) pathways to mouse models. A-L. Human patients are shown in both lateral gross view (A, E, I) and lateral computed tomography (CT) scans (B, F and J), while embryonic day (E) 18.5 mouse embryos are shown in both lateral gross view (C, G, K) and laterally after skeleton staining (D, H and L). Skeletons were stained with alizarin red and alcian blue to visualize bone and cartilage staining, respectively. M. Comparison of skull malformation between patients with mutations in either GNAI3 or PLCB4. The mandible in both patients has taken on a maxilla-like (triangular) shape compared to the normal angular shape of the mandible. ACS, auriculocondylar syndrome; TCS, Treacher-Collins syndrome; Ednra-/-, endothelin receptor type A mutant mice.