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. 2021 Jan 12;7(1):e553. doi: 10.1212/NXG.0000000000000553

Figure 2. Representative Facial Features and Skin Findings in Patients With CEDNIK.

Figure 2

There was no recognizable gestalt of features among the patients described in this study. Patient 1 (age 18) displays (A) mild hypotelorism and (B) keratoderma of the soles of the feet. Patient 5 (age 6) displays (C) short forehead with bitemporal narrowing, low-set ears, microphthalmia, high-arched palate. Epicanthal folds, strabismus, anteverted nares, a short philtrum with bowed upper lip, micrognathia, a high-arched palate, and (D) generalized ichthyosis, here shown on the back. CEDNIK = cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma.