(A and B) Myopathic facies, ophthalmoplegia, and severe respiratory involvement in patient 5. (C) Mild myopathic facies and feeding difficulties requiring nasogastric tube in patient 3. (D) Cleft palate in patient 1. Arthrogryposis is seen with characteristic extended fingers and adducted thumb in patient 3 (E), patient 1 (F), and patient 6 (J). Early-onset scoliosis is seen in patient 1 (G) and in patient 2 (H and I). (K) Muscle ultrasound in patient 4 showing involvement of the vastus lateralis (VL), intermedius (VI), and medialis (VM) with a dense, mostly granular pattern, with relative sparing of the rectus femoris (RF).