Figure 1.

Clinical features of patients 1 (A–C), 2 (D–F), and 3 (G–I). Note frontal upsweep, widely spaced and sparse eyebrows, edematous eyelids, narrow palpebral fissures, epicanthus, mild micrognathia, and limb abnormalities including spatulate fingertips, camptodactyly of the 5th left finger in patient 1 (C), clinodactyly of the 3rd and 4th toes in patient 2 (F), and a deep web space between the 2nd and 3rd fingers in patient 3 (I).