Figure 4
From: Expanding the phenome and variome of skeletal dysplasia
Clinical images ofPGAP3-related Toriello–Carey syndrome phenotype patients, all with the same founder mutation. (a–l) Facial dysmorphia, bulbous nose, epicanthal folds, upslanted palpebral fissures, megalocornea, microcephaly, U-shaped cleft palate, a small tongue, overlapping toes, abnormal dentition, hypoplastic corpus callosum, hypoplastic cerebellum with absent vermis, and a communication between the third ventricle and the posterior fossa.
