File:AJMG-188-319-g002 (1).jpg

English: (a–d) Facial phenotype of the proband at age 2 month (a,b) and at age 18 months (c,d). Note large forehead, hypertelorism, downslanting palpebral fissures with “sunset phenomenon” (panel b) and thin nose with hypoplastic alae nasi. There is a striking resemblance to the individuals reported by Boyadjiev et al. (2003, 2006, 2011). Panels (e) and (f) show the skull radiographs of the proband at birth. Note the very incomplete ossification of the frontal, parietal, and occipital bones leaving large sagittal and coronal sutures (lambdoid suture not well visible). Panel (g) shows the proband's father as an adult. His facial features include the large forehead, hypertelorism and thin nose. In his lateral skull radiograph (panel h), the fontanels are close but the frontal sinuses have failed to develop