Figure 2.

Front and side photographs of patients diagnosed with GALNT2-CDG. GALNT2-CDG patients shared dysmorphic facial features including elongated face, high forehead, almond-shaped eyes, protruding maxilla, short philtrum, low-set, posteriorly rotated ears and frequently full lips with a tented or curved upper lip. (A) Patient A additionally had down-slanting palpebral fissures, macrodontia, wide-spaced teeth, and broad chin. (B) Patient B shared down-slanting palpebral fissures with his brother (Patient A) and additionally had sparse medial and curved eyebrows, dense eyelashes, and hypertelorism. (C) Patient C additionally had sparse lateral eyebrows, hypertelorism, midface hypoplasia, depressed nasal bridge, anteverted nares, and downturned corners of the mouth. (D) Patient D additionally had arched eyebrows, dense eyelashes laterally, and high nasal bridge. (E) Patient E additionally had bushy eyebrows, dense eyelashes, and high nasal bridge. He also had pointed canines in upper jaw (not shown). (F) Patient F additionally had a broad nose, macrostomia, macrodontia, wide-spaced teeth, and a broad chin. (G) Patient G additionally had sparse lateral eyebrows, broad nose, hypoplastic nasal alae, macrostomia, macrodontia, wide-spaced teeth, and ears with fleshy lobules.