Figure 1. Clinical features in the proband.

(A) Note overall characteristic pattern of limb contractures most significantly affecting distal upper extremities, with camptodactyly, adducted thumbs, and ulnar deviation, and less obvious foot, knee, and elbow contractures. (B) Notable facial features (partially obscured by endotracheal tube) include pursed lips and small mouth with associated jaw contracture, microretrognathia, eyelid and facial myotonia, short palpebral fissures, square face, and frontal bossing. (C) Facial appearance during period of relatively greater relaxation and attempted eye opening following partial resolution of eyelid myotonia.