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. Author manuscript; available in PMC: 2015 Jul 17.
Published in final edited form as: Cell. 2014 Jul 3;158(2):263–276. doi: 10.1016/j.cell.2014.06.017

Figure 2. Physical characteristics of the CHD8 phenotype.

Figure 2

A) Facial phenotype associated with CHD8. Patients 11654.p1 (top left), 14016.p1 (top middle), and Nij023486 (top right) present with macrocephaly, hypertelorism, down slanted palpebral fissures, broad nose, pointed chin, and broad forehead with prominent supraorbital ridge. Patient 12991.p1 (bottom left) has a high forehead, hypertelorism, large ears, fleshy earlobes, and a history of macrocephaly (at 12 years of age). Patient Troina2659 (bottom middle) did not have hypertelorism but did present with macrocephaly, down slanted palpebral fissures, prominent supraorbital ridge, and pointed chin. Additional physical features included posterior plagiocephaly. Patient Troina2037 (bottom right) presented with macrocephaly, hypertelorism, down slanted palpebral fissures, prominent supraorbital ridges, large ears with fleshy upturned lobes, and full fleshy lips. Additional physical features included widened cranial vault observed via CT scan.

B) Longitudinal head circumference in CHD8 patients. Analysis of standardized head circumference values for patients 14016.p1 (in red) and APP_109580-100 (in blue) reveal marked early orbital frontal head growth in the first two months post birth followed by consistent large head growth remaining at or above 97th percentile throughout early childhood.