FIGURE 1.

(A-C) Images of the face, hands, and feet from participant 3 showing enophthalmos, mouth with incompetent lips, prominent teeth, emerging retrognathia, livedo reticularis, and poor peripheral circulation. (D-F) Images of the face, hands, and feet from participant 4, sibling of participant 3, showing similar features. (G-I) Images of the face, hands, and feet from participant 5 showed marked enophthalmos, retrognathia, fixed distal contractures in the feet with overlapping toes, and pes cavus suggestive of a peripheral neuropathy. Families consented for photography of all individuals shown. The color version of this figure is available in the online edition.