Fig. 4

Clinical and radiographic images of affected proband (a-f) and his affected maternal half-brother (g-k) from Family 3. (a-c) Facial and ear close up views showing mild dysmorphic features, including prominent nasal bridge, overfolded and underfolded helix, and prominent and large lobulated ears. (d) Eye close up view demonstrating left corneal opacity and exotropia. (e, f) Intraoral and radiographic images demonstrating severe attrition of all teeth and rounded-shaped molars. (g, h) Frontal and lateral views showing mild dysmorphic features, including a triangular-shaped face with mid-face hypoplasia, arched eyebrows, low-hanging columella, low-set posteriorly rotated right ear, and a prominent left one. (i) Note the small irises and left exotropia (j, k) Intraoral and radiographic images demonstrating screwdriver-shaped incisors, rounded-shaped molars, and supernumerary molars