PMC4209064_01
Representative photographs of the patient at 2 11/12 years of age. (a-b) The main facial features of the girl were: brachycephaly, prominent forehead, hypertelorism with mildly downslanting palpebral fissures, intermittent exotrophy, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. Note the mostly opened mouth with cupid bowed upper lip and full lower lip. (c) The frontal part of her plantar feet was deeply creased. (d) Her back was hairy.
13039_2014_74_Fig1_HTML.jpg
PMC4209064_01_13039_2014_74_Fig1_HTML.jpg
Fig1
At 2 11/12 years of age the patient displayed the following facial features (Figure 1a-b): square, brachycephalic face with a prominent forehead and frontal bossing, slight midface hypoplasia, hypertelorism with mildly downslanting palpebral fissures, synophris, small nose with anteverted nostrils and deep-set nasal root, mild prognathism, deep-set posterior rotated ears, full cheeks and prominent philtrum. The patient's soles of the feet were deeply creased in their frontal part (Figure 1c). Her back was hairy (Figure 1d).