Figure 1.

Clinical manifestations of the 2 patients with Schaaf-Yang syndrome. Patient 1: (A) Frontal bossing with a ridge over the metopic suture, hypoplastic supraorbital ridges and a prominent nasal root; (B) Large and abnormally shaped ears without auricles; (C) Short neck, short limbs, long and narrow thorax; (D) Adducted thumb and tapering fingers with the second and fifth fingers overlapping the third and fourth. Patient 2: (E) High forehead, full cheeks, a broad nasal root, a long philtrum and the micrognathia, adducted thumb and tapering digits with the second and fifth fingers overlapping the third and fourth; (F) A large mouth, thickened gums and a high arched palate; (G) Small hands with abnormal palmar creases; (H) Small club feet.