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Clinical pictures of patients with homozygous missense variants in DPH1. A,D: Patient 1, age 8. B,E: Patient 2, age 3 (frontal) and age 8 (lateral). C,F: Saudi Arabian patient (Patient 5), age 14 months. Note midface hypoplasia, sparse eyebrows, epicanthal folds, upturned nose and downturned mouth corners. A prominent forehead is seen in all patients, with elongated skull shape in patients 1 and 2, and trigoncephaly in patient 5.
