Figure 1. . Photographs of affected individuals showing the characteristic facial profile comprising brachycephaly, widely spaced eyes, synophrys/arched eyebrows, midface retrusion, protruding tongue, eversion of the vermilion of the lower lip, and prognathism of chin.

Figure 1.

Photographs of affected individuals showing the characteristic facial profile comprising brachycephaly, widely spaced eyes, synophrys/arched eyebrows, midface retrusion, protruding tongue, eversion of the vermilion of the lower lip, and prognathism of chin. Five people (AB), (CD), (EF), (GH), and (IJ) with EHMT1 pathogenic variants are shown

Reproduced from Kleefstra et al [2009] with permission from BMJ Publishing Group Ltd.

From: Kleefstra Syndrome

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