Fig. 1

Photos of proband #1 and proband #3. Proband #1 (left side of the panel), showing some unusual facial features, such as a retracted forehead, long eyelid fissures, a wide back of the nose, a tented upper lip, a small mandible, and a retracted chin. Proband #2 (right side of the panel), exhibiting macrocephaly, protruding frontal and parietal tubers, flattened facial profile, upward oblique eyelid slanting, low and wide bridge of the nose, short nose spine, wide philtrum, receding chin, back-folded auricles, gothic palate, and small hands