Fig. 1. Clinical characteristics of patients with Cornelia de Lange syndrome: (A) distinctive facial features (synophrys, thick eyebrows, short nose, long and smooth philtrum, thin upper vermilion, and downturned corners of mouth) and hypertrichosis in case 1, (B) congenital diaphragmatic hernia in case 2, (C) small feet in case 6, and (D) short fifth finger in case 1.
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