case_images: PMC9682143_01
case_images: Front (A), profile (B), and full (C) views of patient 1 at 9 years demonstrate overgrowth, macrocephaly, upslanting palpebral fissures, almond shaped eyes, low-set, posteriorly rotated ears, dental crowding, and bitemporal narrowing.
case_images: fgene-13-1044660-g001.jpg
case_images: PMC9682143_01_fgene-13-1044660-g001.jpg
case_images: F1
case_images: She was 8 years old at her first genetics evaluation and at that time her dysmorphic features included macrocephaly, upslanting palpebral fissures, almond shaped eyes, bitemporal narrowing, flat feet bilaterally low-set, posteriorly rotated ears, a straight border on the inside of her lower legs, and deep, hockey stick hand creases bilaterally (Figures 1A-C).
case_images: PMC9682143_02
case_images: Patients 1 and 2 at ages 9 and 8 years, respectively demonstrate similar facial features (A). Profile (B) and full (C) views of patient 2 at age 8 demonstrating almond-shaped eyes, small, low-set, posteriorly rotated ears, retrognathia, dental crowding, and bi-temporal narrowing.
case_images: fgene-13-1044660-g002.jpg
case_images: PMC9682143_02_fgene-13-1044660-g002.jpg
case_images: F2
case_images: Her dysmorphic features included epicanthal folds, hypertelorism, retrognathia, small and low-set, posteriorly rotated ears, and a thick upper lip (Figures 2A-C).