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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

Figure 1

Clinical presentation of Subject 1 and Subject 2. A. Subject 1 at age 2, 7, and 13 (a-c), demonstrating the facial appearance, with asymmetry, right facial nerve palsy, dysplastic and prominent ears. By age 13, the right ear was surgically corrected. B. Subject 2 demonstrating a) asymmetry of the jaw, b) left ear with thick helix, c) right ear (post surgery): small, dysplastic, cup-shaped, anteverted, and hypoplastic lobule, d) hands with slightly tapering fingers and e) normal body proportions except short neck.

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