case_images: PMC6570965_01
case_images: Patient at 3 years old. Note dysmorphic facial features (blepharophimosis, ocular hypertelorism, long philtrum and abnormal ear configuration
case_images: 13039_2019_440_Fig1_HTML.jpg
case_images: PMC6570965_01_13039_2019_440_Fig1_HTML.jpg
case_images: Fig1
case_images: 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.