CLINICAL CHARACTERISTICS: ANKRD11-related KBG syndrome is characterized by macrodontia (particularly of the upper central incisors), characteristic facial features (triangular face; widely spaced eyes; long philtrum; nasal anomalies including prominent nasal bridge, bulbous nose, and/or anteverted nares; bushy, wide, and/or thick eyebrows; synophrys), postnatal short stature, skeletal anomalies (brachydactyly, scoliosis, coccygeal abnormalities, cervical ribs), EEG abnormalities (with or without…
