PMC6570965_01
Patient at 3 years old. Note dysmorphic facial features (blepharophimosis, ocular hypertelorism, long philtrum and abnormal ear configuration
13039_2019_440_Fig1_HTML.jpg
PMC6570965_01_13039_2019_440_Fig1_HTML.jpg
Fig1
This 9 year-old girl, child of non-consanguineous healthy parents, was born at term, with pre- and post-natal growth retardation, a surgically resolved atrial septal defect, dysmorphic facial features including blepharophimosis, ocular hypertelorism, long philtrum and abnormal ear configuration (Fig. 1), severe anemia and seizures.