Figure 1
From: Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
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.