Fig. 3

Clinical images of affected proband (a-f) and carrier mother (g) from Family 2. (a-b) Facial and intraoral view at 6 months of age showing microphthalmia and mild dysmorphic features, including short and narrow palpebral fissures and lower eyelid entropion. Note the screwdriver-shaped lower incisors. (c-d) Lateral view at 21 months of age demonstrating depressed nasal bridge, anteverted nares, and distinct ears. (e) Note the abnormal crease on the tip of the right thumb. (f) Intraoral view at 21 months of age showing screwdriver shaped incisors (g) Intraoral image of mother. Note the notch on the incisal edge of the upper right incisor