ABSTRACT
Two families with CFEOM associated with musculoskeletal abnormalities were studied. Pedigree of the first family demonstrated autosomal recessive penetrance of CFEOM. Two members of the first family were affected. One affected member had restrictive exotropia with the globes frozen in abduction, and a normal levator function. The other subject demonstrated unilateral ptosis with contralateral loss of ocular movements. Both patients had extension and flexion contractures of extremities, pes cavus, patellar hypoplasia, and scoliosis. Electroneuromyographic (ENMG) studies revealed normal neural motor and sensorial conduction velocities. Pedigree of the second family demonstrated autosomal dominant penetrance of synpolydactyly with a sporadic CFEOM case. Both eyes of the sibling were fixed in downward position with absent upgaze and aberrant horizontal gaze. The association of CFEOM with musculoskeletal diseases with normal ENMG studies raises the idea that some forms of ocular fibrosis cases might be a part of a more generalized skeletal muscle disorder.
