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Facial appearance of Patient 1 at the age of 13 years (A), Patient 2 at the age of 4 years (B), Patient 3 at the age of 6.5 years (C), and Patient 4 at the age of 5.5 years (D). All patients have distinct, similar dysmorphic facial features, including prominent supraorbital ridges, deep set eyes, dark infraorbital circles and midface hypoplasia.
