Supplemental Digital Content Figure 2 Photographs of affected
- Slides: 6
Supplemental Digital Content Figure 2: Photographs of affected males with FG syndrome continued.
Family 6 (K 9073) Patient III-3 at age 25 years (left), Patient II-4 at 9 days of age (right) – Photo on the right is courtesy of Dr. Mira Irons, Children’s Hospital of Boston II-4: Birth weight was 2. 4 kg. Head circumference was 33. 8 cm on day of life 3. He had 3 apneic spells in the first 2 days of life. Jaundice was noted on the second day of life with bilirubin of 20. 6 mg/dl (1. 3 mg direct), rising to 25 mg/dl. On day 3, he was treated with an exchange transfusion. He smiled at 5 months of age. He startled with a loud noise but did not always turn toward it. He could hold his head up for about 30 seconds when on his abdomen. He could not turn or sit. He could grasp an object but not transfer it from hand to hand. His head size was normal but height and weight were falling behind. His weight was 4. 62 kg, length was 54. 5 cm, head circumference was 43 cm (20 th percentile) and anterior fontanelle was 6 cm. Other clinical features included a large head, prominent fontanelle, sutures and frontal area, hypertelorism, nystagmus on lateral gaze, upslanting palpebral fissures, high arched palate, sandal gap between the first and second toes, grade III systolic ejection murmur, small chest with increased AP diameter, umbilical hernia, wide spaced nipples, clinodactyly of the 5 th fingers, single transverse palmar creases, toes that were long and all of the same length, slightly hyperconvex nails, very little subcutaneous tissue.
Family 7 (K 8610) Patient III-1 at birth, 6 years, 15 years (after ears were pinned back) and 17 years.
Family 8 (K 8675) Patient III-1 at age 6 years and 14 years (The left and middle photos are reprinted with permission from Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM. Clinical and behavioral characteristics in FG syndrome. Am J Med Genet 1999; 85: 470 -475. Copyright 1999, Wiley Blackwell). Patient II-5 at age 10 years and 18 years (The left and middle photos are reprinted with permission from Graham JM Jr, Superneau D, Rogers RC, Corning K, Schwartz CE, Dykens EM. Clinical and behavioral characteristics in FG syndrome. Am J Med Genet 1999; 85: 470 -475. Copyright 1999, Wiley Blackwell).
Family 9 (K 9343) Patient III-4 at age 3 years, 5 years, 13 years, 15 years and 26 years. (The four photos on the left are reprinted with permission from Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, et al. Behavior of 10 patients with FG syndrome [Opitz-Kaveggia syndrome] and the p. R 961 W mutation in the MED 12 gene. Am J Med Genet 2008; 146 A: 3011 -3017. Copyright 2008, Wiley Blackwell).
Family 10 (K 9345) Patient III-5 at ages 5 years, 22 years and 25 years. (The photo at the far right and the hands and feet are reprinted with permission from Graham JM Jr, Visootsak J, Dykens E, Huddleston L, Clark RD, Jones KL, et al. Behavior of 10 patients with FG syndrome [Opitz-Kaveggia syndrome] and the p. R 961 W mutation in the MED 12 gene. Am J Med Genet 2008; 146 A: 3011 -3017. Copyright 2008, Wiley Blackwell).
