A–C: Face at 1 day old (A), 2 months (B) and 9 months (C): Prominent forehead, prominent eyes with right greater than left, blue sclerae with corneal clouding, flat nasal bridge with short nose, small mouth, short neck. Feeding tube present at 2 and 9 months and nasal cannula present at 9 months. D: Left hand at 2 months: overlapping digits. E: Right hand at 2 months: Camptodactyly with absent distal flexion creases, broad tips of digits. F: Right foot at 6 months: Sandal gap between 1st and 2nd toes.