Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome

Figure 4

Systemic anomalies of patients with ARS. (a, b) The nonocular manifestations of Patient 1, including midface abnormalities with flattening of the midface, prominent lower lips, and missing and misshapen teeth. (c, d) The systemic features of Patient 2, including flat face, missing and misshapen teeth, and protruding lower lip. (e, f, g) The nonocular manifestations of Patient 3, including hypodontia, flat nasal bridge, telecanthus, and redundant periumbilical skin.

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