Figure 1 | Scientific Reports

Figure 1

From: Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

Figure 1

Photographs of patients 1 (A,B), 2 (C,D) and 3 (E,F).

Common features include hypoplasia of the midface and of the nasal bones giving a flat nose, triangular nares, arched eyebrows with synophrys and hypoplastic-dysplastic external ears. Panel G and H show the flat nose with triangular nares in patients 3 and 2, respectively, with a single central incisor in patient 3; and panel I shows the lesion of congenital aplasia cutis on the vertex of patient 3.

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